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Is it common to have multiple recessive traits in humans?

Is it common to have multiple recessive traits in humans?


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I just started thinking about my phenotype and realized I got multiple recessive traits. I have attached ear lobes, my blood type is O-, I got green eyes (I think eye color in polygenic but still somewhat recessive), a few years back I was in the control group of a study that was looking for a link between an allelic variant and the development of diabetes mellitus in patiences with another disease I forgot which, I was the only homozygous among all control patients! so you get the point. I am just wondering if anyone has any notion of how often humans present multiple recessive traits, maybe in terms of allelic frequency or something like that, or where can I find information about it. And maybe if there is something health related that may be worth knowing. I mean apart from a minor allergy I'm a really healthy person, but I may have predisposition to something.


It depends on how long a population in your dominant heritage was genetically isolated, how common certain recessive traits are.

However, you might reconsider about the "green eyes". Iridologists claim that there are only blue eyes, and light brown eyes. All other colours are indicative of bioaccumulation of various substances (evidenced by a return to blue or light brown when the body is supported in excreting these substances), and health issues in certain tissues.

While there is argument about how scientific a technique iridology is, all medicine begins as observation of patterns, and development of models based on those patterns. Models in medicine are constantly undergoing upgrading and replacement, as old models no longer explain new and well-observed patterns.


Characteristics that are encoded in DNA are called genetic traits. Different types of human traits are inherited in different ways. Some human traits have simple inheritance patterns like the traits that Gregor Mendel studied in pea plants. Other human traits have more complex inheritance patterns.

Mendelian inheritance refers to the inheritance of traits controlled by a single gene with two alleles, one of which may be dominant to the other. Not many human traits are controlled by a single gene with two alleles, but they are a good starting point for understanding human heredity. How Mendelian traits are inherited depends on whether the traits are controlled by genes on autosomes or the X chromosome.

Autosomal Traits

Autosomal traits are controlled by genes on one of the 22 human autosomes. Consider earlobe attachment. A single autosomal gene with two alleles determines whether you have attached earlobes or free-hanging earlobes. The allele for free-hanging earlobes (F) is dominant to the allele for attached earlobes (f). Other single-gene autosomal traits include widow&rsquos peak and hitchhiker&rsquos thumb. The dominant and recessive forms of these traits are shown in Figure below. Which form of these traits do you have? What are your possible genotypes for the traits?

The chart in Figure below is called a pedigree. It shows how the earlobe trait was passed from generation to generation within a family. Pedigrees are useful tools for studying inheritance patterns.

You can watch a video explaining how pedigrees are used and what they reveal at this link:http://www.youtube.com/watch?v=HbIHjsn5cHo.

Having free-hanging earlobes is an autosomal dominant trait. This figure shows the trait and how it was inherited in a family over three generations. Shading indicates people who have the recessive form of the trait. Look at (or feel) your own earlobes. Which form of the trait do you have? Can you tell which genotype you have?

Other single-gene autosomal traits include widow's peak and hitchhiker's thumb. The dominant and recessive forms of these traits are shown in Figure below. Which form of these traits do you have? What are your possible genotypes for the traits?

Widow's peak and hitchhiker's thumb are dominant traits controlled by a single autosomal gene.

Sex-Linked Traits

Traits controlled by genes on the sex chromosomes are called sex-linked traits, or X-linked traits in the case of the X chromosome. Single-gene X-linked traits have a different pattern of inheritance than single-gene autosomal traits. Do you know why? It&rsquos because males have just one X chromosome. In addition, they always inherit their X chromosome from their mother, and they pass it on to all their daughters but none of their sons. This is illustrated in Figurebelow.

Inheritance of Sex Chromosomes. Mothers pass only X chromosomes to their children. Fathers always pass their X chromosome to their daughters and their Y chromosome to their sons. Can you explain why fathers always determine the sex of the offspring?

Because males have just one X chromosome, they have only one allele for any X-linked trait. Therefore, a recessive X-linked allele is always expressed in males. Because females have two X chromosomes, they have two alleles for any X-linked trait. Therefore, they must inherit two copies of the recessive allele to express the recessive trait. This explains why X-linked recessive traits are less common in females than males. An example of a recessive X-linked trait is red-green color blindness. People with this trait cannot distinguish between the colors red and green. More than one recessive gene on the X chromosome codes for this trait, which is fairly common in males but relatively rare in females (Figure below). At the following link, you can watch an animation about another X-linked recessive trait called hemophilia A:http://www.dnalc.org/view/16315-Animation-13-Mendelian-laws-apply-to-human-beings-.html.

Pedigree for Color Blindness. Color blindness is an X-linked recessive trait. Mothers pass the recessive allele for the trait to their sons, who pass it to their daughters.


Having 5 Fingers

Well, are you surprised yet? You heard that right, having five fingers is actually a recessive human trait compared to six fingers! So how did it happen that everyone except a very small percentage of the population has five-fingered hands?

Well, we're not really sure, but at some point long ago, having five fingers per hand became more prominent.

The trait may be recessive, but because there are so few dominant six-finger genes floating around, we're all still slapping high fives.

Photo : Internet Archive Book Images / Flickr / No known copyright restrictions

Dominant and Recessive Alleles

Our discussion of homozygous and heterozygous organisms brings us to why the F1 heterozygous offspring were identical to one of the parents, rather than expressing both alleles. In all seven pea-plant characteristics, one of the two contrasting alleles was dominant, and the other was recessive. Mendel called the dominant allele the expressed unit factor the recessive allele was referred to as the latent unit factor. We now know that these so-called unit factors are actually genes on homologous chromosome pairs. For a gene that is expressed in a dominant and recessive pattern, homozygous dominant and heterozygous organisms will look identical (that is, they will have different genotypes but the same phenotype). The recessive allele will only be observed in homozygous recessive individuals ([link]).

Human Inheritance in Dominant and Recessive Patterns
Dominant Traits Recessive Traits
Achondroplasia Albinism
Brachydactyly Cystic fibrosis
Huntington’s disease Duchenne muscular dystrophy
Marfan syndrome Galactosemia
Neurofibromatosis Phenylketonuria
Widow’s peak Sickle-cell anemia
Wooly hair Tay-Sachs disease

Several conventions exist for referring to genes and alleles. For the purposes of this chapter, we will abbreviate genes using the first letter of the gene’s corresponding dominant trait. For example, violet is the dominant trait for a pea plant’s flower color, so the flower-color gene would be abbreviated as V (note that it is customary to italicize gene designations). Furthermore, we will use uppercase and lowercase letters to represent dominant and recessive alleles, respectively. Therefore, we would refer to the genotype of a homozygous dominant pea plant with violet flowers as VV, a homozygous recessive pea plant with white flowers as vv, and a heterozygous pea plant with violet flowers as Vv.


Principles of Inheritance and Variation Important Extra Questions Very Short Answer Type

Question 1.
Name one trait that does not blend.
Answer:
Sex does not blend.

Question 2.
Give one example of a genetic trait for each of the following in humans:
1. Lethality
Answer:
Lethality: Homozygous sickle cell anaemia.

2. Multiple allelism.
Answer:
Example of Multiple allelism: ABO blood groups.

Question 3.
What for symbols AA and Aa stand?
Answer:

Question 4.
Name the plant that shows incomplete dominance in respect to the colour of its flower.
Answer:
Mirabilis jalapa.

Question 5.
Write the genotypes of a man with blood group A.
Answer:
l A l A , l A l 0

Question 6.
What is Mendel’s monohybrid ratio for phenotypes?
Answer:
3:1.

Question 7.
Write down Mendel’s dihybrid ratio for phenotypes.
Answer:
9: 3: 3: 1.

Question 8.
Who were the discoverers of Mendelism?
Answer:
Hugo de Vries, Karl Correns, Erich von Tschermak were the rediscoverers of Mendelism.

Question 9.
What are the real determinants of what an organism will become?
Answer:
The complex interaction between genes and their environment really determine what an organism will become.

Question 10.
Name the disorder in humans with the following karyotype:
(a) 22 pairs of autosomes + XO
(b) 22 pairs of autosomes + 21 st chromosome + XY (CBSE Outside Delhi 2019)
Answer:

Karyotype Name of Disorder
(a) 22 pairs of autosomes + XO Turner’s syndrome
(b) 22 pairs of autosomes + 21 st chromosome + XY Down’s syndrome (MongoLism inmate)

Question 11.
What wilt is the genetic makeup of an organism which suffers from sickle cell anaemia?
Answer:
Homozygous (Hb S Hb S ).

Question 12.
Name the type of cross that would help to find the genotype of a pea plant bearing violet flowers. (CBSE Delhi 2017)
Answer:
Test cross.

Question 13.
What term is used for the two chromatids resulting from the interchange of segments during crossing over?
Answer:
Recombinants (cross overs).

Question 14.
Write one example of each of organisms exhibiting
(i) male heterogamety
Answer:
Male heterogamety: Drosophila and humans

(ii) female heterogamety. (CBS£ Delhi 2019 C)
Answer:
Female heterogamety: Birds and some reptiles

Question 15.
A geneticist is interested in study variations and pattern in living being preferred to choose an organism with the short life cycle. Provide a reason. (CBSE Delhi 2015)
Answer:
An organism with a shorter life cycle is helpful in rapid study and analysis of hereditary pattern in many generations, e.g. Drosophila, Neurospora.

Question 16.
Give an example of a human disorder that is caused due to a single gene mutation. (CBSE Delhi 2016)
Answer:
Phenylketonuria.

Question 17.
Write the sex of human having XXY chromosomes with 22 pairs of autosomes. Name the disorder this human suffers from. (CBSE Delhi 2016)
Answer:
The human is male (as Y chromosome is present). He is suffering from Klinefelter’s syndrome

Principles of Inheritance and Variation Important Extra Questions Short Answer Type

Question 1.
State the Mendelian principle which can be derived from a dihybrid cross and not from monohybrid cross.
Or
State Mendel’s Law of Independent Assortment. CBSE Sample Paper 2018-19)
Answer:
From the dihybrid cross, the law of independent assortment can be derived which states that, when two pairs of traits are combined in a hybrid, segregation of one pair of characters is independent of the other pair of characters.

