MENDELIAN GENETICS

Mayukh Banerjee

In most of the somatic cells of all diploid organisms, two haploid set of chromosomes are present. Each chromosome of a matching pair are called ³homologues´. Homologous chromosomes are similar in that they consist of alleles of same genes on identical positions or loci. However, the homologues are not identical, because the alleles of a gene may vary (i.e. same gene, different version). When identical alleles are present on each of the two homologous chromosomes, then the individual is said to be Homozygous with respect to the particular trait controlled by that particular allele. When different alleles are present on each of the two homologous chromosomes, then the individual is said to be Heterozygous with respect to the particular trait controlled by that particular allele. If two different alleles of a gene are present in a cell, the phenotype of only one will be expressed, while the other will be suppressed.

Dominance refers to the non-linear relationship between different forms (alleles) of a gene and the resultant phenotype. The key concept of dominance is that the heterozygote phenotypically identical to one of the two homozygotes. is

The homozygous trait seen also in the heterozygous individual is called the µdominant¶ trait. Recessive refers to an allele that does not produce a characteristic effect when present with a dominant allele. Alternatively, it a trait that is expressed only when the determining allele is present in the homozygous condition. Ex: The gene controlling sees shape in Pea (Pisum sativum) has two alleles; one codes for round seeds (R), the other for wrinkled seeds (r). The seeds are round when homozygous for R (i.e. RR), while they are wrinkled if homozygous for r (i.e. rr). The heterozygotes (i,.e. Rr) are round. Thus, the allele for round seeds (R) is dominant over the allele for wrinkled seeds (r), which happens to be the recessive allele.

Homologous Chromosomes Allele for Round Seed (R) Allele for Wrinkled Seed (r) Homologous for Round Seed (RR) Homologous for Wrinkled Seed (rr) Heterozygous (Rr) .

01:1 3. F2 progenies had a mixed population of individuals in the ratio of ~ 3:1.Mendel·s First Law (Law of Segregation) Mendel¶s Experiments Parental Cross Round x Wrinkled Seed Yellow x Green Seeds Red x White Flowers Tall x Dwarf Plants F1Phenotype Round Yellow Red Tall F2 Phenotypic Ratio 5474 Round: 1850 Wrinkled 6022 Yellow: 2001 Green 705 Red:224 White l787 Tall:227 Dwarf F2Ratio 2. 2.96:1 3.84:1 Mendel¶s Observations: 1. All F1 progenies always exhibit one particular trait. .15:1 2.

Mendel¶s Explanations .

. ‡ ‡ allele pairs separate or segregate during gamete formation. One of these determinants must be dominant (i. will nor express its character if present in combination with the dominant determinant). and randomly unite at fertilization. the other must be recessive (i. Each parent has one pair of these particulate determinants in each somatic cell for each trait studied. thus each gamete only carries one member of the determinant pair.Mendel¶s Conclusions ‡ ‡ The hereditary determinants are of a particulate nature.. One member of the pair segregates into a gamete. will exhibit its character in spite of the presence of the other determinant). whereas.e. Gametes unite at random creating new random combinations of these determinants.e. . The F1 from a cross of two pure lines contains one allele for the dominant phenotype and one for the recessive phenotype.

The cross of any individual to a homozygous recessive parent. used to determine if the individual is homozygous dominant or heterozygous.Backcross . for pea plant height the cross would be Tt x TT or Tt x tt. though a backcross is a cross to a fully recessive parent.The cross of an F1 hybrid to one of the homozygous parents. . most often. Testcross .

