STEP in BIOLOGY

Chapter # 22 Variation and Genetics

Topic

Genetics:
 Branch of biology which deals with the study of transfer of characteristics from one generation to another
generation is called genetics.

Inheritance:
 Transfer of characteristics form one generation to another generation is called inheritance.

Gene:
 A specific sequence of nucleotides on DNA molecules which controls a specific trait is called gene.
 Gene is the basic unit of biological information.
 In fact DNA stores all sorts of biological information coded in the sequence of its bases in a linear order.
 Genes are actually parts of DNA comprising its base sequences.

Functions:

 Genes are responsible for producing startling inherited resemblances as well as distinctive variations among
generations.
 When these pass in the form of intact parental combination between generations, inherited similarities are
conserved.
 When these genes shuffle, mutate or juggle with each other, variations emerge.

Genes in Pair:

 Genes form pairs on pairs of homologous chromosomes.

 One member of a gene pair is located on one homologue, and the other member on the other homologue.

Allele:
 Partners of a gene pair on each homologous pair of chromosome are called allele.
 Each allele of a gene pair occupies the same gene locus on its respective homologue.
 Both alleles on one locus may be identical, or different from each other.

Fig: Allelic pairs on a homologous pair of chromosomes

Locus:
 The position of a gene on the chromosome is called its locus.

Trait:
 A trait is a specific feature of a living organism which distinguishes one living organism from other living
organism is called a trait.

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 Each trait is controlled by a gene which is present in pair form at each homologous pair of chromosome.
 A flower may be red or white in color. Flower color is a trait

Phenotype:
 Phenotype is the form of appearance of a trait.
 Physical expression of a gene is called phenotype.
 For example, aflower may be red or white in color. Flower color is a trait and red and white are its two
phenotypes.

Genotype:
 Genotype is the genetic complement of the genes in an individual for a particular trait.

For example:

 Each form of expression is determined by a different allele of the color gene.

 Allele “R” is the determiner for redness, while “r” is the determiner for whiteness.

Differentiate between phenotype and genotype:

Sr# Phenotype Genotype

1 Phenotype is the physical compliment of Genotype is genetic compliment of a phenotype.
a trait.
2 It is physical appearance of a gene. Genes and alleles are counted for a trait.
3 Phenotypic ratio for Mendelian trait will Genotypic ratio will be 1:2:1.
be 3:1.
Differentiate between gene and allele:

Sr# Gene Allele

1 Part of DNA which controls a specific trait Alternative form of gene is called allele.
is called gene.
2 Gene is integral part of DNA. Alleles are different forms of a single gene.
3 Genes control a specific trait. Alleles control different forms of a trait.

GENE POOL
 All the genes/alleles found in a breeding population at a given time are collectively called the gene pool.
 Any group of interbreeding organisms of the same species that exist together in both time and space having
total number of alleles is called gene pool.
 It is the total genetic information encoded in the total genes in a breeding population existing at a given
time.

Beanbag Genetics:

 If we imagine population not as a group of individuals, but as a group of individually segregating and
randomly assorting alleles, we can understand the concept of “beanbag genetics”.
 The alleles are like beans in a beanbag.
 The entire beanbag full of beans is the gene pool of the population.
 In the beanbag approach we can imagine the entire gene pool comprising all the alleles for all the different
traits at once, or we can just focus on some subset, such as all the alleles for a single trait.

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Jumping Genes:
 Jumping genes do not settle peacefully on their loci.
 They keep on hopping on different loci on the same chromosome or other chromosomes.
 It is also called transposons.

Differentiate between population and gene pool:

Sr# Population Gene Pool

1 Group of members of same species living Sum of all the genes with their alleles in a
in same place at same time is called population is called gene pool.
population.
2 It is sum of individuals. It is total genetic information encoded by total
genes in a breeding population.

MENDEL’S LAWS OF INHERITANCE

 Gregor Johann Mendel (1822 - 1884) laid the foundation of classical genetics by formulating two laws of
heredity; law of segregation and law of independent assortment.
 He was a priest.
 He performed series of breeding experiments on garden pea, Pisum sativum in his monastery garden for
eleven years (1854 — 1865).

Reason for Pea Plant Selection:

 Pisum sativum was easy to cultivate and it grew well in his garden.
 Its flowers were hermaphrodite.
 It was normally self-fertilizing, but could also be cross-fertilized.
 As the time gap between generations was short, Mendel could raise many generations of pea within a short
time.
 Pea had many sharply distinct traits.
 Each trait had two clear cut alternative forms or varieties like seed shape had a round or wrinkled
phenotype, plant height was either tall or short, seed color could be yellow or green.
 Mendel called them contrasting pair of a trait.

Seven Contrasting Pair of Traits Focused by Mendel:

Fig: Seven traits of garden pea studied by Mendel.

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Mendel’s Law of Segregation:
 According to law of segregation, the two coexisting alleles for each trait in an individual segregate (separate)
from each other at meiosis, so that each gamete receives only one of the two alleles. Alleles unite again at
random fertilization of gametes when zygote is formed.

Explanation:

 Mendel crossed the true breeding homozygous plant having round seed (RR) with true breeding
homozygous plant with wrinkled seeds (rr).
 Both these parental pants were called as P-1 generation by Mendel.
 In F-1 generation, all plants were with round seeds.
 So, it was proved that round seed color was a dominant trait.
 Then, Mendel made a cross between offspring of F-1 generation by self fertilization.
 This is called mono-hybrid cross.
 In F-2 generation Mendel found round seed plants and wrinkled seed plants in a specific ratio.
 Round seed plants appeared as 75% (3/4) and wrinkled seed plants appeared as 25% (1/4).
 So Mendel got 3:1 as phenotypic ratio while three for round.
 Same phenotypic ratio was found for each trait in F-2 generation.
 When F-3 generation was obtained, 1/3 round seed plants of F-2 were like P-1 round.
 2/3 round seed plants were like F-1 round.
 Wrinkled seed plants produced same wrinkled seed plants which were 1/4 of F-2.

So genotypic ratio obtained were:

Homozygous Round : Heterozygous Round : Homozygous Wrinkled

1 : 2 : 1

Fig: Mendel’s cross to study single trait inheritance in pea.

Test Cross
 The cross which is used to test the genotype of an individual showing a dominant phenotype is called test
cross.
 It is a mating in which an individual showing a dominant phenotype is crossed with an individual showing its
recessive phenotype.
 This cross finds out the homozygous or heterozygous nature of the genotype.

Following two conditions may occur:

Case-1 Case-2
If the seed is homozygous round (RR), it will grow into a If the seed is heterozygous round (Rr), it will grow onto a
pea plant that forms all gametes of only R allele. plant that forms half the gametes with R and half the

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Wrinkled seed plant is always homozygous recessive, so gametes with r allele.
it will form all gametes with r allele. Wrinkled seed plant will form only r types of gametes.
Fertilization will result in 100% round seed progeny. Fertilization will result into 50% round and 50% wrinkled
seed progeny.
Even a single wrinkled seed progeny is a convincing proof
for heterozygous nature of round parent.

Fig: Test cross of round seed plant

Dihybrid and Dihybrid Cross

Mendel’s Law of Independent Assortment:

 When two contrasting pairs of traits are followed in the same cross, their alleles assort independently into
gametes.
 Alleles of one pair inherit independently of alleles of the other pair.
 The distribution of alleles of one trait into gametes has no influence on the distribution of alleles of the other
trait.

Explanation:

 Mendel decided to study the inheritance of two traits simultaneously, like seed shape and seed color.
 Seed shape could be roundor wrinkled.
 Similarly, seed color could be yellow or green.
 He crossed true breedinground and yellow seed plants with true breeding wrinkled and green seed plants.
 All F1dihybrid were round and yellow seeded due to dominance.
 Then he made a dihybridcross by allowing self-fertilization among F1 dihybrids.
 The results were quite surprising.
 Seeds produced as F2 progeny were not only in the two parental combinationsas round yellow and wrinkled
green, but also in two new phenotypic combinationsround green and wrinkled yellow.
 A clear cut 9:3:3:1 phenotypic ratio was foundin F2.
 Appearance of these new recombinant phenotypes of F2 indicated that somesort of shuffling of alleles had
occurred during gamete formation.
 Mendel inferredthe mechanism of this shuffling as independent assortment of alleles into gametes.
 He concluded that the alleles for seed shape and color were not bound to remain inparental combination
forever as R with Y and r with y rather these were free to assort independently.
 R could go with Y or y in any gamete with equal change.