Question 2.
In a cross between two tall pea plants, some of the offsprings produced pure dwarf. Show with the help of Punnett square how this is possible. (CBSE (Delhi) 2013)
Answer:

Question 3.
What is a dihybrid cross?
Answer:
Dihybrid cross. A cross in which two characters are taken into consideration during experimentation, such a cross is called dihybrid cross. A cross between a pea plant with yellow smooth seeds and a pea plant with green, wrinkled seeds is a dihybrid cross.

From the dihybrid cross, it can be derived that each gene is assorted independently of the other during its passage from one generation to the other or Law of independent assortment.

Question 4.
In order to obtain the E, generation, Mendel pollinated a pure breeding tall plant with a pure breeding dwarf plant. But forgetting the F2 generation, he simply self-pollinated the tall F1 plants. Why?
Answer:

  1. He made crosses to study the pattern of inheritance of a few characters over generations.
  2. Initially, he made pure lines.
  3. To create a heterozygote or hybrid, he had to cross two different plants (pure lines).
  4. To study the inheritance pattern it is enough if the hybrids are self – pollinated, thus the segregation of factors can be studied.

Question 5.
A cross between a red flower-bearing plant and a white flower-bearing plant of Antirrhinum majus produced all plants having pink flowers. Work out across, to explain how is this possible? (CBSE Outside Delhi 2013)
Answer:

Question 6.
Differentiate gene and allele.
Answer:
Difference between gene and allele:
Allele (allelomorphs) refers to the alternate form of a gene pair present on the same loci in the homologous chromosome, whereas gene is the smallest unit of an organism capable of transmitting genetic information and expressing the same.

Question 7.
In Snapdragon, a cross between true-breeding red-flowered (RR) plants and true-breeding white-flowered (RR) plants showed a progeny of plants with all pink flowers.
(i) The appearance of pink flowers is not known as blending. Why?
Answer:
It is not a case of blending. In this case, R gene was not completely dominant over r gene and this made genotype Rr to distinguish as pink.

(ii) What is this phenomenon known as? (CBSE 2014)
Answer:
Incomplete dominance.

Question 8.
With the help of one example, explain the phenomena of co-dominance and multiple allelism in the human population. (CBSE 2014)
Answer:
In the case of co-dominance, two alleles for a trait are equally expressed.

Example: ABO blood groups are controlled by the gene I. The gene I have three alleles l A , l B and l O . These alleles determine the type of sugar on the RBC surface. Alleles lA and lB are co-dominant and express the AB blood group.

Since there are three different alleles and express themselves on the basis of dominance recessiveness and co-dominance, it is a case of multiple allelism.

Question 9.
The child has a blood group of O. If the father has blood group A and mother has blood group B, work out the genotypes of the parents and the possible genotypes of the other offsprings. (CBSE Outside Delhi, 2015, 2019)
Answer:

  1. Genotypes. Man (l A l O ) Mother l B l O and child l O l O .
  2. The blood group of the future offspring. A type, B type, 0 types and AB type. It is based on the following cross:


Inheritance of blood groups A, B, O, AB

Question 10.
Give examples of sex-linked inheritance in Drosophila. During his studies on genes in Drosophila that were sex-linked T.H. Morgan found F2 population phenotypic ratios deviated from expected 9: 3: 3: 1. Explain the conclusion he arrived at. (CBSE 2010)
Answer:
Examples of sex-linked inheritance in Drosophila (Morgan’s conclusion).

  1. Genes for white eye colour is located in the X-chromosome and Y-chromosome is empty carrying no normal allele for white eye colour.
  2. The white-eyed female possesses a gene for white eye colour (W) on both of its X-chromosomes.
  3. The white-eyed males receive X-chromosome with (W) gene from mother and (Y) from father with no gene.
  4. The daughter receives one X-chromosome with (W) gene from mother and one X-chromosome with dominant (W+).

Question 11.
Briefly explain XX-XO (a type of sex determination).
Answer:
In the case of roundworms, true bugs, grasshoppers and cockroaches the females have two sex chromosomes XX, whereas the males have only one X-chromosome. The male has no second chromosome thus designated as XO. The sex ratio of 1: 1 is produced as shown in the figure below.


XX-XO determination of sex in the cockroach.

Question 12.
Explain the mechanism of ‘sex determination’ in birds. How does it differ from that of human beings? (CBSE Delhi 2018)
Answer:
Sex determination is of ZW-ZZ type in birds.
In this type, the males are homogametic and have ZZ sex chromosomes, and females are heterogametic with ZW pair of sex chromosomes.


In human beings, the chromosomal mechanism of sex determination is of XX- XY type. The human male is heterogametic and has XY sex chromosomes, whereas the human female is homogametic with XX sex chromosomes.

Question 13.
Write a note on ZO-ZZ type of sex determination.
Answer:
In case of ZO-ZZ type of sex determination the female produces two types of eggs. The one-half of eggs is with Z-chromosome and the other half without Z-chromosome. The male has homomorphic sex chromosomes and is homogametic. It forms only one kind of sperms each with Z-chromosome. On fertilisation by a sperm with Z-chromosome, the Z-containing egg gives rise to male offspring ZZ and Z- lacking egg produces female offspring ZO. Such type of sex determination is found in the case of butterflies and moths.

Question 14.
Give an example of an autosomal recessive trait in humans. Explain its pattern of inheritance with the help of a cross. (CBSE Delhi 2016)
Answer:
Autosomal recessive trait. Sickle-cell anaemia is caused by autosomal recessive trait. The disease is controlled by a single pair of alleles Hb A and Hb S . Only the homozygous individuals for HbsHbs show the disease. The heterozygous individuals are carriers (Hb A Hb s )

Question 15.
How would you find the genotype of a tall pea plant bearing white flowers? Explain with the help of a cross. Name the types of the cross you would use. (CBSE Delhi 201i 5)
Answer:
In order to find the genotype of a given plant, one has to breed it with plenty of oic recessive individual. It is called test CRC is. Tall and white plant TTww or Ttww / is crossed with dwarf white plant ttww TTww x ttww


(All tall white plants indicate that the genotype is TTww)


This ratio indicates that the genotype is Ttww

Depending on the resuLt we can determine the genotype of the flower.

Question 16.
How is polygenic inheritance different from pleiotropy? Give one example of each.
Answer:

polygenic inheritance pleiotropy
It is a type of inheritance in which. a single dominant gene contributes a part of the trait. Thus dominant alleles have a cumulative effect. It is a condition in which a single gene influence more than one trait.
Example:
1. Cob length in maize
2. Skin colour in human
Example:
1. In Drosophila, white eye mutant causes depigmentation in many parts of the body.
2. Sickle cell anaemia

Question 17.
Why is it not possible to study the pattern of inheritance of traits in human beings, the same way as it is done in pea plant? Name the alternate method employed for such an analysis of human traits.
Answer:

  1. Control cross cannot be performed in human as in other organisms.
  2. The generation time is long. Pedigree analysis is the alternative method to study the inheritance of human traits in several generations.

Question 18.
A man with blood group A married a woman with a B group. They have a son with AB blood group and a daughter with blood group 0. Work out the cross and show the possibility of such inheritance. (CBSE Delhi and Outside Delhi 2008)
Answer:


Blood groups of progeny A, B, AB and O.

Question 19.
A haemophilic father can never pass the gene for haemophilia to his son. Explain. (CBSE Delhi 2016)
Answer:
Haemophilia is a sex-linked recessive disorder where X chromosome carries the defective haemophilic gene and Y chromosome is healthy. And son inherits only the Y chromosome from his father which is not carrying the gene for haemophilia. Therefore, the haemophilic father can never pass haemophilia to his son.

Principles of Inheritance and Variation Important Extra Questions Long Answer Type

Question 1.
Study the given pedigree chart and answer the questions that follow:
1. Is the trait recessive or dominant?
Answer:
Dominant.

2. Is the trait sex-linked or autosomal?
Answer:
Autosomal.

3. Give the genotypes of the parents shown in generation I and their third child is shown in generation II and the first grandchild shown in generation III. (CBSE Sample Paper 2018-19)

Answer:
The genotype of parents in generation I – Female: aa and Male: Aa
The genotype of a third child in generation II-Aa Genotype of the first grandchild in generation III – Aa

Question 2.
Haemophilia is a sex-linked recessive disorder of humans. The pedigree chart given below shows the inheritance of Haemophilia in one family.

Study the pattern of inheritance and answer the questions given.
1.Give all the possible genotypes of the members 4, 5 and 6 in the pedigree chart.
2. A blood test shows that the individual 14 is a carrier of haemophilia. The member numbered 15 has recently married the member numbered 14. What is the probability that their first child will be a haemophilic male?
(CBSE 2009, CBSE Sample Paper 2018-19)


Answer:

  1. Genotypes of member 4 – XX or XX h Genotypes of member 5 – X h Y Genotypes of member 6 – XY
  2. The probability of first child to be a haemophilic male is 50%.

Question 3.
Mention the advantages of selecting a pea plant for the experiment by Mendel.
Answer:
Advantages of selecting pea plant as experimental material:

Mendel selected pea plant (Pisum sativum) because:

  1. Many varieties were available with observable alternative forms for a trait or a characteristic.
  2. Peas normally self-pollinate as their corolla completely encloses the reproductive organs until pollination is complete.
  3. It was easily available.
  4. It has pure lines for experimental purpose, i.e. they always breed true.
  5. It has contrasting characters. The traits were seed colour, pod colour, pod shape, flower shape, the position of flower, seed shape and plant height.
  6. Its life cycle was short and produced a large number of offsprings.
  7. The plant can be grown easily and does not require care except at the time of pollination.

Question 4.
Differentiate between the following:
(i) Dominance and recessiveness
Answer:
Differences between dominance and recessiveness:

Dominance Recessiveness
(1) Dominant gene or factor is able to express itself even in the presence of its recessive allele. (1) Recessive gene or factor is unable to express itself in the presence of dominant allele.
(2) It expresses itself because it forms complete polypeptide or enzyme for expressing its effect. (2) The recessive gene forms an incomplete or defective polypeptide or enzyme thus fails to express its effect.