Ex: ABO blood group system. the resulting offspring are pink. .Exceptions to Law of Segregation Any phenomenon in which two alleles of a gene does not express a typical dominant-recessive relationship will lead to a deviation from the law of segregation. Incomplete Dominance: Incomplete dominance is a form of inheritance in which one allele for a specific trait is not completely dominant over the other allele. Codominance: A condition in which the alleles of a gene pair in a heterozygote are fully expressed thereby resulting in offspring with a phenotype that is neither dominant nor recessive. 2. The dominant allele that produces the red color is not completely expressed over the recessive allele that produces the white color. Ex: In cross-pollination experiments between red and white snapdragon plants. A person having A allele and B allele will have a blood type AB because both the A and B alleles are codominant with each other. This results in an intermediate phenotype. 1.

if A and B alleles in Blood grouping system were in incomplete dominance and the alleles for red and pink petals were codominant? .In both codominance and incomplete dominance both alleles are expressed. That is. both alleles are equally expressed in heterozygote. In incomplete dominance. the phenotype resembles a sort of blending of the two alleles. Co-dominance is when both alleles are expressed separately. what would be the observation. a cross between an allele for red petals and allele for white petals. So. How they're expressed is different. so an individual gets the AB blood type. Human blood type is a good example of this. both the alleles are expressed but unequally leading to different degrees of intermediate phenotype. whereas. The A and B alleles are both expressed. in incomplete dominance. In codominance. result in pink petals.

Flower would have had white and red splotches . .Individuals would neither have A blood group nor B blood group. but something intermediate to both.

distorters can spread through-out populations and eventually become fixed without providing any advantage in fitness to their carriers. When located on a sex chromosome and expressed in the heterogametic sex. This phenomenon in general is also called meiotic drive. A segregation distortion gene produces a distortion in normal segregation in favor of itself. Because of their advantage in segregation. so that chromosomes bearing this gene are over-represented in an organism's offspring.Segregation distorters Segregation distorters are chromosomal factors that promote their inheritance by preventing the production of functional gametes carrying their allelic alternative in heterozygous individuals. They thus represent an example of non-adaptive selection. segregation distorters induce a sex-ratio bias in the progeny. .

The system could work as follows: Two tightly linked loci mainly control the process: ‡ a recognition locus ‡ a distortion locus. it prevents the chromosome from entering sperm. . If it binds to any other recognition sequence. and the distorter allele produces a protein that binds to the recognition locus. The recognition locus has a particular recognition sequence. Ex: The segregation distorter gene was first found in fruitfly (Drosophila) stocks from Wisconsin and Baja California. More than 90% of offspring from male heterozygotes have the segregation distorter gene because the sperm containing other genes fail to develop. there is no effect. If it is a 'distorter' recognition sequence. This produces a distortion in favor of chromosomes containing the segregation distortion gene.

His aim was to determine if any relationship/interaction existed between different allelic pairs. Yellow. Round. Round. Wrinkled. Green. Round Seed x Green. Wrinkled Seed F1Phenotype Yellow. Green. Mendel¶s Experiments Parental Cross Yellow. Wrinkled F2Ratio 9:3:3:1 .Mendel·s second Law (Law of independent assortment) Mendel also performed crosses in which he followed the segregation of two genes simultaneously. Round F2 Phenotypic Ratio Yellow.

Wrinkled = w . Green = g Seed Shape: Round = W.Mendel¶s Explanations Seed Color: Yellow = G.

wrinkled green: ggww = 1 . round) GGWw (Yellow. round) gw GgWw (Yellow.Female Gametes GW GW GGWW (Yellow. round) ggWw (Green. round) Ggww (Yellow. round) ggWW (Green. Round green: ggW_ = 3. wrinkled) ggWw (Green. round) GgWw (Yellow. round) GgWw (Yellow. wrinkled Gw gW Male Gametes gw Round Yellow: G_W_ = 9. round) Gw GGWw (Yellow. ggww (Green. round) GGww (Yellow. wrinkled) gW GgWW (Yellow. wrinkled) GgWw (Yellow. wrinkled Yellow: G_ww = 3. round) Ggww (Yellow. round) GgWW (Yellow.