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 Similarly, r could go with y or Y in any gamete with equal probability.
 Four types of gametes, i.e., RY, Ry, rY and ry were formed in equal number in a perfect ratio of 1:1:1:1.
 When these gametes randomly fertilized each other, a 9:3:3:1 phenotypic ratio was produced among F2
progeny.
 The chance for a plant to be round or wrinkled is independent of its chance of being yellow or green.

This trait can be expressed as follows:

Fig: Dihybrid cross produces parental as well as recombinant types.

Homozygous/ Homozygote:
 When both the alleles for a trait in a living organism are same then it is called as homozygous and living
organism is called as homozygote.
 For example, TT or tt is homozygous for height trait.

Heterozygous/Heterozygote:
 When both alleles for a trait in a living organism are different then it is called as heterozygous and living
organism is called as heterozygote.
 For example, Tt is heterozygous for height trait.

True Breeding:
 When a plant produces off springs identical to itself on self fertilization for a trait, then it is called as true
breeding or pure breeding for that trait.
 For example, plants in P-1 generation of Mendelian crosses are all true breeding.

Dominant Allele/Trait:
 Allele or trait which is expressed in hybrid condition is called dominant allele/trait.
 It is fully expressed in hybrid.
 T is dominant over t allele so Tt plant will be tall.

Recessive Allele/Trait:
 Allele or trait which is not expressed in hybrid is called recessive allele/trait.
 Recessive allele/trait is fully masked by dominant in hybrid.
 For example, t is recessive to T so in Tt condition plant will be tall heighted.

Hybrid:
 Plant formed by a cross of genetically different parents is called hybrid.

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 Tt is hybrid for height trait formed by genetically different parents.

Monohybrid Cross:
 Organism formed form parents which are different in one trait is called monohybrid and cross between two
monohybrids is called monohybrid cross.
 For example, cross between Tt and Tt is called monohybrid cross.

Dihybrid Cross:
 Organism formed by parents different in two traits is called dihybrid and cross between two dihybrids is
called dihybrid cross.
 For example, RrYy is dihybrid and cross of two dihybrids will be dihybrid cross.

F-1 Generation:
 Offspring of true breeding parents is called F-1 generation.
 F-1 is for first filial generation.

F-2 generation:
 Offspring obtained by self-fertilization of F-1 hybrids is called F-2 generation.
 F-2 is for 2nd filial generation.

P-1 Generation:
 First parental generation is P-1 generation.

Probability:
 Probability is the chance of an event to occur.
 Inheritance of seed shape is anindependent event.
 In F2 offspring of a monohybrid cross the independent chance for a seed to be round is 3/4 , or it to be
wrinkled is 1/4.
 Inheritance of seed color is another separate event.
 The independent chance in F2 of a monohybrid cross for a seed to be yellow is 3/4 or it to be green is 1/4.

Product Rule:
 When two independent events are occurring simultaneously like in dihybrid cross, the ratio of each joint
phenotypic combination can be obtained by multiplying the probabilities of individual phenotypes.
 It is calledproduct rule.
 The joint probability that both of the independent events will occur simultaneously, is equal to the product
of individual probabilities of each event.

Event No-1 Event No-2 Both events at a time

Seed Shape Seed Color Seed Shape and Color
Independent probability to be: Independent probability to be: Joint probability of being
Round=3/4 Yellow=3/4 Round yellow=3/4X3/4=9/16

Round=3/4 Green=1/4 Round green=3/4X1/4=3/16

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Wrinkled=1/4 Yellow=3/4 Wrinkled yellow=1/4X3/4=3/16

Wrinkled=1/4 Green=1/4 Wrinkled green=1/4X1/4=1/16

Genes and Linkage:

 Genes are located at specific loci on chromosomes.
 Independent assortment of genes depends upon independent assortment of their chromosomes.
 All the genes present on a homologous pair of chromosomes are linked to each other in the form of a linkage
group.
 These cannot assort independently.
 Those traits assort independently whose alleles are riding non homologous chromosomes.

Mendel was Lucky:

 Pea has seven homologous pairs of chromosomes.
 Mendel knew nothing about chromosomes.
 The traits he studied were confined to only four chromosomes.
 He reported independent assortment of those traits whose genes were either on different homologous
chromosomes, or were so far away from each other on the same chromosome that they appeared to assort
independently due to crossing over.

Classical Genetics:
 Mendel presented his findings to Brunn Society for the study of Natural Science in 1865.
 His work was published in the proceedings of the society in 1866.
 That laid the foundation of classical genetics.
 His work lay neglected for 34 years.

Rediscovery of Mendel’s Work:

 In 1900, 16 years after his death, three botanists; Correns, De Varies and Tschermach independently
rediscovered and acknowledged his work.

Activity:
Statement:

 Normal individuals have melanin pigment in their skin, hair and eyes.
 Albinos totally lack pigment in their bodies.
 Albinism is a recessive trait in humans.
 Two normal parents have an albino child.
 What is the probability that their next child will also be an albino?

Answer:

 When two normal parents have albino child, it means that both are heterozygous for albino as Aa.
 So there is 25% probability to their next child in every birth.

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Differentiate between monohybrid and dihybrid:

Sr# Monohybrid Dihybrid

1 Organism which is hybrid in only trait is Organism which is hybrid in two traits is called
called monohybrid. dihybrid.
2 It is formed from parents different in only It is formed from parents different in two traits.
one trait.
3 Cross between two monohybrid is called Cross between two dihybrids is called dihybrid
monohybrid cross. cross.
4 Rr is monohybrid. RrYy is dihybrid.

Differentiate between law of segregation and independent assortment:

Sr# Law of Segregation Law of Independent Assortment

1 According to law of segregation, the two When two contrasting pairs of traits are followed
coexisting alleles for each trait in an in the same cross, their alleles assort
individual segregate (separate) from each independently into gametes.
other at meiosis, so that each gamete
receives only one of the two alleles.
2 Only single trait is considered at single Two traits are considered at same time.
time.
3 Phenotypic ratio at F-2 was 3:1. Phenotypic ratio at F-2 was 9:3:3:1.

Dominance Relations
 Dominance is a physiological effect of an allele over its partner allele on the same gene locus.
 There are four types of dominance relations among alleles, each indicating a different style of their
functional effect upon each other.

Complete Dominance
 When one allele is completely dominant over the other and presence of the recessive allele is functionally
hidden, this type of dominance is called complete dominance.
 When one allele completely dominates over its partner in hybrid condition, then this relation is called
complete dominance relation.
 The contrasting pairs of alleles for all the seven characters chosen by Mendel showed complete dominance.
 For example, in seed surface trait, R is completely dominant over r.
 So the heterozygote (Rr) has the same round phenotype as (RR) homozygote.

Incomplete Dominance
 When the phenotype of the heterozygote is intermediate between phenotypes of the two homozygotes, it is
called incomplete or partial dominance.

Explanation:

 In 1899 Carl Correns was working on a lowering plant named 4 O’clock.

 When he crossed a true breeding red flowered plant with a true breeding white flowered 4 O’clock, all the F-
1 hybrids had pink flowers.
 This new phenotype had a shade intermediate between those of the parents due to an intermediate amount
of pigment in petals.

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 When Correns self-fertilized F-1 pink, the F2 showed all three phenotypes of flowers in the ratio of 1 red : 2
pink : 1 white.
 Red was homozygous for red alleles, and white was homozygous for white alleles.
 But when allele for red and allele for white were present together in the same plant, neither of them masked
the effect of other rather these alleles showed incomplete dominance in the form of pink color.
 As there is no truly dominant allele, the usual capital and small letter distinction for dominant and recessive
trait is not necessary.
 Both the alleles are represented by the same letter ‘R’ but are numbered differently to distinguish white
from red.
 Allele for red is designated as R1, and the allele for white as R2.
 Allele for pink is R1R2.
 Punnett square indicates that the phenotypic ratio is the same as the genotypic ratio.
 There is absolutely no need of a test cross.
 These results do not make Mendel’s principles invalid.
 The flower color does show blending at phenotypic level in F1, which is quite contrary to Mendel’s
observations.
 But the re-appearance of red and white flowers in F2 confirms that blending does not occur at genetic level.