(ii) Homozygous and heterozygous
Answer:
Differences between homozygous individual and a heterozygous individual:

homozygous individual heterozygous individual
(1) In a homozygous individual (homo-zygote) the two genes for a particular character are identical (TT) or (tt). (1) The heterozygous individual (hetero zygote) possesses contrasting genes of a pair çrt).
(2) They form identical gametes for a particular character. (2) They form dissimilar gametes for a particular character.
(3) They breed true for a specific trait. (3) They do not breed true.

Question 5.
Explain the law of dominance using a monohybrid cross.
Answer:
Law of Dominance. According to this law, when two factors of a character are unlike, one of them will manifest in the body and is called dominant while the other remains hidden and is termed recessive factor.

The law can be well explained by the monohybrid cross by studying the following crosses:
(i) Pure tall = TT, Hybrid tall = Tt

Gametes of TT parent = (frac < 1 >< 2 >)T + (frac < 1 >< 2 >)T
Gametes of Tt parent = (frac < 1 >< 2 >)T + (frac < 1 >< 2 >)t

The 50% are pure tall and 50% hybrid tall. Then pure tall plants will produce 100% tall in F2 generation and hybrid plants will produce in the ratio of 1: 2: 1 in the F2 generation.

(ii) When the cross is made between pure tall and pure dwarf, we get results as follows (Fig.).


A Punnett square used to understand a typical monohybrid cross conducted by Mendes between true-breeding tall plants and true-breeding dwarf plants

Question 6.
Define and design a test cross.
Answer:
Test Cross: It is a cross between an organism of an unknown genotype and a homozygous recessive organism.

Results of a Test Cross: If the test cross yields offspring of which 50% show the dominant character and 50% show the recessive character, i.e. F1 ratio is 1: 1, the individual under test is heterozygous (see fig.). This is so because the individual showing the recessive trait (say white coat colour in the guinea pig, dwarf size in pea plant) must have received one recessive allele (b in a guinea pig, t in pea plant) from each parent.


Genetics of a test cross

If all the offspring of the test cross show the dominant trait, the individual being tested is homozygous dominant with genotype BB for a guinea pig and TT for pea plant (fig.).

Question 7.
When a cross is made between a tall plant with yellow seeds (TtYy) and tall plant with green seeds (Ttyy), what proportions of phenotype In the offspring could be expected to be
(i) tall and green
(ii) dwarf and green?
Answer:


Cross between a tall plant with yellow seeds

Question 8.
Differentiate back cross and test cross.
Answer:
Differences between the back cross and test cross:

Question 9.
Differentiate incomplete dominance and codominance.
or
Explain the following terms with an example:
(i) Codominance
(ii) Incomplete dominance (CBSE Outside Delhi 2008 Delhi 2011, 2019)
Answer:
Differences between incomplete dominance and codominance:

Incomplete Dominance Codominance
(1) Effect of one of the two alleles is more prominent. (1) The effect of both the alleles is equally prominent.
(2) It produces a fine mixture of the expression of two alleles. (2) There is no mixing of the effect of the two alleles.
(3) The effect in hybrid is intermediate of the expression of the two alleles, e.g. pink coloured snapdragon obtained as a result of cross-pollination between red and white snapdragon flowers. (3) Both the alleles produce their effect independently, e.g. I A and l B , Hb S and Hb A .

Question 10.
(i) Why is the human ABO blood group gene considered a good example of multiple alleles?
Answer:
A B O blood groups are controlled by a single gene: (I) The plasma membrane of the red blood cells has sugar polymers that protrude from its surface and is controlled by the gene. The gene (I) has three alleles l A , l B and l O . Presence of more than two types of alleles at the same locus governing the same character is called multiple alleles.

(ii) Work out across up to F2 generation only, between a mother with blood group A (Homozygous) and the father with blood group B (Homozygous). Explain the pattern of inheritance exhibited. (CBSE (Delhi) 2013)
Or
Describe the mechanism of a pattern of inheritance of ABO blood groups in human. (CBSE 2011)
Answer:
Patterns of inheritance of the ABO blood group.


F1 generation. All with blood group AB. It is a case of co-dominance.

Question 11.
(i) What is polygenic inheritance? Explain with the help of a suitable example, (ii) How are pleiotropy and Mendelian pattern of inheritance different from the polygenic pattern of inheritance? (CBSE Outside Delhi 2016)
Or
Certain phenotypes in the human population are spread over a gradient and reflect the contribution of more than two genes. Mention the term used for the type of inheritance. Describe it with the help of an example in the human population. (CBSE Sample Paper 2019-20)
Answer:
(i) Polygenic inheritance. It is a type of inheritance controlled by three or more genes in which the dominant alleles have a cumulative effect. Each dominant allele expresses a part or unit of a trait. It is also called quantitative inheritance or multiple factor inheritance. The genes involved in such kind of inheritance are termed polygenes.

  1. Kernel colour in wheat
  2. Cob length in maize
  3. Skin colour in human
  4. Human intelligence Human Skin Colour. It is caused by the pigment melanin.

The quantity of melanin is due to three pairs of polygenes (A, B and C). The genotype of black will be (AA BB CC) and white will have (aa bb cc). Marriage between two such persons will show variations. In progeny (Aa Bb CC) there will be 7 types of phenotypes i.e. very dark, 6 dark, 15 fairly dark, 20 intermediates, 15 family light, 6 light and have very light.

(ii) How are pleiotropy and Mendelian pattern of inheritance different from the polygenic pattern of inheritance? (CBSE Outside Delhi 2016)
Answer:

1. Pleiotropy and Mendelian pattern of inheritance: In the case of pleiotropy one gene has an effect on two on more traits. One effect is more evident in the case of one trait (major effect) and less evident in the case of others (secondary effect). The mendelian pattern of inheritance is monogenic.

2. In pleiotropism and monogenic inheritance no intermediates are produced and show discontinuous variations in the expression of a trait. Intermediates are quite common in polygenic inheritance and produce continuous variations in the expression of a trait.

Question 12.
(i) Write the scientific name of the organism Thomas Hunt Morgan and his colleagues worked with for their experiments. Explain the correlation between linkage and recombination with respect to genes as studied by them.
Answer:
Thomas Hunt Morgan and his colleagues worked with Drosophila melanogaster. They carried out several dihybrid crosses in Drosophila to study gens that were sex-linked.

Morgan and his group knew that the genes were located on the X chromosome and noticed that when the two genes in a dihybrid cross were situated on the same chromosome, the proportion of parental gene combinations were much higher than the non-parental type.

Morgan attributed this due to the physical association or linkage of th< two genes. He coined the term links to describe this physical associate of genes on a chromosome and t/ term recombination to describe t generation of non-parental age combination. Morgan and his also found that even when genes w grouped on the same chromos or some genes were very tightly linked, they showed very low recombine while others were loosely linked.

(ii) How did Sturtevant explain gene mapping while working with Morgan? (CBSE Delhi 2018)
Answer:
Alfred Sturtevant was Morgan’s student. He used the frequency of recombination between gene pairs on the same chromosome as a measure of the distance between genes and ‘mapped’ their position on the chromosome. Today genetic mappings are extensively used as a starting point in the sequencing of the whole genomes.

Question 13.
What is recombination? Discuss the applications of recombination from the point of view of genetic engineering.
Answer:
Recombination refers to the generation of a new combination of genes which is different from the parental types. It is produced due to crossing over that occurs during meiosis prior to gamete formation.

Applications of recombination:

  1. It is a means of introducing new combinations of genes and hence new traits.
  2. It increases variability which is useful for natural selection under changing environment.
  3. It is used for preparing linkage chromosome maps.
  4. It has proved that genes lie in a linear fashion in the chromosome.
  5. Breeders have to select small or large population for obtaining the required cross-overs. For obtaining cross-overs between closely linked genes, a very large population is required.
  6. Useful recombinations produced by crossing over are picked up by breeders to produce useful new varieties of crop plants and animals. Green revolution and white revolution were implemented using the selective recombination technique.

Question 14.
How is sex determined? (CBSE Delhi 2015)
Answer:
Determination of the sex of the child. Sex chromosomes determine sex in human beings. In males, there are 44+XY chromosomes, whereas in female there are 44+XX chromosomes. Here X and Y chromosomes determine sex in human beings.

Two types of gametes are formed in male, one type is having 50% X-chromosome, whereas another type is having Y-chromosome. In a female, gametes are of one type and contain X-chromosome. Thus females are homogametic and males are heterogametic. If male gamete having Y-chromosome (endosperm) undergoes fusion with female gamete having X-chromosome, the zygote will have XY chromosome and this gives rise to a male child.

If male gamete having X-chromosome (gymnosperm) undergoes fusion with female gamete having X-chromosome, the zygote will be having XX-chromosome and this gives rise to the female child.


Genetics of sex in human beings. The letter A represents autosomes.

Question 15.
Both haemophilia and thalassemia are blood-related disorders in human. Write their causes and the difference between the two. Name the category of genetic disorder they both come under. (CBSE Delhi 2017)
Answer:
Both haemophilia and thalassemia are Mendelian disorders:

  • Haemophilia is a sex-linked recessive disorder. The gene for haemophilia is located on X-chromosome. The gene passes from a carrier female to her son.
  • Thalassemia is an autosomal-linked recessive disease.
  • It occurs due to either mutation or deletion resulting in the reduced rate of synthesis of one of the globin chains of haemoglobin.
  • Difference between Haemophilia and Thalassemia. In haemophilia, clotting is affected, i.e. there can be a non-stop bleeding even after a minor cut.
  • In Thalassemia anaemia is the characteristic of this disease. It is caused by faulty haemoglobin synthesis.

Question 16.
Differentiate male and female heterogamety. (CBSE Delhi 2015, 2019 C)
Answer:
Differences between male and female heterogamety:

Male heterogamety female heterogamety
(1) Mate heterogamety refers to the phenomenon, where mates produce two (more than one) types of sperms. (1) Female heterogamety refers to the phenomenon, where females produce two (more than one) types of ova.
(2) Sex of the individual is determined by the type of sperm fertilising the ovum. (2) Sex of the individual is determined by the type of ovum that is fertilisers.
(3) XX female XY male (3) ZZ male and ZW female.