Mendel¶s Conclusions during gamete formation the segregation of the alleles of one allelic pair is independent of the segregation of the alleles of another allelic pair .

they appear to be blood group O because they lack the H antigen. At locus A. Ex: Bombay phenotype. an interaction in which one gene suppresses the expression of another. Another well-known example is coat color in mice. involving the ABO blood group system. color is dominant over albino (lack of pigment). Even though such individuals may have A or B genes. at one or more genes at other positions. epistasis is the masking of the expression of a gene at one position in a chromosome. Two coatcolor loci are involved. At locus B.epistasis Epistasis: An interaction between nonallelic genes. or locus. A mouse that is homozygous for the albino gene will show no pigment regardless of its genotype at the other locus. . Thus. Thus the A and B loci are epistatic. Individuals with this phenotype lack a protein called the H antigen (geno-type hh). the coat color agouti is dominant over black. which is used to form A and B antigens.

. epistasis involves the interaction of genes at different loci. what is the difference between dominance and epistasis? Dominance involves the interaction of genes at the same locus.So. whereas.

. Therefore.modifiers Modifier: Genes that have small quantitative effects on the level of expression of another gene. coat color is controlled by the B gene. the following phenotypic distribution will be seen: 9 B_D_ (black) 3 B_dd (dilute black) 3 bbD_ (brown) 1 bbdd (dilute brown) The D gene does not mask the effect of the B gene. either black or brown is controlled by another gene. a gene can modify the expression of a second gene. Instead of masking the effects of another gene. The intensity of the color. the D gene. The B allele conditions black coat color and is dominant to the b allele that produces a brown coat. At this gene. if a cross is made among mice that are BdDd. Ex: In mice. the dominant D allele controls full color whereas the recessive d allele conditions a dilute or faded expression of the color expression at the B gene. rather it modifies its expression.

For example. with the two functional alleles contributing 50% each. the single functional allele makes sufficient protein to produce a phenotype identical to that of the homozygote: this is called haplosufficiency. In the typical case. and the individual has standard pigmentation.Molecular basis of dominance 1. suppose the standard amount of enzyme produced in the functional homozygote is 100%. . the functional allele is dominant to the non-functional allele. which is sufficient to produce the standard phenotype. The single functional allele in the heterozygote produces 50% of the standard amount of enzyme. Ex: This occurs at the albino gene locus: the heterozygote produces sufficient enzyme to convert the pigment precursor to melanin. If the heterozygote and the functional-allele homozygote have identical phenotypes.

pulmonary fibrosis and an increased predisposition to cancer. So. A mutation in motif D of the reverse transcriptase domain of the telomerase protein.2. Ex: Huntington¶s Disease. and the phenotype resembles that of the homozygote for the nonfunctional allele. This leads to dominance of the mutant genotype. leads to this phenotype. . Alternatively. Ex: Haploinsufficiency of telomerase reverse transcriptase which leads to autosomal dominant dyskeratosis congenita. the hererozygote resembles closely the phenotype of the homozygous for the mutant allele. Thus telomerase dosage is important for maintaining tissue proliferation. hTERT. It is a rare inherited disorder characterized by abnormal skin manifestations. a single functional allele in the heterozygote may produce insufficient gene product for proper function. Dominance of the mutant allele may also happen if its gene product interferes with the functioning of the gene product of the normal allele. which results in bone marrow failure. This is called haploinsufficiency.

Because the disease phenotype of HbA/HbS heterozygotes is more similar to but not identical to the HbA/HbA homozygote.3. Persons heterozygous HbA/HbS for this allele have a much less severe form of anemia called sickle-cell trait. The intermediate interaction occurs where the heterozygous genotype produces a phenotype intermediate between the two homozygotes. Many people are homozygous for an allele called HbA. the HbA allele is said to be incompletely dominant to the HbS allele. life-threatening form of anemia called sickle-cell anemia. one allele is said to show incomplete dominance over the other. Depending on which of the two homozygotes the heterozygote most resembles. and causes a severe. . some persons carry an alternative allele called HbS. The hemoglobin molecules of HbS/HbS homozygotes undergo a change in shape that distorts the morphology of the red blood cells. either as homozygotes or heterozygotes. Ex: In humans the Hb gene locus is responsible for the F chain protein (HBB) that is one of the two globin proteins that make up the blood pigment hemoglobin.