Fig: Incomplete dominance in 4 O’ clock

Co-Dominance
 Co-dominance occurs when both the alleles express independently in heterozygote and form their
respective products.
 Different alleles of a gene that are both expressed in a heterozygous condition are called co-dominant.
 The phenotype of heterozygote is distinct in quality from those of the two homozygotes.
 The co-dominant heterozygote would have both substances at the same time.
 It is not an intermediate quantitative expression like incomplete dominance.
 Each allele of the gene pair is associated with a different substance as follows:

Allele A Produces → Substance X

Allele A12Produces → Substance Y

Example of Co-Dominance:

MN BLOOD TYPE OR BLOOD GROUP SYSTEM

 Human blood groups can be of many types, e.g. ABO, MN, MNSs, Rh etc.

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 Landsteiner and Levine discovered MN blood types in man on the basis of specific antigens present on RBC.
 These RBC antigens induce production of their specific antibodies.
 There are three general phenotypes; M,N and MN.
 M phenotype has antigen M which is produced by gene LM.
 N phenotype has antigen N that is produced by its allele LN.
 MN phenotype has both M and N antigens, simultaneously produced by their alleles LM and LN.

Phenotype Genotype Antigen on RBCs

M LMLM M
N LNLN N
MN LMLN MN

Genetics of MN Blood Group System:

If a man of M blood group marries a woman of N blood group, all their children will have MN blood group as
following:

Fig: Codominance in MN Blood group alleles.

OVER DOMINANCE
 When phenotype of heterozygote exceeds in quantity the phenotypic expression of both the homozygotes,
then this type of dominance is called over dominance.
 This dominance relation is fascinating because the over dominant heterozygote exceeds in quantity the
phenotypic expression of both the homozygotes.

Example:

 In fruit fly Drosophila the heterozygote (w+ / w) has more quantity of fluorescent pigments in eyes than wild
(w+ / w+) or white eye (w / w) homozygotes.

MULTIPLE ALLELES
 All altered alternative forms of a gene, whose number is more than two, are called multiple alleles.
 Genes having more than two alleles is called multiple alleles.
 Gene mutations may produce many different alleles of a gene.
 Some genes may have as many as 300 alleles.
 Any two of these multiple alleles can be present in the genome of a diploid organism, but a haploid organism
or a gamete can have just one of them in its genome.

ABO - The First Discovered Multiple Allelic Blood Group System in Man
Discovery:

 ABO blood group system was discovered by Karl Landsteiner in 1901.

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Genetic Basis of ABO System:

 Bernstein explained the genetic basis of ABO system in 1925.

 This blood group system is encoded by a single polymorphic gene I on chromosome 9.
 It has three multiple alleles IA, IB, and i.

Phenotypes and Genotypes in ABO System:

 ABO system has four different phenotypes which are distinct from each other on the basis of specific
antigens on the surface of RBC.
1. Blood Group-A/ A Phenotype:
 A person having antigen A has blood group A.
 Allele IA specifies production of antigen A.
 Allele IA is codominant to IB but dominant over i.
 Therefore IAIA or IAi genotypes will produce phenotype A.
2. Blood Group-B/ B Phenotype:
 A person having antigen B has blood group B.
 Allele IB specifies production of antigen-B.
 Allele IB is codominant to IA but dominant over i.
 Similarly IBIB or IBi produces phenotype B.
3. Blood Group-AB/ AB Phenotype:
 A person having both the antigens A and B has blood group AB.
 Alleles IA and IB are codominant to each other, because each expresses equally in IAIB heterozygote to
produce AB phenotype.
 AB blood group individuals are called universal recipients because they can receive transfusions of blood
from any of the four blood groups.
4. Blood Group-O/ O Phenotype:
 A person having neither antigen A nor B would have blood group O.
 Allele i does not specify any antigen.
 Allele i is recessive to both IA and IB.
 The homozygous ii will produce phenotype O.
 O blood group individuals are called universal donors.

Blood Group/ Genotype Antigen Antibody

Phenotype
A IAIA (Homozygous) A Anti-B
IAi (Heterozygous)
B IBIB (Homozygous) B Anti-A
IBi (Heterozygous)
AB IAIB AB No
O Ii No antigen Anti-A
Anti-B

Expression of Blood Group Alleles:

 The blood group alleles start their expression at early embryonic stage.
 They keep on expressing themselves till death.
 Therefore the blood group phenotype of a person never changes throughout life.

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Anti-A and Anti-B Antibodies:
 Anti-A and anti-B antibodies appear in plasma during the first few months after birth.
 They are naturally occurring in the absence of corresponding antigen.

Presence of Anti-B Antibodies:

 The blood serum of A phenotype contains anti-B antibodies.

 They will agglutinate or clump any RBC which have B antigens on them.

Presence of Anti-A Antibodies:

 B phenotype contains anti-A antibodies in the serum.

 It will agglutinate any RBC with antigen A.

Absence of Both Antibodies:

 Phenotype AB has neither anti-A nor anti-B antibodies in the serum.

Presence of Both Antibodies:

 The serum of O blood type contains both anti-A and anti-B antibodies.

Antiserum:
 The blood serum containing anti-bodies is called antiserum.

Agglutination and Hazards:

 Agglutination leads to serious results because clumped cells cannot pass through fine capillaries.
 The blood samples of the donor and the recipient are cross matched for compatibility before giving
transfusion.
 If incompatible blood is transfused, dangerous hemolytic reaction occurs.
 Either the antibodies of the recipient destroy the RBC of donor or the antibodies of the donor hemolyze the
RBC of the recipient.

Safe Blood Transfusion:

 Any blood transfusion is ideally safe if it does not cause agglutination in the recipient.
 Blood group A can be transfused only into A and AB recipients because they do not have anti - A antibodies.
 Blood group B can be transfused only into B and AB recipients as they do not have anti - B antibodies.
 AB blood can be transfused only into AB recipients because they have neither anti - A, nor anti B antibodies.
 O blood has neither A nor B antigen, but it does have anti - A and anti-B antibodies.
 An O recipient can only be given transfusion from a donor O.
 Phenotype O can also be used as donor for small transfusions to A, B and AB recipients because donor’s
antibodies are quickly absorbed by other tissues or greatly diluted in the recipient’s blood stream.

Important Information:
 A and B antigens can also be present in saliva and other body fluids of some persons called secretors.
 Secretors have dominant secretor gene “Se” on chromosome 19.

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Uses of Blood Group Analysis:
 Genetic analysis on the basis of blood groups helps in solving cases of disputed parentage.
 It can only be used to prove that an individual is not the parent of a particular child.
 For example, a child of AB phenotype (IA IB) can not be the child of a parent of phenotype O (ii).
 Similarly a man of B phenotype cannot be father of a blood type A child, whose mother is of phenotype O.
 His father could either be A or AB phenotype.

Activity:
Two new born babies get mixed up in the nursery of a hospital. Baby I is. type B and baby II is of type O. Determine
their parentage from the phenotypes of these two couples. Mr. Haris is type A and Mrs. Haris is type AB. Mr. and
Mrs. Bilal are both of type A.

Rh Blood Group System

Discovery of Rh Factor:

 ABO blood type is further differentiated by a + or - sign.

 This positive or negative sign refers to the presence or absence of another blood group system antigen called
Rh factor.
 Rh blood group system is defined on the basis of Rh factor present on the surface of RBC.
 This system is named Rh after Rhesus monkey, because its antigen was first discovered in it by Landsteiner in
1930s.

Genetics of Rh Blood Group System:

 Rh blood group system is encoded by three genes C, D and E, which occupy two tightly linked loci.
 Alleles of gene D occupy one locus called locus D, while genes C and E alternatively occupy the other locus.
 The D locus is of prime importance.

Role of Gene-D:

 Gene D has two alleles, D and d.

 D is completely dominant over d.
 Persons having genotype DD or Dd have Rh factor on their RBC and are Rh+.
 Persons with genotype dd do not have Rh factor and are Rh--.