Question 17.
Why Drosophila has been used extensively for genetical studies? (CBSE 2014, 2019 C)
Answer:
Advantages of using Drosophila as genetic material:
Drosophila is a very useful organism for genetical experiments because:

  1. A very large number of offsprings are produced after each mating.
  2. It can be cultured in large number in laboratory and animals can be easily examined under a hand lens.
  3. Its life cycle is very short and is completed in 10-12 days. A new generation can be obtained every two weeks.
  4. It has four pairs of chromosomes all different in size and easily distinguishable.
  5. They produce numerous variants.
  6. It has heteromorphic (XY) chromosomes in the male.
  7. Female Drosophila flies can be easily differentiated from the males by the large body size and presence of ovipositor in the abdomen.

Question 18.
Mendel published his work on the inheritance of characters in 1865, but it remained unrecognised till 1900. Give three reasons for the delay in accepting his work. (CBSE Delhi 2014)
Answer:
Mendel’s work published as “Experiments on plant hybridisation” remained unnoticed and unappreciated for some 34 years due to:

  1. Limited circulation of the “Proceedings of Brunn Natural Science Society” in which it was published.
  2. He could not convince himself about his conclusions being universal since Mendel failed to reproduce the results on Hawkweed (Hieracium) undertaken on the suggestion of Naegeli. It was due to non-availability of pure lines.
  3. Absence of aggressiveness in his personality.
  4. The scientific world was being rocket^ at that time by Darwin’s theory c>f Natural Selection.

Question 19.
Compare in any three ways the chromosomal theory of inheritance as proposed by Sutton and Boveri with that of experimental results on pea pie int presented by Mendel. (CBSE Delhi 2019)
Answer:

Sutton and Boveri Mendel
(1) Chromosomes occur in pairs. (1) Factors occur in pairs.
(2) Chromosomes segregate during gamete formation such that only one of each pair is transmitted to a gamete. (2) Factors segregate during gamete formation stage and only one of each pair is transmitted to a gamete.
(3) Independent pairs of chromosomes segregate independently of each other. (3) One pair of factors segregate independently of another pair.

Question 20.
(a) Explain linkage and recombination as put forth by T.H. Morgan based on his observations with Drosophila melanogaster crossing experiment.
(b) Write the basis on which Alfred Sturtevant explained gene mapping. (CBSE Delhi 2019)
Answer:
(a) Linkage and recombination:

  • Morgan is called the father of experimental genetics.
  • Morgan used Drosophila for experiments of genetics.
  • Linkage: It is the phenomenon of certain genes staying together during inheritance through several generations without any change or separation of these being present on the same chromosome. The two genes do not segregate independently of each other. So, F2 generation deviates significantly from 9:3:3:1.
  • Recombination: Loosely linked genes show a higher frequency of recombinant frequency which is around 37.2%. Tightly linked genes tend to show fewer recombinant frequency which is around 1.3%.

(b) Morgan’s student Alfred Sturtevant used the frequency of recombination between gene pairs on the same chromosome as a measure of the distance between genes and mapped their position on a chromosome.

Question 21.
ExplaIn how a test cross can be conducted to distinguish between a homozygous and heterozygous dominant genotype. What is the test cross? How can it decipher heterozygosity of a plant? (CBSE Delhi 2016)
Or
How will you find out whether a given plant is homozygous dominant? (CBSE 2008)
Or
You are given a tall pea plant and asked to find its genotype. How will you find it? (CBSE Outside Delhi 2019)
Answer:
Test Cross. When an individual is crossed to recessive parent it is called a test cross. The results can be easily analysed. If you follow the monohybrid cross where the FT is test crossed, a ratio of 1:1 will be obtained. On the same basis, you can work out that in a dihybrid case, the test cross ratio will be 1:1:1:1. Test cross can also be used for another purpose.

You must have understood by now that the homo and heterozygous genotypes for a dominant trait cannot be differentiated because they show the same phenotype. If we put them through a test cross, you will see that all homozygous dominant combinations will breed true but heterozygous genotypes will follow the segregation.


A test cross can be conducted to differentiate between a homozygous and heterozygous dominant genotype.

Question 22.
Explain the law of independent assortment with a dihybrid cross. (CBSE Outside Delhi, 2013, 2014)
Answer:
Law of independent assortment: According to this law, the factors of different pairs of contrasting characters do not influence each other. They are independent of one another in their assortment to form a new combination during gamete formation. Dihybrid cross. A cross in which two characters are taken into consideration during experimentation, such a cross is called dihybrid cross.

A cross between a pea plant with yellow smooth and a pea plant with green, wrinkled seeds is considered. Explanation. When a cross is made between pea plant having yellow smooth seeds (YYSS) and a pea plant with green wrinkled seeds (yyss). At the time of cross-pollination, yellow smooth (YYSS) produces gametes with genes (YS) and green wrinkled will produce gametes with gene (ys). Gametes unite at random. The seeds obtained when placed in the soil will grow to form plants and produce seeds which are yellow smooth (YySs) because yellow and smooth characters are dominant over green and wrinkled. These are called plants of F1 generation.

When plants of F1 generation are allowed to self-pollinate gametes formed YS, Ys, yS and ys by meiosis, they unite at random forming seeds. The plants thus obtained are called F2 generation. They are Yellow smooth (YYSS, YySS, YySs, YYSs) yellow wrinkled (YYss, Yyss), green smooth (yySS, yySs) and green wrinkled (yyss) in the ratio of 9: 3: 3: 1. The result of a dihybrid cross can be shown in Fig. on the chequerboard.


Result of a dihybrid cross.

From the above dihybrid cross, it can be derived that each gene is assorted independently of the other during its passage from one generation to the other or law of independent assortment is justified.

Question 23.
In four o’clock plants, red colour (R) is incompletely dominant over white (r), the heterozygous having pink colour. What will be the offspring in a cross between a red flower and a pink flower? (CBSE Outside Delhi, 2013)
Answer:

  1. In the monohybrid cross, red is incompletely dominant over white.
  2. Red flowered plants have genotype RR and white-flowered plants have genotype rr.
  3. Pink flowers have a genotype Rr.
  4. Red flowering plants will form gametes with R genes and pink flowers will produce two types of gametes with R gene and r gene.
  5. Arrangement of gametes in chequerboard.

Question 24.
Explain the pattern of inheritance of haemophilia in humans. Why is the possibility of a human female becoming a haemophilic extremely rare? Explain. (CBSE Delhi, 2008 Outside Delhi 2011)
Or
Why is human female rarely haemophilic? Explain how do haemophilic patients suffer? (CBSE Outside Delhi 2013)
Answer:
A pattern of inheritance of haemophilia:

  1. It is the sex-linked recessive trait which is known as bleeder’s disease because the exposed blood does not readily clot due to deficiency of plasma thromboplastin (haemophilia B/ Christmas disease) or Antihaemophilia globulin (haemophilia A)
  2. The defect has been inherited in the family of British Crown through Queen Victoria.
  3. In females, haemophilia appears when both the sex chromosomes carry its recessive gene, X h X h . Such females die before birth.
  4. A woman having a single allele of the trait appears normal but is a carrier of the disease XX h
  5. For sex-linked genes, human males are hemizygous. Therefore, X h Y is haemophilic.
  6. Marriage between haemophilic male and carrier female produces haemophilic sons (X h Y, 50%), normal sons (XY, 50%), carrier daughters (XX h , 50%) and haemophilic daughters (X h X h , 50%, die before birth).
  7. Haemophilic man (X h Y) and normal woman (XX) produce carrier girls (XX h ) and normal boys (XY).
  8. Marriage between carrier woman and normal man produce 50% carrier girls (XX h ), 50% normal girls (XX), 50% normal boys (XY) and 50% haemophilic boys (X h Y).

    Sons- 50% normaL 50% heamophitic
    Daughters- 50% normaL 50% camer
  9. The possibility of a female becoming haemophilic is very rare because the mother of such a female has to be at least a carrier and father should be haemophilic.

Question 25.
A colourblind child is born to a normal couple. Work out a cross to show how is it possible. Mention the sex of this child. (CBSE Delhi 2014, 2016)
Answer:
(a) Colourblindness is an X-linked recessive disease


So, the sex of the child is male.

Question 26.
1. How does a chromosomal disorder differ from a Mendelian disorder?
2. Name any two chromosomal aberra¬tion associated disorders.
3. List the characteristics of the disorders mentioned above that help in their diagnosis. (CBSE 2010)
Or
How does gain or loss of chromosome(s) take place in humans? Describe one example each of chromosomal disorder along with the symptoms involving an autosome and a sex chromosome. (CBSE Sample Paper 2019-20)
Answer:
1. Mendelian disorders are mainly determined by alteration or mutation in a single gene. These disorders are transmitted to the offspring on the basis of Mendelian inheritance, e.g. haemophilia, sickle cell anaemia. Chromosomal disorders are caused due to absence or excess or abnormal arrangement of one or more chromosomes. They are caused due to failure of segregation of chromatids during cell division or due to polyploidy. e.g. Down’s syndrome, Klinefelter syndrome.

2. Chromosomal aberration associated disorders.
(a) Down’s syndrome
(b) Klinefelter syndrome.

3. (a) Down’s syndrome. It is caused due to an additional copy of chromosome number 21 (Trisomy).
Symptoms: Short statured body, small rounded head, furrowed tongue, partially open mouth.

(b) Klinefelter syndrome. It is caused due to an additional copy of X-chromosomes (47 chromosome XXY).
Symptoms. Overall masculine development but the development of breast also occurs. These individuals are sterile.