In medical genetics. Ex: Achondroplasia is caused by a fully penetrant allele. if the allele is present. 2. 4. In cases of low penetrance. Ex: Polydactyly in human (<70% penetrant). with which a specific genotype is expressed by those individuals that possess it.Incomplete Penetrance or Reduced penetrance: Some individuals fail to express the trait. Ex: Several low-penetrance genes contribute to cancer risk (penetrance may be as low as 2-5%). achondroplasia results. 3. Ex: Achondroplasia.Complete penetrance: All individuals who have the diseasecausing mutation have clinical symptoms of the disease. Ex: Retinoblatoma (90% penetrant). even though they carry the allele.Penetrance: The frequency.Low penetrance: An allele with low penetrance will only sometimes produce the symptom or trait with which it has been associated at a detectable level. the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms. .Highly penetrant: The trait it produces will almost always be apparent in an individual carrying the allele. under given environmental conditions. it is difficult to distinguish environmental from genetic factors. 1.

Also called a genetic compound. with less severe symptoms. In its compound heterozygous forms. when both alleles of a gene harbor mutations. . A mutation affecting only one allele is called heterozygous. these mutations are called compound heterozygous. but the mutations are different. compound heterozygotes often become ill later in life. Compound heterozygosity reflects the diversity of the mutation base for many genetic disorders. However.Compound heterozygosity The human genome contains two copies of each gene. Because the mutations involved are often less deleterious in combination than would be the case for a homozygous individual with the classic symptoms of the disease. the disease may have lower penetrance. A homozygous mutation is the presence of the identical mutation on both alleles of a specific gene. a paternal and a maternal allele.

However. with some individuals experiencing much more severe symptoms than others. It refers to variations of a phenotype in individuals carrying a particular genotype. These mutations can cause the Schwann cells in an affected individual's nervous system to grow into tumors called neurofibromas. Family members who carry the same mutated gene can exhibit a range of symptoms. . which appear as colored spots or bumps under the skin. These tumors can result in skeletal abnormalities and neurological problems. although they all carry the same allele.Expressivity: The relative degree to which a trait caused by a gene is manifested in an individual. not all people who have the mutated neurofibromin gene are equally affected by this condition. Ex: Neurofibromatosis is a disease caused by mutations in the neurofibromin gene.

It is not possible to measure the degree of expression if a genotype is not expressed as a phenotype. whereas. . if the genotype does not penetrate to the phenotype. and expressivity refers to the degree to which a phenotype is expressed when it is expressed. that is. ‡ Penetrance is measured at the population expressivity is measured at individual level. ‡ Note that expressivity is dependent on penetrance.Relationship between penetrance and expressivity ‡ Penetrance is a qualitative quantitative concept. concept and expressivity is a ‡ Penetrance refers to whether a phenotype is expressed for a particular genotype. level.

A few problems .

A. B. all of the _________ plants. parental. A phenotypic ratio of 3:1 in the offspring of a mating of two organisms heterozygous for a single trait is expected when: A. 2. P2 . and 3/4 of the __________ plants had tall stems. parental. F2. F2. tall stems are dominant. B. E. only recessive traits are scored. Therefore. the alleles are identical. the alleles segregate during meiosis. E. C. When true-breeding tall stem pea plants are crossed with true-breeding short stem pea plants. the alleles are incompletely dominant. G2. C. G1. P1. each allele contains two mutations. F1.1. D. F2. D.