Production of Rh-Antibody:

 Unlike the naturally occurring anti - A and anti - B antibodies of ABO system, anti - Rh antibody production
requires a stimulus by the human Rh antigen itself.
 An Rh- person does not produce anti - Rh antibodies unless he is exposed to Rh antigen.

Rh Blood Transfusion:

 Rh+ donor is totally incompatible for Rh- recipient.

 If an Rh- person receives Rh antigen through wrong Rh+ blood transfusion, he will begin to produce anti - Rh
antibodies against Rh antigens.
 Rh-- blood, clear of any anti - Rh antibody from a donor who has never been exposed to Rh antigen can be
transfused to Rh+ recipient.

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Chapter # 22 Variation and Genetics
Erythroblastosis Foetalis:

Maternal-Foetal Rh Incompatibility:
 Hemolytic disease of new born due to maternal foetal Rh incompatibility is erythroblastosis foetalis.

Occurrence:

 Maternal-foetal incompatibility results when an Rh- woman, married to an Rh+ man conceives a child who is
Rh+.
 If the man’s genotype is DD, all of their offspring (Dd) will be Rh+.
 If the man’s genotype is Dd, half of their offspring with Dd genotype will be Rh+.

Incompatibility:

 If RBC of Rh+ foetus cross the placental barrier and enter into Rh- mother’s blood stream, the mother’s
immune system reacts to the foetal Rh antigen stimulus by producing a large number of anti - Rh antibodies.
 When mother’s anti - Rh antibodies seep through placenta into blood circulation of foetus, they start
hemolysis (break down / bursting) of RBC of foetus.
 As this destruction continues, the foetus becomes anaemic.
 The anaemic foetus starts to release many -immature erythroblasts into his blood stream.
 That is why this hemolytic disease of the new born is called erythroblastosis foetalis.

Effects:

 This hemolytic anaemia may lead to abortion or still birth.

 Even if the pregnancy continues, the liver and spleen of the foetus swell as they rapidly produce RBC.
 The breakdown product of RBC called bilirubin also accumulates in the foetus.
 Bilirubin damages his brain cells and turns his skin and whites of the eye yellow.
 This condition is jaundice.
 So the baby if born alive, suffer from severe hemolytic anaemia and jaundice.

Treatment of Infant:

 Such baby’s blood should be immediately replaced by Rh blood free of anti - Rh antibodies.

Chances of First Incompatibility and Effects to Later Pregnancies:

 The first Rh incompatible pregnancy may not face much problems if very few of foetal antigens cross
placenta into maternal circulation and the amount of maternal antibody production is not very high.
 But when placenta detaches at birth, a large number of foetal cells enter mother’s blood stream and
stimulate production of large amount of anti - Rh antibodies by the mother.
 These anti - Rh antibodies persist in mother’s blood for a long time and are persistent risk for the next Rh+
foetus.

Prevention of Rh Incompatibility:

 Rh sensitization of Rh-- mother is avoided by a simple therapy.

 She is given an injection of Rh antiserum during early pregnancy and immediately after birth.
 The Rh - antibodies in the Rh antiserum will destroy Rh+ RBC of the foetus before they stimulate production
of maternal anti - Rh antibodies.
 The injected antiserum disappears before the next pregnancy.

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Prevention by Mild ABO Incompatibility:

 Sometimes a mild ABO incompatibility protects the baby against a more severe Rh incompatibility.
 If O-- mother conceives A+ or B+ baby, any foetal A or B type RBC entering the mother’s blood are quickly
destroyed by her anti - A or anti - B antibodies, before she can form anti - Rh antibodies.

Activity:
An Rh” woman is married to an Rh+ man whose father was also Rh”. What is the probable risk of erythroblastosis
foetalis in their babies?

EPISTASIS
 When an effect caused by a gene or gene pair at one locus interferes with or hides the effect caused by
another gene or gene pair at another locus, such a phenomenon of gene interaction is called epistasis.
 Epistasis must not be confused with dominance.
 Dominance is the relationship between alleles of the same gene occupying the same locus, but epistasis is
the interaction between different genes occupying different loci.

Bombay Phenotype
 The expression of-ABO blood type antigens by IA or IB gene depends upon the presence of another gene H.
 ABO locus is on chromosome 9, while H locus is on chromosome 19.
 H gene changes a precursor substance into substance H.
 It produces an enzyme that inserts a sugar onto a precursor glycoprotein on the Surface of RBC.
 Only then antigen A or antigen B specified by IA or IB gene could attach to this sugar of substance H.
 The recessive allele h cannot insert sugar molecule to glycoprotein.
 Therefore, hh individuals lack the site of attachment for antigen A or antigen B.
 Thus A and B antigens cannot adhere to their RBC and fall away.
 Their RBC lack A and B antigens although they do not lack IA and IB genes.
 They are phenotypically like O, but are not genotypically O.
 Their phenotype is called Bombay phenotype.

Fig: Bombay phenotype result from epistasis

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Activity:
A student, of biology learns about ABO blood types. He knows that he is typeO, and his father is type A and mother is
type AB. He wonders how his blood type could have arisen. Suggest how type A and AB parents could produce a
child of blood type O.

PLEIOTROPY
 When a single gene affects two or more traits, the phenomenon is called pleiotropy.
 Such a gene with multiple phenotypic effects is called pleiotropic.

Examples:

1. White eye gene in Drosophila also affects the shape of sperm storing organs (spermathecae).
2. Genes that affect growth rate in humans also influence both weight and height.
3. In cats, the dominant allele W not only makes fur pure white but also causes deafness.
 In ww homozygous normal pigmented cats, melanocytes produce pigment of fur and also contribute to hair
cells in inner ear that sense sound.
 When a cat gets W allele, its melanocytes fail to develop properly.
 Melanocyte failure causes both phenotypes, i.e. white fur and deafness.

Continuously Varying Traits

 Genotype interacts with environment to produce phenotype.

Phenotypic expression of traits has two aspects:

1. Qualitative Discontinuous Traits:

 Qualitative traits show qualitative differences.
 Qualitative differences are large and more obvious.
 These traits have fewer phenotypes.
 These traits are controlled by a single gene with few alleles.

Example:

 Pea seed shape, show discontinuous qualitative variations with two sharply distinct phenotypes, round or
wrinkled.
 4 O’clock flower color can have three phenotypes, red, pink and white.
 ABO blood group system have four qualitatively different phenotypes A, B, AB and O.
2. Quantitative Continuously Varying Traits:
 Quantitative traits show quantitative variation.
 Quantitative variations are small and less striking.

Example:

 Many traits like height, weight, intelligence and skin color in humans, and grain color in wheat exhibit
continuous quantitative variation over a range of many phenotypes.

Mendel’s Focus:

 Mendel focused on traits that showed only two qualitatively different phenotypes which could be
determined by just two alternate alleles of a single gene.

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Darwin’s Observation:

 Darwin observed small continuous variations within individuals of a population.

 Such a range of phenotypic spectrum of a trait cannot be traced to a single gene with two alleles.
 Even a few multiple alleles of a single gene cannot make such a wide range of phenotypes.

Differentiate between continuously/quantitatively and discontinuously/qualitatively varying traits:

Sr# Qualitative Variations Quantitative Variations

1 Variations having sharp differences Variations having minute differences in
between phenotypes of traits are called phenotypes of traits are called quantitative
qualitative variations. variations.
2 No intermediate conditions are found. Intermediate conditions are found.
3 These are controlled by a single gene with These are controlled by many genes with their
two or three alleles. many alleles in population.
4 For example, tongue rolling in human For example, skin color, height etc

Polygenic Traits/ Polygenes:

 Continuously varying trait is encoded by alleles of two or more different gene pairs found at different loci, all
influencing the same trait in an additive way.
 These quantitative traits are called polygenic traits and their genes are polygenes.

Explanation:

 Each polygene has a small positive or negative effect on the character.

 Polygenes supplement each other and sum of positive and negative effects of all individual polygenes
produce quantitative phenotypes of a continuously Varying trait.

Example:

 Wheat grains vary in color from white to dark red.