Question 27.
A true-breeding pea plant, homozygous for inflated green pods (FFGG) is crossed with another pea plant with constricted yellow pods (ffgg). What would be the phenotype and genotype F1 and F2 genotype? Give the phenotype ratio of F2 generation. (CBSE Delhi 2008)
Answer:

Question 28.
A true-breeding pea plant homozygous for axial violet flowers (AAW) crossed with another pea plant with terminal white flowers (aaw).
(i) What would be phenotype and genotype of F1 and F2 generations
Answer:

(ii) Give the phenotype ratio of F2 generations. (CBSE Delhi. 2008)
Answer:

Question 29.
A child suffering from Thalassemia is born to a normal couple. But the mother is being blamed by the family for delivering a sick baby.
(i) What is Thalassemia?
Answer:
Thalassemia: It is an autosomal recessive blood disease that appears in children of two unaffected carriers, heterozygote parents. The defect occurs due to mutation or deletion of the genes controlling the formation of globin chain (commonly a and P) of haemoglobin. Imbalanced synthesis of globin chains of haemoglobin causes anaemia. Thalassemia is of three types a, p, and 8.

(ii) How would you counsel the family not to blame the mother for delivering a child suffering from this disease? Explain.
Answer:
I would explain to the people around that this disease can be caused due to the presence of a defective gene in both the parents or it may be caused due to certain changes with the genetic setup.

(iii) List the values your counselling can propagate in the families. (CBSE Delhi 2013)
Answer:
People had a good understanding and had to realize the situation. They become supportive and made joint efforts to help the patients.

Question 30.
In a dihybrid cross, white-eyed, yellow-bodied female Drosophila was crossed with red-eyed, brown-bodied male Drosophila. The cross produced 1.3 per cent recombinants and 98.7 progeny with parental type combinations in the F2 generation. Analyse the above observation and compare with the Mendelian dihybrid cross. (CBSE Sample Paper 2018-19)
Answer:
Morgan observed that the two genes did not segregate independently of each other and the F2 ratio deviated vary significantly from the 9:3:3:1 ratio.

He attributed this to physical association or linkage of two genes and coined the term linkage and the term recombination to describe the generation of non-parental gene combinations.

Morgan and his group found that even when the genes are grouped on the same chromosome, some genes are very tightly linked (show very low recombination) while others were loosely linked (showed higher recombination). in the Mendelian dihybrid cross, the phenotypes round, yellow wrinkled, yellow round, green and wrinkled, green appeared in the ratio 9:3:3:1.

Wrinkled, yellow and round, green is possible because the distance between two genes is more. Therefore, recombination of parental type is possible.

Question 31.
Aneuploidy of chromosomes in human beings results in certain disorders. Draw out the possibilities of the karyotype in common disorders of this kind in human beings and its consequences in individuals. (CBSE Sample Paper 2018-19)
Or
A doctor after conducting certain tests on a pregnant woman advised her to undergo M.T.P., as the foetus she was carrying showed trisomy of 21st chromosome.
(a) State the cause of trisomy of the 21 st chromosome.
Answer:
(a) Down’s syndrome, Turner’s syndrome, Klinefelter’s syndrome are common examples of Aneuploidy of chromosomes in human beings.

  • Down’s syndrome results in the gain of the extra copy of chromosome 21- trisomy.
  • Turner’s syndrome results due to the loss of an X chromosome in human females- XO monosomy.
  • Klinefelter’s syndrome is caused due to the presence of an additional copy of X- chromosome resulting in XXY condition.

(b) Why was the pregnant woman advised to undergo M.T.P. and not to complete the full term of her pregnancy? Explain. (CBSE Delhi 2019 C)
Answer:
Down’s Syndrome: The affected individual is

  • short statured with small round head furrowed tongue and partially open mouth
  • Palm is broad with characteristic palm crease
  • Physical, psychomotor, and mental development is retarded.

Klinefelter’s Syndrome: The affected individual is

Turner’s Syndrome: The affected individual shows the following characters:

  • Females are sterile as ovaries are rudimentary
  • lack of other secondary sexual characters


XX-XO determination of sex in the cockroach.


Formation of recombinant as well as non-recombinant (parental type) gametes.
Forms of chromosomal mutations.


Contents

Inheritance of traits for humans are based upon Gregor Mendel's model of inheritance. Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes. [1]

Autosomal dominant inheritance Edit

Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)—they are called "dominant" because a single copy—inherited from either parent—is enough to cause this trait to appear. This often means that one of the parents must also have the same trait, unless it has arisen due to an unlikely new mutation. Examples of autosomal dominant traits and disorders are Huntington's disease and achondroplasia.

Autosomal recessive inheritance Edit

Autosomal recessive traits is one pattern of inheritance for a trait, disease, or disorder to be passed on through families. For a recessive trait or disease to be displayed two copies of the trait or disorder needs to be presented. The trait or gene will be located on a non-sex chromosome. Because it takes two copies of a trait to display a trait, many people can unknowingly be carriers of a disease. From an evolutionary perspective, a recessive disease or trait can remain hidden for several generations before displaying the phenotype. Examples of autosomal recessive disorders are albinism, cystic fibrosis.

X-linked and Y-linked inheritance Edit

X-linked genes are found on the sex X chromosome. X-linked genes just like autosomal genes have both dominant and recessive types. Recessive X-linked disorders are rarely seen in females and usually only affect males. This is because males inherit their X chromosome and all X-linked genes will be inherited from the maternal side. Fathers only pass on their Y chromosome to their sons, so no X-linked traits will be inherited from father to son. Men cannot be carriers for recessive X linked traits, as they only have one X chromosome, so any X linked trait inherited from the mother will show up.

Females express X-linked disorders when they are homozygous for the disorder and become carriers when they are heterozygous. X-linked dominant inheritance will show the same phenotype as a heterozygote and homozygote. Just like X-linked inheritance, there will be a lack of male-to-male inheritance, which makes it distinguishable from autosomal traits. One example of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This mutation results in skeletal, craniofacial abnormalities, mental retardation, and short stature.

X chromosomes in females undergo a process known as X inactivation. X inactivation is when one of the two X chromosomes in females is almost completely inactivated. It is important that this process occurs otherwise a woman would produce twice the amount of normal X chromosome proteins. The mechanism for X inactivation will occur during the embryonic stage. For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active. Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely active X chromosome.

Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. Since Y chromosomes can only be found in males, Y linked traits are only passed on from father to son. The testis determining factor, which is located on the Y chromosome, determines the maleness of individuals. Besides the maleness inherited in the Y-chromosome there are no other found Y-linked characteristics.

Pedigrees analysis Edit

A pedigree is a diagram showing the ancestral relationships and transmission of genetic traits over several generations in a family. Square symbols are almost always used to represent males, whilst circles are used for females. Pedigrees are used to help detect many different genetic diseases. A pedigree can also be used to help determine the chances for a parent to produce an offspring with a specific trait.

Four different traits can be identified by pedigree chart analysis: autosomal dominant, autosomal recessive, x-linked, or y-linked. Partial penetrance can be shown and calculated from pedigrees. Penetrance is the percentage expressed frequency with which individuals of a given genotype manifest at least some degree of a specific mutant phenotype associated with a trait.

Inbreeding, or mating between closely related organisms, can clearly be seen on pedigree charts. Pedigree charts of royal families often have a high degree of inbreeding, because it was customary and preferable for royalty to marry another member of royalty. Genetic counselors commonly use pedigrees to help couples determine if the parents will be able to produce healthy children.

Karyotype Edit

A karyotype is a very useful tool in cytogenetics. A karyotype is picture of all the chromosomes in the metaphase stage arranged according to length and centromere position. A karyotype can also be useful in clinical genetics, due to its ability to diagnose genetic disorders. On a normal karyotype, aneuploidy can be detected by clearly being able to observe any missing or extra chromosomes. [1]

Giemsa banding, g-banding, of the karyotype can be used to detect deletions, insertions, duplications, inversions, and translocations. G-banding will stain the chromosomes with light and dark bands unique to each chromosome. A FISH, fluorescent in situ hybridization, can be used to observe deletions, insertions, and translocations. FISH uses fluorescent probes to bind to specific sequences of the chromosomes that will cause the chromosomes to fluoresce a unique color. [1]

Genomics is the field of genetics concerned with structural and functional studies of the genome. [1] A genome is all the DNA contained within an organism or a cell including nuclear and mitochondrial DNA. The human genome is the total collection of genes in a human being contained in the human chromosome, composed of over three billion nucleotides. [2] In April 2003, the Human Genome Project was able to sequence all the DNA in the human genome, and to discover that the human genome was composed of around 20,000 protein coding genes.

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics is the application of genetics to medical care. It overlaps human genetics, for example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.

Population genetics is the branch of evolutionary biology responsible for investigating processes that cause changes in allele and genotype frequencies in populations based upon Mendelian inheritance. [3] Four different forces can influence the frequencies: natural selection, mutation, gene flow (migration), and genetic drift. A population can be defined as a group of interbreeding individuals and their offspring. For human genetics the populations will consist only of the human species. The Hardy–Weinberg principle is a widely used principle to determine allelic and genotype frequencies.

In addition to nuclear DNA, humans (like almost all eukaryotes) have mitochondrial DNA. Mitochondria, the "power houses" of a cell, have their own DNA. Mitochondria are inherited from one's mother, and their DNA is frequently used to trace maternal lines of descent (see mitochondrial Eve). Mitochondrial DNA is only 16kb in length and encodes for 62 genes.

Genes and sex Edit

The XY sex-determination system is the sex-determination system found in humans, most other mammals, some insects (Drosophila), and some plants (Ginkgo). In this system, the sex of an individual is determined by a pair of sex chromosomes (gonosomes). Females have two of the same kind of sex chromosome (XX), and are called the homogametic sex. Males have two distinct sex chromosomes (XY), and are called the heterogametic sex.