E. B. C. What are the possible blood types of the offspring of a cross between individuals that are type AB and type O? A. B. 1/2 short. 1/4 would be tall. 4. 1/4 would be tall. All the offspring would be intermediate. or O E. AB. 1/4 short. or AB .3. A. In Mendel's experiments. 1/2 intermediate height. D. if the gene for tall (T) plants was incompletely dominant over the gene for short (t) plants. what would be the result of crossing two Tt plants? A. A. 1/2 would be tall. or O C. AB or O B. A. A or B D. All the offspring would be tall. B. 1/4 short B. 1/4 intermediate height. 1/4 intermediate height.

what would be the phenotypes resulting from crossing a spherical-seeded. the spherical seed character (SS) is completely dominant over the dented seed character (ss). D. If the characters for height were incompletely dominant. E. Does these results follow Mendel¶s first law? 6. Tt are intermediate and tt are short. You cannot predict the outcome.5. short (SStt) plant to a dented-seeded. Grey mice were crossed between themselves and in the F1 generation 103 black mice and 197 grey mice were obtained. All the progeny would be spherical-seeded and short. 1/2 would be spherical-seeded and tall. C. In Mendel's experiments. tall (ssTT) plant? A. All the progeny would be spherical-seeded and tall. such that TT are tall. All the progeny would be spherical-seeded and intermediate height. 1/2 would be spherical-seeded and intermediate height. . B.

About 70% of Indians perceive a bitter taste from the chemical phenylthiocarbamide (PTC). She marries a homozygous. Albinism is also a single locus trait with normal pigment being dominant (A) and the lack of pigment being recessive (a). normally pigmented man who is a taster but who has a mother that does not taste PTC. ‡ What are the genotypes of the possible children (choose all that apply)? ‡ What percentage of the children will be albinos? ‡ What percentage of the children will be non-tasters of PTC? . The ability to taste this chemical results from a dominant allele (T) and not being able to taste PTC is the result of having two recessive alleles (t).7. A normally pigmented woman who cannot taste PTC has a father who is an albino taster.

slow bobbing and yellow throats. Assume also.8. male Anole lizards court females by bobbing their heads up and down while displaying a colorful throat patch. ‡ How many of the F1 offspring have the preferred fast bobbing or red throat phenotype (assume 16 young)? ‡ What percentage of the offspring will lack mates because they have both slow head bobbing and yellow throats? ‡ What percentage of the offspring will have trouble finding mates because they lack one of the dominant traits? . In the breeding season. that both traits are controlled by single locus genes on separate chromosomes. suppose that anoles prefer to mate with lizards who bob their heads fast (F) and have red throat patches (R) and that these two alleles are dominant to their counterparts. Assume for this question that both males and females bob their heads and have throat patches. A male lizard heterozygous for head bobbing and homozygous dominant for the red throat patch mates with a female that is also heterozygous for head bobbing but is homozygous recessive for yellow throat patches. Now.

and purple. a homozygous (bb) individual is red. A homozygous (BB) individual is blue. red. ‡ What would be the genotypes and phenotypes of the offspring if a blue wildcat were crossed with a red one? ‡ What are the genotypic and phenotypic ratios of the F2 generation? . blue.9. This trait is controlled by a single locus gene with incomplete dominance. and a heterozygous (Bb) individual is purple. Wildcat comes in three colors.

. c and P. C&P. Absence of either results in white flowers. In sweet peas. What is the genotype of the dihybrid plant? b. Assume that this difference in beak morphology is the result of incomplete dominance in a single locus gene. A naturalist visiting an island in the middle of a large lake observes a species of small bird with three distinct types of beaks. Which mated pair(s) will have the best adapted offspring in a year in which most of the food available is scarce due to drought? 11. a. p are known to effect pigment formation in the flowers. colored or white. A dihybrid plant is crossed to a white one which is heterozygous at the ³C´ locus. The dominants. What is the genotype of the white plant? c. consume both types of seeds though they are not as good at either. those with long. are to be expected from the cross above? Include the ratio. Those with short.10. the two allelic pairs C. What kinds of flowers. are both necessary for colored flowers. delicate beaks (bb) pick the seeds from pine cones. crushing beaks (BB) consume hard shelled nuts. and those with intermediate beaks (Bb).

When F1 plants were crossed among themselves. Two pairs of alleles are involved in cyanide production in white clover. the F1 all had high cyanide content. When high Strain A was crossed to low Strain B. . the following resulted: High cyanide content: 450 plants Low cyanide content: 350 plants Offer an explanation for these results. others a low one.12. Some strains have high cyanide content.

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