 This trait shows a continuous spectrum of color variation.
 Some grains are white, some are deep red but most grains have shades in between from light pink to
moderately dark red.
 Nilsson Ehle studied the genetics of wheat grain color.
 When he crossed a true breeding dark red grain plant with a true breeding white grain plant, all Fi grains had
light red color, intermediate between two parental shades.
 It seemed as if it was a case of incomplete dominance.

But when F1 grains were grown to mature plants and crossed with each other, F2 grains had exactly seven shades
of color in the ratio as follows:

Dark Red : Moderately dark red : Red : Light red : Pink : Light pink : White

1 : 6 :15 : 20 : 15 :6 :1

Genetics of Wheat Grain Color:

 Three different gene pairs, i.e. Aa, Bb, Cc at three different loci contribute to the wheat grain color.
 Each individual would contain six alleles for the trait.
 Alleles A, B and C code for an equal amount (dose) of red pigment, which is a positive effect.

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 But none of a, b and c encode red pigment, which is a no (zero) dose negative effect.
 Thus the color phenotype of the grain is the sum of the individual effects of all the six alleles.
1. Dark Red:
 If all the six alleles code for red pigment, the grain is dark red.
 For example, (AABBCC).
2. White:
 When none of the six alleles encode red pigment, the grain is white.
 For example, (aabbcc).
3. Light Pink:
 When a grain has one allele for red pigment,its color is light pink.
 For example, (Aabbcc or aaBbcc or aabbCc).
4. Pink:
 If it has two alleles for the pigment,it is pink.
 For example, (AaBbcc or aaBbCc or AabbCc).
5. Light Red:
 If it has three pigment alleles, it will be light red.
 For example, (AaBbCc or AABbcc or AabbCC).
6. Red:
 Similarly four alleles color dose will make red.
 For example, (AABBcc or aaBBCC or AAbbCC).
7. Moderately Dark Red:
 Five alleles color dose will produce moderately dark red grain.
 For example, (AABBCc or AABbCC or AaBBCC).

Role of Environment:

 Environmental factors like light, water and nutrients also influence the amount of grain color.
 Environmental variations make the distribution of phenotypes more smooth and continuous.

Fig: Number of pigment - contributing alleles in F2

Other Examples of Quantitative Traits:

Human Skin Color:

 Human skin color is also a quantitative trait which is controlled by three to six gene pairs.
 The greater the number of pigment specifying genes, the darker the skin.
 A child can have darker or lighter skin than his parents.

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Human Height:
 Human height is a more complex polygenic trait.
 The perfectly continuous variation in range of human heights produces a smooth bell - shaped curve.
 A few people are very tall or very short, but most individuals fall in the average or mean value.
 This trait is controlled by many pairs of genes at different loci.
 Even multiple alleles may be possible at each locus.
 More the number of alleles for shortness, the shorter the height will be.
 Similarly greater the number of alleles for tallness, the taller the height will be.

Role of Environmental Factors:

 Environment also has a strong influence on height, intelligence and skin color in humans.
 Constant exposure to sun darkens skin.
 Poor nutrition prevents achieving genetically determined height.
 Healthy and encouraging social environment promotes intelligence.

Activity:
Study continuous variations in height and discontinuous variation in tongue rolling ability Of man and record your
observations as histograms.

Frequency Histogram:
 Frequency histograms illustrate variations.
 A frequency histogram is a simple graph.
 The horizontal or X axis indicates the range of different phenotypes of a trait within a population.
 The vertical or Y axis indicates the number of individuals or their percentage in the population.

Tongue Roller:

 Some people can roll their tongue into a distinct U shape when they extend it out of their mouth.
 They are called rollers.
 This ability is due to a single dominant gene.
 It is a discontinuous variation inherited in simple Mendelian fashion.
 Its frequency diagram forms asymmetric distribution curve, with much greater frequency of phenotypes at
one end than at the other.

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Human Height:

 Human height is a continuously varying trait.

 If we plot a frequency diagram of heights of humans in a large population, so many phenotypes are found
with categories blending into one another.
 It forms a smooth bell shaped normal distribution curve.

Fig: Comparison of a continuous and a discontinuous variation in human

Gene Linkage
 All the genes located on the same chromosome are linked to each other.
 This phenomenon of staying together of all the genes of a chromosome is called linkage.

Explanation:

 Every organism possesses numerous characters controlled by thousands of genes, but the number of
chromosomes is limited.
 Therefore, each chromosome must carry many genes on it.
 Gene linkage is a physical relationship between genes.

Linkage Group:

 A chromosome carries its linked genes present in the form of a linkage group.
 The number of linkage groups corresponds to the number of homologous pairs of chromosomes.
 Man has 23 linkage groups.
 Genes for color blindness, hemophilia, gout etc form one linkage group on human X - chromosome.
 Similarly, gene for sickle cell anaemia, leukemia and albinism make another linkage group on human
chromosome 11.

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Limitation of Gene Linkage:

 Linked genes whose loci are close to each other do not obey Mendel’s law of independent assortment,
because these cannot assort independently during meiosis.
 Gene linkage also minimizes the chances of genetic recombination and variations among offspring.

CROSSING OVER
 Crossing over is an exchange of segments between non-sister chromatids of homologous chromosomes
during meiosis.

Linkage and Crossing Over:

 Linked genes can be separated by crossing over.

 Closer the two gene loci, more strongly are their genes linked.
 The farther apart two genes lie, greater are chances of their separation through crossing over.

Explanation:

 Let us visualize crossing over by considering only one pair of homologous chromosome.
 The homologous chromosomes pair up lengthwise, point to point and locus to locus.
 One homologue carries genes ‘A’ and ‘B’ the other homologue has ‘a’ with ‘b’.
 Chiasmata are formed at many places between non-sister chromatids of homologous chromosomes.
 Crossing over occurs at 4 strand stage between non-sister chromatids.
 It may take place at more than one place along a chromosome.
 Exchange of chromosome segments logically means exchange of DNA, i.e. genes or alleles.
 As alleles of non-sister chromatids are different, an exchange between their segments results in
recombination of genes.
 Allele ‘b’ crosses over to homologue containing allele ‘A’; and allele ‘B’ comes on the homologue of ‘a’.
 Then homologous chromosomes separate by opening up chiasmata.
 The sister chromatids also separate from each other and each becomes an independent chromosome to
move singly in each of the four haploid gametes.
 Four types of gametes are formed; two with parental combinations of linked genes, i.e. AB and ab, and two
with recombination of genes, i.e. Ab and aB.
 If crossing over does not occur, only the two parental types of gametes are formed.
 Parental types of gametes produce parental types of offspring, while recombination gametes produce
recombinant types of offspring.

Fig: Crossing over and recombine gene

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Cross Over or Recombination Frequency
 It is the proportion of recombinant types between two gene pairs as compared to the sum of all
combinations.
 Recombination frequency= (Recombination types/sum of all combination) X 100
 The recombination frequencies between two linked genes can be calculated by backcrossing the
heterozygote to a homozygous double recessive.

Fig: Recombination frequency between two linked genes.

Linkage Map and Unit Map Distance:

 The recombination frequency is directly proportional to the distance between the linked gene loci.
 Genes can be mapped on a chromosome on the basis of their recombination frequencies.
 If 1% of recombination frequency is equal to 1 unit map distance, the two linked genes A and B with a 20%
recombination frequency must be 20 units apart.

Importance of Crossing Over:

 Crossing over produces genetic variationsamong offspring.
 Genetic variations lead to tremendous variations in their traits.
 Variations provide raw material for evolution by letting them adapt successfully to the changing
environment.

Differentiate between gene linkage and crossing over:

Sr# GENE Linkage Crossing Over

1 All the genes located on the same Exchange of genetic material between non-sister

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chromosome are linked to each other. chromatids of homologous pair of chromosomes
This phenomenon of staying together of at chiasmata is called crossing over.
all the genes of a chromosome is called
linkage.
2 It reduces the variation. It produces variation.
3 This phenomenon has no contribution in It contributes to evolution.
evolution.

SEX DETERMINATION

Sex Chromosomes
 The search for mechanism of inheritance of sex started after discovery of Mendel’s work in 1900.
 A clear picture of the genetic basis of sex determination emerged after the discovery of sex chromosomes.
 The fruit fly, Drosophila melanogaster has eight chromosomes in the form of four homologous pairs.
 T.H. Morgan (1911) noticed a peculiar difference in the chromosomes of male and female Drosophila.
 The chromosomes of the three homologous pairs were similar in both of the sexes, but the fourth pair was
very different.
 The female had two similar rod shaped X-chromosomes in the fourth pair, while the male had one rod
shaped X-chromosome but the other a morphologically different, J-shaped Y chromosome in the fourth
heteromorphic pair.