X-linked traits Edit

Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual. This mode of inheritance is in contrast to the inheritance of traits on autosomal chromosomes, where both sexes have the same probability of inheritance. Since humans have many more genes on the X than the Y, there are many more X-linked traits than Y-linked traits. However, females carry two or more copies of the X chromosome, resulting in a potentially toxic dose of X-linked genes. [4]

To correct this imbalance, mammalian females have evolved a unique mechanism of dosage compensation. In particular, by way of the process called X-chromosome inactivation (XCI), female mammals transcriptionally silence one of their two Xs in a complex and highly coordinated manner. [4]


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Is it common to have multiple recessive traits in humans? - Biology

Single Gene Traits in Humans

The following is a list of some autosomal human traits that have been attributed to a single gene. Although clearly other genes are involved, the inheritance of each of these phenotypic traits acts as if it were governed by a single gene. First, indicate your expression of the trait (i.e., circle the appropriate phenotype). Then, indicate if you exhibit the dominant or recessive trait (D or R?). Finally, using any letters/symbols you want, write your genotype for the trait (hint: if you show the recessive trait, your genotype will be homozygous recessive (i.e., "aa"). If you exhibit the dominant trait your genotype could be homozygous dominant (i.e., "AA") or heterozygous (i.e., "Aa"). A shorthand symbol for this is "A_"). How could you distinguish between these possibilities?

Dominant or recessive phenotype?

Tongue Rolling (Dominant)

Widow's Peak (D) - just like Eddie Munster

Wet ear wax (D) - stick your finger in to check

L/R interlocking finger (D) - without thinking, clasp your hands together, is the right thumb over the left, or vice versa?

Attached earlobes (D) - ask a neighbor or check out the mirror

Hitchhiker Thumb (r) - does it bend back at a 90 angle

PTC tasting (D) - I'll have some test paper in class

Chin fissure (D) - like actor Michael Douglas

Darwin tubercle (D) - little bump on the inside of the ear

S-methylthioester detection (Recessive) - can you smell asparagus odor in urine?


60 Characteristics and Traits

By the end of this section, you will be able to do the following:

  • Explain the relationship between genotypes and phenotypes in dominant and recessive gene systems
  • Develop a Punnett square to calculate the expected proportions of genotypes and phenotypes in a monohybrid cross
  • Explain the purpose and methods of a test cross
  • Identify non-Mendelian inheritance patterns such as incomplete dominance, codominance, recessive lethals, multiple alleles, and sex linkage

Physical characteristics are expressed through genes carried on chromosomes. The genetic makeup of peas consists of two similar, or homologous, copies of each chromosome, one from each parent. Each pair of homologous chromosomes has the same linear order of genes. In other words, peas are diploid organisms in that they have two copies of each chromosome. The same is true for many other plants and for virtually all animals. Diploid organisms produce haploid gametes, which contain one copy of each homologous chromosome that unite at fertilization to create a diploid zygote.

For cases in which a single gene controls a single characteristic, a diploid organism has two genetic copies that may or may not encode the same version of that characteristic. Gene variants that arise by mutation and exist at the same relative locations on homologous chromosomes are called alleles . Mendel examined the inheritance of genes with just two allele forms, but it is common to encounter more than two alleles for any given gene in a natural population.

Phenotypes and Genotypes

Two alleles for a given gene in a diploid organism are expressed and interact to produce physical characteristics. The observable traits expressed by an organism are referred to as its phenotype . An organism’s underlying genetic makeup, consisting of both physically visible and non-expressed alleles, is called its genotype . Mendel’s hybridization experiments demonstrate the difference between phenotype and genotype. When true-breeding plants in which one parent had yellow pods and one had green pods were cross-fertilized, all of the F1 hybrid offspring had yellow pods. That is, the hybrid offspring were phenotypically identical to the true-breeding parent with yellow pods. However, we know that the allele donated by the parent with green pods was not simply lost because it reappeared in some of the F2 offspring. Therefore, the F1 plants must have been genotypically different from the parent with yellow pods.

The P1 plants that Mendel used in his experiments were each homozygous for the trait he was studying. Diploid organisms that are homozygous at a given gene, or locus, have two identical alleles for that gene on their homologous chromosomes. Mendel’s parental pea plants always bred true because both of the gametes produced carried the same trait. When P1 plants with contrasting traits were cross-fertilized, all of the offspring were heterozygous for the contrasting trait, meaning that their genotype reflected that they had different alleles for the gene being examined.

Dominant and Recessive Alleles

Our discussion of homozygous and heterozygous organisms brings us to why the F1 heterozygous offspring were identical to one of the parents, rather than expressing both alleles. In all seven pea-plant characteristics, one of the two contrasting alleles was dominant, and the other was recessive. Mendel called the dominant allele the expressed unit factor the recessive allele was referred to as the latent unit factor. We now know that these so-called unit factors are actually genes on homologous chromosome pairs. For a gene that is expressed in a dominant and recessive pattern, homozygous dominant and heterozygous organisms will look identical (that is, they will have different genotypes but the same phenotype). The recessive allele will only be observed in homozygous recessive individuals ((Figure)).

Human Inheritance in Dominant and Recessive Patterns
Dominant Traits Recessive Traits
Achondroplasia Albinism
Brachydactyly Cystic fibrosis
Huntington’s disease Duchenne muscular dystrophy
Marfan syndrome Galactosemia
Neurofibromatosis Phenylketonuria
Widow’s peak Sickle-cell anemia
Wooly hair Tay-Sachs disease

Several conventions exist for referring to genes and alleles. For the purposes of this chapter, we will abbreviate genes using the first letter of the gene’s corresponding dominant trait. For example, violet is the dominant trait for a pea plant’s flower color, so the flower-color gene would be abbreviated as V (note that it is customary to italicize gene designations). Furthermore, we will use uppercase and lowercase letters to represent dominant and recessive alleles, respectively. Therefore, we would refer to the genotype of a homozygous dominant pea plant with violet flowers as VV, a homozygous recessive pea plant with white flowers as vv, and a heterozygous pea plant with violet flowers as Vv.

The Punnett Square Approach for a Monohybrid Cross

When fertilization occurs between two true-breeding parents that differ in only one characteristic, the process is called a monohybrid cross, and the resulting offspring are monohybrids. Mendel performed seven monohybrid crosses involving contrasting traits for each characteristic. On the basis of his results in F1 and F2 generations, Mendel postulated that each parent in the monohybrid cross contributed one of two paired unit factors to each offspring, and every possible combination of unit factors was equally likely.

To demonstrate a monohybrid cross, consider the case of true-breeding pea plants with yellow versus green pea seeds. The dominant seed color is yellow therefore, the parental genotypes were YY for the plants with yellow seeds and yy for the plants with green seeds, respectively. A Punnett square , devised by the British geneticist Reginald Punnett, can be drawn that applies the rules of probability to predict the possible outcomes of a genetic cross or mating and their expected frequencies. To prepare a Punnett square, all possible combinations of the parental alleles are listed along the top (for one parent) and side (for the other parent) of a grid, representing their meiotic segregation into haploid gametes. Then the combinations of egg and sperm are made in the boxes in the table to show which alleles are combining. Each box then represents the diploid genotype of a zygote, or fertilized egg, that could result from this mating. Because each possibility is equally likely, genotypic ratios can be determined from a Punnett square. If the pattern of inheritance (dominant or recessive) is known, the phenotypic ratios can be inferred as well. For a monohybrid cross of two true-breeding parents, each parent contributes one type of allele. In this case, only one genotype is possible. All offspring are Yy and have yellow seeds ((Figure)).


A self-cross of one of the Yy heterozygous offspring can be represented in a 2 × 2 Punnett square because each parent can donate one of two different alleles. Therefore, the offspring can potentially have one of four allele combinations: YY, Yy, yY, or yy ((Figure)). Notice that there are two ways to obtain the Yy genotype: a Y from the egg and a y from the sperm, or a y from the egg and a Y from the sperm. Both of these possibilities must be counted. Recall that Mendel’s pea-plant characteristics behaved in the same way in reciprocal crosses. Therefore, the two possible heterozygous combinations produce offspring that are genotypically and phenotypically identical despite their dominant and recessive alleles deriving from different parents. They are grouped together. Because fertilization is a random event, we expect each combination to be equally likely and for the offspring to exhibit a ratio of YY:Yy:yy genotypes of 1:2:1 ((Figure)). Furthermore, because the YY and Yy offspring have yellow seeds and are phenotypically identical, applying the sum rule of probability, we expect the offspring to exhibit a phenotypic ratio of 3 yellow:1 green. Indeed, working with large sample sizes, Mendel observed approximately this ratio in every F2 generation resulting from crosses for individual traits.

Mendel validated these results by performing an F3 cross in which he self-crossed the dominant- and recessive-expressing F2 plants. When he self-crossed the plants expressing green seeds, all of the offspring had green seeds, confirming that all green seeds had homozygous genotypes of yy. When he self-crossed the F2 plants expressing yellow seeds, he found that one-third of the plants bred true, and two-thirds of the plants segregated at a 3:1 ratio of yellow:green seeds. In this case, the true-breeding plants had homozygous (YY) genotypes, whereas the segregating plants corresponded to the heterozygous (Yy) genotype. When these plants self-fertilized, the outcome was just like the F1 self-fertilizing cross.

The Test Cross Distinguishes the Dominant Phenotype

Beyond predicting the offspring of a cross between known homozygous or heterozygous parents, Mendel also developed a way to determine whether an organism that expressed a dominant trait was a heterozygote or a homozygote. Called the test cross , this technique is still used by plant and animal breeders. In a test cross, the dominant-expressing organism is crossed with an organism that is homozygous recessive for the same characteristic. If the dominant-expressing organism is a homozygote, then all F1 offspring will be heterozygotes expressing the dominant trait ((Figure)). Alternatively, if the dominant expressing organism is a heterozygote, the F1 offspring will exhibit a 1:1 ratio of heterozygotes and recessive homozygotes ((Figure)). The test cross further validates Mendel’s postulate that pairs of unit factors segregate equally.


In pea plants, round peas (R) are dominant to wrinkled peas (r). You do a test cross between a pea plant with wrinkled peas (genotype rr) and a plant of unknown genotype that has round peas. You end up with three plants, all which have round peas. From this data, can you tell if the round pea parent plant is homozygous dominant or heterozygous? If the round pea parent plant is heterozygous, what is the probability that a random sample of 3 progeny peas will all be round?

Many human diseases are genetically inherited. A healthy person in a family in which some members suffer from a recessive genetic disorder may want to know if he or she has the disease-causing gene and what risk exists of passing the disorder on to his or her offspring. Of course, doing a test cross in humans is unethical and impractical. Instead, geneticists use pedigree analysis to study the inheritance pattern of human genetic diseases ((Figure)).


What are the genotypes of the individuals labeled 1, 2, and 3?

Alternatives to Dominance and Recessiveness

Mendel’s experiments with pea plants suggested that: (1) two “units” or alleles exist for every gene (2) alleles maintain their integrity in each generation (no blending) and (3) in the presence of the dominant allele, the recessive allele is hidden and makes no contribution to the phenotype. Therefore, recessive alleles can be “carried” and not expressed by individuals. Such heterozygous individuals are sometimes referred to as “carriers.” Further genetic studies in other plants and animals have shown that much more complexity exists, but that the fundamental principles of Mendelian genetics still hold true. In the sections to follow, we consider some of the extensions of Mendelism. If Mendel had chosen an experimental system that exhibited these genetic complexities, it’s possible that he would not have understood what his results meant.

Incomplete Dominance

Mendel’s results, that traits are inherited as dominant and recessive pairs, contradicted the view at that time that offspring exhibited a blend of their parents’ traits. However, the heterozygote phenotype occasionally does appear to be intermediate between the two parents. For example, in the snapdragon, Antirrhinum majus ((Figure)), a cross between a homozygous parent with white flowers (C W C W ) and a homozygous parent with red flowers (C R C R ) will produce offspring with pink flowers (C R C W ). (Note that different genotypic abbreviations are used for Mendelian extensions to distinguish these patterns from simple dominance and recessiveness.) This pattern of inheritance is described as incomplete dominance , denoting the expression of two contrasting alleles such that the individual displays an intermediate phenotype. The allele for red flowers is incompletely dominant over the allele for white flowers. However, the results of a heterozygote self-cross can still be predicted, just as with Mendelian dominant and recessive crosses. In this case, the genotypic ratio would be 1 C R C R :2 C R C W :1 C W C W , and the phenotypic ratio would be 1:2:1 for red:pink:white.


Codominance

A variation on incomplete dominance is codominance , in which both alleles for the same characteristic are simultaneously expressed in the heterozygote. An example of codominance is the MN blood groups of humans. The M and N alleles are expressed in the form of an M or N antigen present on the surface of red blood cells. Homozygotes (L M L M and L N L N ) express either the M or the N allele, and heterozygotes (L M L N ) express both alleles equally. In a self-cross between heterozygotes expressing a codominant trait, the three possible offspring genotypes are phenotypically distinct. However, the 1:2:1 genotypic ratio characteristic of a Mendelian monohybrid cross still applies.

Multiple Alleles

Mendel implied that only two alleles, one dominant and one recessive, could exist for a given gene. We now know that this is an oversimplification. Although individual humans (and all diploid organisms) can only have two alleles for a given gene, multiple alleles may exist at the population level such that many combinations of two alleles are observed. Note that when many alleles exist for the same gene, the convention is to denote the most common phenotype or genotype among wild animals as the wild type (often abbreviated “+”) this is considered the standard or norm. All other phenotypes or genotypes are considered variants of this standard, meaning that they deviate from the wild type. The variant may be recessive or dominant to the wild-type allele.

An example of multiple alleles is coat color in rabbits ((Figure)). Here, four alleles exist for the c gene. The wild-type version, C + C + , is expressed as brown fur. The chinchilla phenotype, c ch c ch , is expressed as black-tipped white fur. The Himalayan phenotype, c h c h , has black fur on the extremities and white fur elsewhere. Finally, the albino, or “colorless” phenotype, cc, is expressed as white fur. In cases of multiple alleles, dominance hierarchies can exist. In this case, the wild-type allele is dominant over all the others, chinchilla is incompletely dominant over Himalayan and albino, and Himalayan is dominant over albino. This hierarchy, or allelic series, was revealed by observing the phenotypes of each possible heterozygote offspring.


The complete dominance of a wild-type phenotype over all other mutants often occurs as an effect of “dosage” of a specific gene product, such that the wild-type allele supplies the correct amount of gene product whereas the mutant alleles cannot. For the allelic series in rabbits, the wild-type allele may supply a given dosage of fur pigment, whereas the mutants supply a lesser dosage or none at all. Interestingly, the Himalayan phenotype is the result of an allele that produces a temperature-sensitive gene product that only produces pigment in the cooler extremities of the rabbit’s body.

Alternatively, one mutant allele can be dominant over all other phenotypes, including the wild type. This may occur when the mutant allele somehow interferes with the genetic message so that even a heterozygote with one wild-type allele copy expresses the mutant phenotype. One way in which the mutant allele can interfere is by enhancing the function of the wild-type gene product or changing its distribution in the body. One example of this is the Antennapedia mutation in Drosophila ((Figure)). In this case, the mutant allele expands the distribution of the gene product, and as a result, the Antennapedia heterozygote develops legs on its head where its antennae should be.


Multiple Alleles Confer Drug Resistance in the Malaria Parasite Malaria is a parasitic disease in humans that is transmitted by infected female mosquitoes, including Anopheles gambiae ((Figure)a), and is characterized by cyclic high fevers, chills, flu-like symptoms, and severe anemia. Plasmodium falciparum and P. vivax are the most common causative agents of malaria, and P. falciparum is the most deadly ((Figure)b). When promptly and correctly treated, P. falciparum malaria has a mortality rate of 0.1 percent. However, in some parts of the world, the parasite has evolved resistance to commonly used malaria treatments, so the most effective malarial treatments can vary by geographic region.


In Southeast Asia, Africa, and South America, P. falciparum has developed resistance to the anti-malarial drugs chloroquine, mefloquine, and sulfadoxine-pyrimethamine. P. falciparum, which is haploid during the life stage in which it is infectious to humans, has evolved multiple drug-resistant mutant alleles of the dhps gene. Varying degrees of sulfadoxine resistance are associated with each of these alleles. Being haploid, P. falciparum needs only one drug-resistant allele to express this trait.

In Southeast Asia, different sulfadoxine-resistant alleles of the dhps gene are localized to different geographic regions. This is a common evolutionary phenomenon that occurs because drug-resistant mutants arise in a population and interbreed with other P. falciparum isolates in close proximity. Sulfadoxine-resistant parasites cause considerable human hardship in regions where this drug is widely used as an over-the-counter malaria remedy. As is common with pathogens that multiply to large numbers within an infection cycle, P. falciparum evolves relatively rapidly (over a decade or so) in response to the selective pressure of commonly used anti-malarial drugs. For this reason, scientists must constantly work to develop new drugs or drug combinations to combat the worldwide malaria burden. 1

X-Linked Traits

In humans, as well as in many other animals and some plants, the sex of the individual is determined by sex chromosomes. The sex chromosomes are one pair of non-homologous chromosomes. Until now, we have only considered inheritance patterns among non-sex chromosomes, or autosomes . In addition to 22 homologous pairs of autosomes, human females have a homologous pair of X chromosomes, whereas human males have an XY chromosome pair. Although the Y chromosome contains a small region of similarity to the X chromosome so that they can pair during meiosis, the Y chromosome is much shorter and contains many fewer genes. When a gene being examined is present on the X chromosome, but not on the Y chromosome, it is said to be X-linked .

Eye color in Drosophila was one of the first X-linked traits to be identified. Thomas Hunt Morgan mapped this trait to the X chromosome in 1910. Like humans, Drosophila males have an XY chromosome pair, and females are XX. In flies, the wild-type eye color is red (X W ) and it is dominant to white eye color (X w ) ((Figure)). Because of the location of the eye-color gene, reciprocal crosses do not produce the same offspring ratios. Males are said to be hemizygous , because they have only one allele for any X-linked characteristic. Hemizygosity makes the descriptions of dominance and recessiveness irrelevant for XY males. Drosophila males lack a second allele copy on the Y chromosome that is, their genotype can only be X W Y or X w Y. In contrast, females have two allele copies of this gene and can be X W X W , X W X w , or X w X w .


In an X-linked cross, the genotypes of F1 and F2 offspring depend on whether the recessive trait was expressed by the male or the female in the P1 generation. With regard to Drosophila eye color, when the P1 male expresses the white-eye phenotype and the female is homozygous red-eyed, all members of the F1 generation exhibit red eyes ((Figure)). The F1 females are heterozygous (X W X w ), and the males are all X W Y, having received their X chromosome from the homozygous dominant P1 female and their Y chromosome from the P1 male. A subsequent cross between the X W X w female and the X W Y male would produce only red-eyed females (with X W X W or X W X w genotypes) and both red- and white-eyed males (with X W Y or X w Y genotypes). Now, consider a cross between a homozygous white-eyed female and a male with red eyes. The F1 generation would exhibit only heterozygous red-eyed females (X W X w ) and only white-eyed males (X w Y). Half of the F2 females would be red-eyed (X W X w ) and half would be white-eyed (X w X w ). Similarly, half of the F2 males would be red-eyed (X W Y) and half would be white-eyed (X w Y).


What ratio of offspring would result from a cross between a white-eyed male and a female that is heterozygous for red eye color?

Discoveries in fruit fly genetics can be applied to human genetics. When a female parent is homozygous for a recessive X-linked trait, she will pass the trait on to 100 percent of her offspring. Her male offspring are, therefore, destined to express the trait, as they will inherit their father’s Y chromosome. In humans, the alleles for certain conditions (some forms of color blindness, hemophilia, and muscular dystrophy) are X-linked. Females who are heterozygous for these diseases are said to be carriers and may not exhibit any phenotypic effects. These females will pass the disease to half of their sons and will pass carrier status to half of their daughters therefore, recessive X-linked traits appear more frequently in males than females.

In some groups of organisms with sex chromosomes, the sex with the non-homologous sex chromosomes is the female rather than the male. This is the case for all birds. In this case, sex-linked traits will be more likely to appear in the female, in which they are hemizygous.