Fig Chromosomes of andDrosophila melanogaster.

Sex Chromosomes:

 X and Y chromosomes are called sex-chromosomes because these have genes for determination of sex.
 Chromosomes of the other three pairs are autosomes.

Autosome Chromosomes:

 All chromosomes other than sex-chromosomes are called autosomes.

 Autosomes do not carry any sex determining gene.

Human Chromosomes:

 Humans have 46 chromosomes in the form of 23 pairs.

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 22 pairs are of autosomes and one pair is of sex-chromosomes.
 Autosome pairs are common in both the sexes but the 23rd sex chromosome, pair is very different in males
and females.
 A woman has two similar X chromosomes in her 23rd pair but a man has an X chromosome along with a
much shorter Y chromosome in his 23rd pair.
 The 23rd pair in man is heteromorphic.
 She is XX but he is XY.

Fig: Sex chromosome of man

SRY:
 SRY is the male determining gene.
 It is located at the tip of short arm of Y-chromosome.
 Its name SRY stands for “Sex determining regions of Y.”

Chromosomes in Grasshopper:
 In some grasshoppers males and females have different number of chromosomes.
 The female has 24 chromosomes in the form of 11 pairs of autosomes and a pair of X chromosomes.
 But the male grasshopper has 23 chromosomes.
 He has 11 pairs of autosomes and only one X chromosome.
 The other member for sex chromosome pair is entirely missing in male.
 Thus male is XO and female is XX.

Differentiate between sex chromosomes and sex chromosomes:

Sr# Autosome Sex Chromosme

1 Chromosomes which contains the genes Chromosomes which are involved in sex
for body organs other than sex organs determination are called sex chromosomes.
are called autosomes.
2 In an organism usually more than one In an organism usually a single pair of sex
pair of autosomes are present. chromosome is present.
3 Human has 22 pairs of autosomes. One pair of sex chromosomes is present which is
XX in female and XY in male.

Patterns of Sex Determination

 There is a wide variety of sex determining mechanisms but three patterns are morecommon.
1. XO - XX Type:
 This pattern of sex determination is found in grasshopper and Protenor bug.
 Maleis XO because it has only one X chromosome.

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 The other sex chromosome is missing entirely.
 Male is heterogametic because it forms two types of sperms.
 Half the sperms have X chromosome while the other half are without any sex chromosome.
 A gamete without any sex chromosome is called nullo gamete.
 Female is XX, because it has two X -chromosomes.
 It is homogametic, it forms only one type of eggs.
 Every egg carries an X chromosome.
 Sex of the offspring depends on the kind of sperm that fertilizes the egg.
 If an X-carrying sperm fertilizes the egg, an XX female offspring is produced.
 If the nullo sperm fertilizes the egg, an XO male offspring is produced.
 Sex ratio between male and female offspring is 1:1.

Fig: Sex determination in grasshopper and Protenor bug.

2. XY-XX Type:
 This pattern of sex determination is found in Drosophila, man and many other organisms.
 Male is XY and female is XX.
 Male being heterogametic produces two types of sex-determining sperms.
 Half the sperms carry X-chromosome and the other half carry Y - chromosome.
 Chances for both types of sperms are equal.
 Female being homogametic produces only one type of eggs, each with an X chromosome.
 Sex of the offspring is determined by the type of sperm.
 If an X - carrying sperm fertilizes the egg, the zygote will be XX, and a female offspring is produced.
 If a Y - carrying sperm fertilizes the egg, the zygote will be XY, and a male offspring will be produced.
 The sex-ratio between male and female offspring is 1:1.
 Sex ratio indicates chances of the sex of the offspring.
 Chances for a son or daughter in human birth are equal.

Fig: pattern of sex determination in man and Drosophila.

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3. ZZ - ZW Type:
 This type of sex - determination pattern is common in birds,butterflies and moths.
 It was discovered by J. Seiler in 1914 in moth.
 It is the reverse of XY - XX system.
 Here the female is heterogametic ZW but the male is homogametic ZZ.
 Female produces two kinds of eggs Z and W in equal proportions.
 All sperms are alike, each carrying a Z - chromosome.
 It is the kind of egg that determines the sex of offspring.
 When a Z - carrying egg is fertilized by the sperm, a male offspring is produced, but when a W - carrying egg
is fertilized by the sperm a female offspring is produced.
 Sex ratio is 1:1:

Fig: sex determination in birds

Compound Sex Chromosomes:

 Some species have compound sex chromosomes.
 They maintain many X or Y or both XY chromosomes of more than one kind that act together as a single sex-
determining group.
 That is why the difference in number of chromosomes between male and female is very large.
 In the round worm Ascaris incurva, the female has 42 chromosomes in the form of 8 pairs of compound X
along with 13 pairs of autosomes (16+26).
 Its male has 35 chromosomes comprising 8X plus one Y along with 13 pairs of auto some (8+1+26).

Comparison of Chromosomal Determination of Sex between Drosophila and Humans

 Although both Drosophila and humans follow the same XY - XX sex determining pattern, yet there is a basic
technical difference between the two.
 Presence of ‘SRY’ gene on Y chromosome is essential for triggering the development of maleness in humans.
 Absence of Y chromosome simply leads to the female development path.
 XO Turner’s syndrome in humans produced through non-disjunction is a sterile female.
 But in Drosophila XO is a sterile male.
 Similarly XXY individual produced through non disjunctional gametes in humans is a sterile male called
Klinefelter’s syndrome, but the same XXY set of chromosomes in Drosophila produces a fertile female.

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Fig: Comparison of sex determination in man and Drosophila

 There is a close genic balance between genes of different chromosomes.

 Drosophila has an X chromosome-autosome balance system.
 Its Y chromosome appears to have very little influence on sex.
 Here actually the X chromosome is female determining and the autosomes are male determining.
 Sex of an individual depends more on the number of X chromosomes relative to the number of sets of
autosomes.
 An X : A ratio of 1.00 or higher produces female whereas an X : A ratio of 0.5 or lower produces males.

Sex Determination in Plants

 Plants show a variety of sexual situations.
 Some species like Ginkgo are dioecious having plants of separate sexes.
 Male plants produce flowers with only stamens and female plants produce flowers with only carpels.
 Some dioecious plants have a difference of sex chromosomes between the sexes.
 These have an X - Y system.
 These plants typically exhibit an X - chromosome - autosome balance system for sex determination.
 Many other sex - determining mechanisms are also seen in dioecious plants.
 Correns (1907) discovered that pollens of certain plants were sex - determining.
 All eggs are of one type.
 Pollens of the two types are produced in equal number.
 One kind of pollen after fertilizing the egg produces male plant whereas the other kind of pollen after
fertilization produces female plant.

Fig: Pollen determines sex

Sex Determination in Microorganisms:

 Many species of eukaryotic microorganisms like yeast do not have sex chromosome.
 These depend on genic system for determination of sex.
 In this system the sexes are specified by simple allelic differences at a small number of gene loci e.g., a and α
are the two mating types (sexes) of yeast, controlled by MAT a and MAT α alleles respectively.

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SEX LINKAGE

Sex Linkage in Drosophila

 Thomas Hunt Morgan (1910) provided experimental evidence in support of chromosomal theory of heredity
through discovery of sex linkage in fruit fly Drosophila.

Step-1

 Morgan raised cultures of Drosophila flies to study different traits, such as color of the eye.
 Normal fruit flies, the wild type, have bright red eyes.
 One of his coworkers Calvin Bridges, observed an unusual white eye mutant male fly.
 Morgan mated this white eyed male with a wild type red eyed female.
 All 1237 offspring of this cross had red eyes.
 Morgan concluded that red eye is a dominant trait.

Step-2:

 Morgan allowed males and females of F1 generation to mate and produce F2 generation.
 He counted 2459 red-eyed females, 1,011 red-eyed males and 782 white eye males among F2.
 The proportion of 3470 red eyed to 782 white eyed flies did not perfectly it into Mendelian 3:1 ratio.
 The number of recessive phenotype individuals was too small.
 There was another peculiarity in this result.
 All the white-eyed flies were only males.
 There was no white eye female in F2 generation.
 The inheritance of eye color some how seemed to be related to the ‘sex’ of the offspring.

Morgan proposed that:

 The gene for eye color is located on X chromosome.

 The alleles for eye color are present only on X chromosome.
 There is no corresponding allele for this trait on Y chromosome.
 Thus even a single recessive allele on X chromosome can express itself in males because Y chromosome is
empty for that gene.
 Males are hemizygous as they carry just one allele on their only X chromosome.
 Females have two X chromosomes each carrying an allele of the trait.
 Females can be homozygous or heterozygous.

Symbols of Alleles:

 Symbol “w” represents the recessive allele for white eye, and “w+” designates its wild type allele for red eye.
 The genotypes of the parents of P1 cross were: Xw+Xw+ for red eye female, and Xw Y for the white eye male.
 Morgan’s hypothesis explained clearly why all the white eyed flies in F2 generation were only males.

Step 3: Test Cross:

 Morgan wanted to test his hypothesis.

 He crossed the P1 white eyed male (XWY) with one of its own daughters, the red eyed heterozygous female
from F1 generation.
 This test cross produced 129 red-eyed females, 132 red-eyed males, 88 white-eyed females and 86 white
eyed males.

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 White-eyed flies were less viable than red-eyed lies.
 Half the female offspring in fact had red eyes and half had white.
 Similarly half the males had red eyes and half had white.

Step 4: Reciprocal Cross as a Confirmatory Test:

 Appearance of white eyed female provided an opportunity for a further confirmatory test.
 Morgan mated a white eyed female with a red-eyed male.
 All female offspring had red eyes, and all male offspring had white eyes.
 Then these F1 red eyed females and white eyed males were mated to produce F2.
 Half of the F2 females had red eyes, half had white.
 Similarly half of the F2 males had red eyes and half had white.
 This F1 x F1 cross was exactly like step 3 test cross.

Third Step Cross/ Test Cross Fourth Step Cross/ Reciprocal Cross

X-Linked Traits:
 A trait whose gene is present on X chromosome is called X - linked trait.
 X - linked traits are commonly referred as sex-linked traits.
 A gene present only on X chromosome, having no counterpart on Y chromosome, is called X - linked gene.

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Pattern of Sex Linked Inheritance:

 Sex-linked inheritance follows a very specific pattern.

 As a son inherits his X chromosome only from his mother, and a daughter gets an X chromosome from each
parent.
 An X-linked trait passes in a crisscross fashion from maternal grandfather (P1) through his daughter (F1) to
the grandson (F2).
 It never passes direct from father to son because a son inherits only Y chromosome from father.

Morgan’s Contribution:

 Morgan’s discovery of sex-linked inheritance was a great contribution to the understanding of genes and
chromosome.
 In 1933, T. H. Morgan was awarded a Nobel Prize for his contributions to genetics.

Y-Linked Traits:
 Y chromosome is not completely inert.
 It does carry a few genes which have no counterpart on X chromosome.
 Such genes are called Y-Linked genes and their traits are called Y-linked traits.
 For example, SRY gene on Y chromosome of man determines maleness.
 Y - linked traits are found only in males.
 These traits directly pass through Y chromosome from father to son only.
 As females do not normally inherit Y chromosome, such traits can not pass to them.

Pseudoautosomal Traits/ X and Y Linked Traits:

 Some genes are present on X and Y both.
 These are called X - and - Y linked genes.
 These are also called pseudoautosomal genes because their pattern of inheritance is like autosomal genes.
 Traits controlled by these genes are called psudoautosomal traits or X and Y linked traits.
 For example, bobbed gene in Drosophila

Reason for Drosophila Use in Genetic Research:

Drosophila is a very useful organism for genetic studies for many reasons as follows:

Easy Culturing:

 The tiny fly is often seen hovering over rotten fruits.

 It can be easily collected and cultured on mashed banana and other fruits.
 It does not need large spacious cages.
 It lives happily in ordinary glass bottle of jams and marmalades.
 It eats yeast that grows on mashed banana.

Sexual Dimorphism:

 Male and female Drosophila show sexual dimorphism.

 These are morphologically distinct from each other.
 Male is smaller in size with black rounded abdomen.
 Female is larger with pointed abdomen.

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 Male has sex combs on front legs.

Low Generation Time:

 Drosophila has a generation time of just two weeks.

 It lays a large number of eggs which hatch out into fertile offspring.
 Many generations can be raised in a relatively short time.

Large Number of Contrasting Traits:

 Drosophila is perfectly suited for genetic studies.

 It shows fairly large number of distinct contrasting traits.
 Morgan and his colleagues studied pattern of inheritance of more than 85 traits of Drosophila.
 Its larvae are excellent material for dissection for chromosome study.
 It has only eight chromosomes in four homologous pairs that can be conveniently studied under a
microscope.
 Its salivary gland cells have giant chromosomes in their nuclei.
 These giant chromosomes have characteristic banding patterns corresponding to genes.

Genome Sequencing:

 The entire genome of Drosophila has been successfully sequenced as part of human genome project.

Sex - Linkage in Humans

Humans have many X - linked traits of which are of two types:

X-Linked Dominant:

 X-linked dominant is a trait which is determined by an X linked dominant gene.

 Hypophosphatemic or vitamin D resistant rickets are dominant.

X-Linked Recessive:

 X-linked recessive is a trait that is determined by an X - linked recessive gene.

 Haemophilia and color blindness are examples.
 Experimental mating are not practically possible in humans.
 Mode of inheritance of human traits can be traced through pedigrees.
 Their patterns of inheritance are very different from each other.

Genetics of Haemophilia:
 Haemophilia is a rare X — linked recessive trait.
 Haemophiliac’s blood fails to clot properly after an injury, because it has either a reduction or malfunction or
complete absence of blood clotting factors.
 It is a serious hereditary disease because a haemophiliac may bleed to death even from minor cuts.

Types of Hemophilia:

Hemophilia is of three types:

1. Hemophilia A.
 80% hemophiliacs, suffer from hemophilia A due to abnormality of factor VIII.

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2. Hemophilia B.
 About 20% suffer from hemophilia B due to disturbance in factor IX.
3. Hemophilia C.
 Less than 1% suffer from hemophilia C due to reduction in factor XI.

Nature of Hemophilia Types:

 Hemophilia A and B are non - allelic recessive sex – linked.

 Hemophilia C is an autosomal recessive trait.
 Being X - linked recessives, hemophilia A and B affect men more than women, but hemophilia C affects both
the sexes equally because it is autosomal.

Genetics of Hemophilia A & B:

 Chances for a man to be affected by hemophilia A and B are greater than a woman.
 A woman can suffer from hemophilia A or B only when she is homozygous for the recessive allele, but a man
with just one recessive allele will display the trait.
 Hemophilia A and B zigzag from maternal grandfather through a carrier daughter to a grandson.
 It never passes direct from father to son.
 Gene for normal is H.
 Gene for hemophilia A is h.
 In generation I of this pedigree, a man (I - 2) suffering from hemophilia A marries a normal woman (I - 1).
 He passes hemophilia gene to his daughter (II - 2) through his X chromosome.
 He cannot pass this gene to his son (II - 3) because the son receives only Y chromosome from him.
 His daughter (II - 2) also receives another X but with normal dominant allele from her mother (I - 1).
 The daughter looks phenotypically normal, but she is heterozygous and a carrier for the recessive gene.
 When she marries a normal man (II - 1) she passes her father’s trait to one of her two sons (HI - 4) who
inherits grandfather’s X from her.
 The single recessive allele for hemophilia expresses successfully in the hemizygous son because his Y
chromosome does not carry its counterpart.
 The other son (III - 3) is normal as he inherits grandmother’s X with normal gene.
 One daughter (III - 1) with both normal X is normal, but the other daughter (III - 2) is carrier like her mother.