Human Sex-linked Disorders

Sex-linkage studies in Morgan’s laboratory provided the fundamentals for understanding X-linked recessive disorders in humans, which include red-green color blindness, and Types A and B hemophilia. Because human males need to inherit only one recessive mutant X allele to be affected, X-linked disorders are disproportionately observed in males. Females must inherit recessive X-linked alleles from both of their parents in order to express the trait. When they inherit one recessive X-linked mutant allele and one dominant X-linked wild-type allele, they are carriers of the trait and are typically unaffected. Carrier females can manifest mild forms of the trait due to the inactivation of the dominant allele located on one of the X chromosomes. However, female carriers can contribute the trait to their sons, resulting in the son exhibiting the trait, or they can contribute the recessive allele to their daughters, resulting in the daughters being carriers of the trait ((Figure)). Although some Y-linked recessive disorders exist, typically they are associated with infertility in males and are therefore not transmitted to subsequent generations.


Watch this video to learn more about sex-linked traits.

Lethality

A large proportion of genes in an individual’s genome are essential for survival. Occasionally, a nonfunctional allele for an essential gene can arise by mutation and be transmitted in a population as long as individuals with this allele also have a wild-type, functional copy. The wild-type allele functions at a capacity sufficient to sustain life and is therefore considered to be dominant over the nonfunctional allele. However, consider two heterozygous parents that have a genotype of wild-type/nonfunctional mutant for a hypothetical essential gene. In one quarter of their offspring, we would expect to observe individuals that are homozygous recessive for the nonfunctional allele. Because the gene is essential, these individuals might fail to develop past fertilization, die in utero, or die later in life, depending on what life stage requires this gene. An inheritance pattern in which an allele is only lethal in the homozygous form and in which the heterozygote may be normal or have some altered nonlethal phenotype is referred to as recessive lethal .

For crosses between heterozygous individuals with a recessive lethal allele that causes death before birth when homozygous, only wild-type homozygotes and heterozygotes would be observed. The genotypic ratio would therefore be 2:1. In other instances, the recessive lethal allele might also exhibit a dominant (but not lethal) phenotype in the heterozygote. For instance, the recessive lethal Curly allele in Drosophila affects wing shape in the heterozygote form but is lethal in the homozygote.

A single copy of the wild-type allele is not always sufficient for normal functioning or even survival. The dominant lethal inheritance pattern is one in which an allele is lethal both in the homozygote and the heterozygote this allele can only be transmitted if the lethality phenotype occurs after reproductive age. Individuals with mutations that result in dominant lethal alleles fail to survive even in the heterozygote form. Dominant lethal alleles are very rare because, as you might expect, the allele only lasts one generation and is not transmitted. However, just as the recessive lethal allele might not immediately manifest the phenotype of death, dominant lethal alleles also might not be expressed until adulthood. Once the individual reaches reproductive age, the allele may be unknowingly passed on, resulting in a delayed death in both generations. An example of this in humans is Huntington’s disease, in which the nervous system gradually wastes away ((Figure)). People who are heterozygous for the dominant Huntington allele (Hh) will inevitably develop the fatal disease. However, the onset of Huntington’s disease may not occur until age 40, at which point the afflicted persons may have already passed the allele to 50 percent of their offspring.


Section Summary

When true-breeding or homozygous individuals that differ for a certain trait are crossed, all of the offspring will be heterozygotes for that trait. If the traits are inherited as dominant and recessive, the F1 offspring will all exhibit the same phenotype as the parent homozygous for the dominant trait. If these heterozygous offspring are self-crossed, the resulting F2 offspring will be equally likely to inherit gametes carrying the dominant or recessive trait, giving rise to offspring of which one quarter are homozygous dominant, half are heterozygous, and one quarter are homozygous recessive. Because homozygous dominant and heterozygous individuals are phenotypically identical, the observed traits in the F2 offspring will exhibit a ratio of three dominant to one recessive.

Alleles do not always behave in dominant and recessive patterns. Incomplete dominance describes situations in which the heterozygote exhibits a phenotype that is intermediate between the homozygous phenotypes. Codominance describes the simultaneous expression of both of the alleles in the heterozygote. Although diploid organisms can only have two alleles for any given gene, it is common for more than two alleles of a gene to exist in a population. In humans, as in many animals and some plants, females have two X chromosomes and males have one X and one Y chromosome. Genes that are present on the X but not the Y chromosome are said to be X-linked, such that males only inherit one allele for the gene, and females inherit two. Finally, some alleles can be lethal. Recessive lethal alleles are only lethal in homozygotes, but dominant lethal alleles are fatal in heterozygotes as well.

Visual Connection Questions

(Figure) In pea plants, round peas (R) are dominant to wrinkled peas (r). You do a test cross between a pea plant with wrinkled peas (genotype rr) and a plant of unknown genotype that has round peas. You end up with three plants, all which have round peas. From this data, can you tell if the round pea parent plant is homozygous dominant or heterozygous? If the round pea parent plant is heterozygous, what is the probability that a random sample of 3 progeny peas will all be round?

(Figure) You cannot be sure if the plant is homozygous or heterozygous as the data set is too small: by random chance, all three plants might have acquired only the dominant gene even if the recessive one is present. If the round pea parent is heterozygous, there is a one-eighth probability that a random sample of three progeny peas will all be round.

(Figure) What are the genotypes of the individuals labeled 1, 2, and 3?

(Figure) Individual 1 has the genotype aa. Individual 2 has the genotype Aa. Individual 3 has the genotype Aa.

(Figure) What ratio of offspring would result from a cross between a white-eyed male and a female that is heterozygous for red eye color?

(Figure) Half of the female offspring would be heterozygous (X W X w ) with red eyes, and half would be homozygous recessive (X w X w ) with white eyes. Half of the male offspring would be hemizygous dominant (X W Y) withe red yes, and half would be hemizygous recessive (X w Y) with white eyes.

Review Questions

The observable traits expressed by an organism are described as its ________.

A recessive trait will be observed in individuals that are ________ for that trait.

If black and white true-breeding mice are mated and the result is all gray offspring, what inheritance pattern would this be indicative of?

The ABO blood groups in humans are expressed as the I A , I B , and i alleles. The I A allele encodes the A blood group antigen, I B encodes B, and i encodes O. Both A and B are dominant to O. If a heterozygous blood type A parent (I A i) and a heterozygous blood type B parent (I B i) mate, one quarter of their offspring will have AB blood type (I A I B ) in which both antigens are expressed equally. Therefore, ABO blood groups are an example of:

  1. multiple alleles and incomplete dominance
  2. codominance and incomplete dominance
  3. incomplete dominance only
  4. multiple alleles and codominance

In a mating between two individuals that are heterozygous for a recessive lethal allele that is expressed in utero, what genotypic ratio (homozygous dominant:heterozygous:homozygous recessive) would you expect to observe in the offspring?

If the allele encoding polydactyly (six fingers) is dominant why do most people have five fingers?

  1. Genetic elements suppress the polydactyl gene.
  2. Polydactyly is embryonic lethal.
  3. The sixth finger is removed at birth.
  4. The polydactyl allele is very rare in the human population.

A farmer raises black and white chickens. To his surprise, when the first generation of eggs hatch all the chickens are black with white speckles throughout their feathers. What should the farmer expect when the eggs laid after interbreeding the speckled chickens hatch?

  1. All the offspring will be speckled.
  2. 75% of the offspring will be speckled, and 25% will be black.
  3. 50% of the offspring will be speckled, 25% will be black, and 25% will be white.
  4. 50% of the offspring will be black and 50% of the offspring will be white.

Critical Thinking Questions

The gene for flower position in pea plants exists as axial or terminal alleles. Given that axial is dominant to terminal, list all of the possible F1 and F2 genotypes and phenotypes from a cross involving parents that are homozygous for each trait. Express genotypes with conventional genetic abbreviations.

Because axial is dominant, the gene would be designated as A. F1 would be all heterozygous Aa with axial phenotype. F2 would have possible genotypes of AA, Aa, and aa these would correspond to axial, axial, and terminal phenotypes, respectively.

Use a Punnett square to predict the offspring in a cross between a dwarf pea plant (homozygous recessive) and a tall pea plant (heterozygous). What is the phenotypic ratio of the offspring?

The Punnett square would be 2 × 2 and will have T and T along the top, and T and t along the left side. Clockwise from the top left, the genotypes listed within the boxes will be Tt, Tt, tt, and tt. The phenotypic ratio will be 1 tall:1 dwarf.

Can a human male be a carrier of red-green color blindness?

No, males can only express color blindness. They cannot carry it because an individual needs two X chromosomes to be a carrier.

Why is it more efficient to perform a test cross with a homozygous recessive donor than a homozygous dominant donor? How could the same information still be found with a homozygous dominant donor?

Using a homozygous recessive donor is more efficient because the genotype of the unknown parent can be determined in a single generation. If a homozygous dominant donor was used, the unknown genotype could still be determined. Instead of knowing the unknown genotype through the F1 phenotype, the F1 offspring would have to be self-crossed (as Mendel allowed his pea plants to self-pollinate) and the F2 generation phenotypes would be used to determine the unknown F0 genotype.

Footnotes

    Sumiti Vinayak, et al., “Origin and Evolution of Sulfadoxine Resistant Plasmodium falciparum,” Public Library of Science Pathogens 6, no. 3 (2010): e1000830, doi:10.1371/journal.ppat.1000830.

Glossary


Human blood type is an example of a multi-allele trait. The three alleles for blood group in the human population are called A, B and O. Each person has two of these alleles, for example AA, AO or AB. Blood types A and B are codominant, if you get an A and a B, your blood type is AB, because both antigen proteins are expressed. Type O is recessive to both A and B, so a person only has type O blood if they have two O alleles. A person with type A blood could have the genotype AO or AA and a person with type B blood could have the genotype BO or BB.

Brown hair color in humans is another example of a multi-allele trait, although human hair color is also a polygenic trait. You have probably noticed that the shades of hair are almost limitless, from palest blond to deep mahogany. The alleles for hair color are arranged in an allelic series the alleles are not dominant over each other, per se, but some are expressed more strongly than others, the enzymes they produce are more active. The alleles that code for darker shades have more activity than the lighter shades. If you have a light blond allele and a medium brown allele, both will be expressed, but the light blond will add very little activity to the medium brown.



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