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Activity:
Cases of Hemophilia A are reported in Queen Victoria’s family. Pedigree of Queen Victoria’s family indicates that
Queen Victoria was a carrier mother, because she gave birth to an affected son Prince Leopold. Prince Leopold
passed on this recessive X - linked trait in typical zigzag fashion through his carrier daughter (III - to his grandson
Rupert (IV - 1). Assign genotype to each individual. Can you explain how Alexis (IV - 3) became hemophiliac?

Fig: Pedigree of Queen Victoris’s family showing cases of Hemophilia A.

Genetics of Color-Blindness
Cone Cells:

 Normal trichromatic color vision is based on three different kinds of cone cells in the retina, each sensitive to
only one of the three primary colors, red, green or blue.
 Each type of cone cell has specific light absorbing proteins called opsins.

Genes Loci for Opsins:

 The genes for red and green opsins are on X chromosome only.
 They have no allele on Y chromosome.
 The gene for blue opsin is present on autosome 7.
 Mutations in opsin genes cause three types of color-blindness.

Dichromate:
 A dichromatecan perceive two primary colors but is unable to perceive the one whoseopsins are missing due
to mutation.

There are three types of dichromate:

i. Protanopia:
 Protanopia is red blindness.

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 It also called green-blue dichromacy.
 It is X-linked recessive trait.
ii. Deuteranopia:
 Deuteranopia is green blindness.
 It is also called red-blue dichromacy.
 It is also X-linked recessive trait.
iii. Tritanopia:
 Tritanopia is blue blindness.
 It is also called red-green dichromacy.
 It is simple autosomal recessive trait.

Protanomalous and Deuteranomalous:

 Some people can detect red and green but with altered perception of the relative shades of these colors.
 They have abnormal but still partially functional opsins.
 They are protanomalous and deuteranomalous for red and green weakness respectively.

Monochromate:
 A monochromat can perceive one color.
 Monochromacy is true color-blindness.

Blue Cone Monochromacy:

 Blue cone monochromacy is an X - linked recessive trait.

 In it, only blue cone is present.
 Both red and green cone cells are absent.
 That is why it is also called red - green color-blindness.
 It is a common hereditary disease.

Pattern of Genetics:

 Like any sex linked recessive trait, it also zigzags from maternal grandfather through a carrier daughter to a
grandson.
 It never passes direct from father to son.
 This type of color-blindness is more common in men than women, because chances for a male to be affected
by it are much more than a female.

Testicular Feminization Syndrome:

 It is a rare X-linked recessive trait.
 Although the persons affected by this trait have a male set of XY chromosomes, yet tfm gene on their X
chromosome develops them physically into females.
 They have breast, female genitalia, a blind Vagina but no uterus.
 Degenerated testis are also present in abdomen. Such individuals are happily married as females but are
sterile.
 It is an androgen insensitivity syndrome.
 Male sex hormone testosterone has no effect on them.

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X-Chromosome Evolution:
 Many X - linked traits in man are also found X - linked in other mammals like mouse, rabbit, dog, sheep,
horse, donkey, cattle, kangaroo and chimpanzee.
 Was the mammalian X chromosome conserved throughout mammalian evolution?

Activity:
 A sex-linked recessive allele “c” produces red - blindness. Its normal dominant allele is “C”.
 A normal woman whose father was red-blind, marries a red-blind man.
 What proportion of their children can have normal color vision?

X - Linked Dominant Inheritance:

 Pattern of X - linked dominant inheritance is different from X - linked recessive.
 It is more common in females than males.
 All daughters of an affected father, but none of his sons are affected.
 Any heterozygous affected mother will pass the trait equally to half of her sons and half of her daughters.
 Hypophosphatemic rickets is an X - linked dominant trait.
 It is a rare hereditary disease.
 It is different from common dietary rickets, which could be cured by taking vitamin D.
 It does not result from vitamin D deficiency but its cause is a genetic communication failure at molecular
level.
 The genes encoding bone proteins never receive vitamin D message to function.

Fig: Transmission Of X-linked dominant traits in humans.

Y - Linked Inheritance:
 Pattern of Y - linked inheritance is very peculiar.
 Maleness is a Y - linked trait.
 Y - linked trait passes through Y - chromosome from father to son only.
 Such traits cannot pass to daughters because they do not inherit Y - chromosome.
 All sons of an affected father are affected by a Y - linked trait.
 SRY gene on Y chromosome determines maleness in man.
 It is male sex switch which triggers developmental process towards maleness after 6 week pregnancy.

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Sex Limited Trait
 A sex-limited trait is limited to only one sex due to anatomical differences.
 Such trait affects a structure or function of the body present in only males or only females.
 These trails may be controlled by sex-linked or autosomal genes.
 Genes for milk yield in dairy cattle affect only cows.
 Similarly beard growth in humans is limited to men.
 A woman does not grow a beard herself but she can pass the genes specifying heavy beard growth to her
sons.

Sex Influenced Trait

 Sex influenced trait occurs in both males and females but it is more common in one sex.
 It is controlled by an allele that is expressed as dominant in one sex but recessive in the other.
 This difference in expression is due to hormonal difference between the sexes.
 Pattern baldness is a sex influenced trait.
 Many more men than women are bald.
 It is inherited as an autosomal dominant trait in males but as an autosomal recessive trait in females.
 A heterozygous male is bald but a heterozygous female is not.
 A woman can be bald only when she is homozygous recessive.

Activity:
A man is 45 years old and bald. His wife also has pattern baldness.

What is the risk that their son will lose his hair?

Diabetes Mellitus and Its Genetic Basis

 Diabetes mellitus is a hereditary disease.
 It is actually a heterogenous group of disorders which are characterized by elevated blood sugar level.
 Diabetics are unable to metabolise blood sugar in their body.
 They pass glucose in their urine.
 Diabetes is the leading cause of kidney failure, adult blindness, lower limb amputation and heart disease.

Types of Diabetes Mellitus:

There are two major types of diabetes:

Type I:

 Type I is IDDM or insulin dependent diabetes mellitus.

 Type I is also called Juvenile diabetes because it usually occurs in early age before 40.
 It arises due to deficiency of pancreatic hormone insulin that normally routes blood glucose to cells for use.
 Type I is an auto immune disorder.
 The immune system backfires and manufactures auto antibodies against body’s own cells.
 Sometimes, specific viral infections activate auto immune response.
 T - cells of immune system attack pancreas and destroy insulin producing β-cells.
 As a result, pancreas does not produce insulin.
 Diabetics of type I must receive exogenous (from outside source) insulin to survive.
 Progress is being made in understanding the genetic basis of this disease.

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 The insulin gene is located on short arm of chromosome 11.
 Polymorphism and genetic variations within this locus is responsible for diabetes type I susceptibility.
 But today, it is no more just a recessive single gene trait, rather it is a multifactorial (polygenic with
environmental influence) inheritance associated with several alleles.

Type II:

 Type II is non insulin dependent diabetes mellitus(NIDDM).

 Diabetes mellitus type II is non insulin dependent.
 It accounts for 90% of all diabetic patients.
 These persons produce some endogenous insulin themselves, but their body cells gradually fail to respond to
insulin and cannot take up glucose from blood.
 They develop a sort of insulin resistance.
 It occurs among people over the age of 40, and is more common among the obese.
 Obesity increases insulin resistance.
 As exercise reduces obesity it indirectly increases insulin sensitivity and improves glucose tolerance.
 There, definitely exists a genetic component in the form of an underlying tendency to develop diabetes
under certain environmental conditions.

MODY:

 About 2% - 5% of type II diabetics get the disease early in life, before 25 years of age.
 It is called maturity onset diabetes of the young (MODY).
 MODY can be inherited as an autosomal dominant trait.
 About 50% of cases of MODY are caused by mutations in glucokinase gene.
 Glucokinase enzyme usually converts glucose to glucose - 6 - phosphate in pancreas.
 MODY can also be caused by mutations in any of the four other genes which encode transcription factors
involved in pancreatic development and insulin regulation.
 But these four MODY genes do not play any significant role in adult - onset type II.

Multifactorial Trait:
 A polygenic trait also influenced by environmental factors is called multifactorial trait.

Example:

 Blood pressure is also an example of multifactorial trait.

 There is a correlation between systolic and diastolic blood pressure of parents and their children.
 This correlation is partly due to genes common in them.
 Blood pressure is also influenced by environmental factors such as diet, stress and tension.

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