CHAPTER 5 SKCH PU COLLEGE

UNIT VII GENETICS AND EVOLUTION

PRNCIPLES OF INHERITANCE
Study material By- Babu Rajendra (BRK)

 Branch of biology that deals with inheritance and variations is called Genetics.
 The process in which characters are passed on from parents to offspring is called inheritance.
 Changes found in offspring compared to parents are called variations.
 Inheritance is the basis of heredity.
Mendel’s Law Of Inheritance
 Mendel conducted hybridization experiments on garden pea plant for 7 years (1856-1863) and
proposed Laws of inheritance.
 He was first to use statistical analysis and mathematical logic for biological phenomenon.
 He conducted experiment on pea plant by taking characters that are expressed in opposite traits.
 The opposite traits of a characters are called contrasting characters.
 Mendel conducted cross pollination using true breeding pea lines.
 Plants that have under gone continuous self pollination and show same character for several
generations are called True breeding line.
 The seven pairs of contrasting characters( 14 true breeding pea plants) are
CHARACTER DOMINANT RECESSIVE
1. Position of flower Axillary(A) Terminal(a)
2. Color of flower Violate(V) White(v)
3. Pod (fruit) shape Inflated(I) Constricted(i)
4. Pod color Green(G) Yellow(g)
5. Color of seed Yellow(Y) Green(y)
6. Shape of seed Round(R) Wrinkled(r)
7. Height Tall(T) Dwarf(t)
IMPORTANT TERMS IN GENETICS
1. Gene – Basic unit of inheritance for a given character. It is also defined as unit of heredity.
2. Alleles – Genes which codes for a pair of contrasting traits are known as alleles.
3. Phenotype – External appearance of a character in an organism is called phenotype.
4. Genotype - Genetic composition or content of a character in an organism is called genotype.
5. Homozygous – Organism containing identical alleles for a character is called homozygous. Eg:
TT, tt.
6. Heterozygous - Organism containing non identical alleles for a character is called. Eg. Tt, Yy, Rr.
7. F1 generation/first hybrid generation- plants that are produced after a genetic cross represent
first hybrid generation or Filial1 progeny or F1 genration.
8. F2 generation – Generation obtained from the members of F1 generation is called second filial
Generation or Filial2 generation

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 9. Punnett square or checker board - It is a graphical representation to find out the probability of
all possible genotypes of offspring in a genetic cross. The possible gametes are written on two
sides, usually the top row and left columns. All possible combination of factors are represented in
boxes. It was developed by a British geneticist, Reginald C. Punnett.
10.Dominant- The factor that expresses when a pair of dissimilar factors comes together is called
dominant.
11.Recessive – The factor that does not express when a pair of dissimilar factors comes together is
called recessive.
12.Monohybrid- Plants which are heterozygous for genes controlling one character is called
monohybrid.
13. Dihybrid-Plants which are heterozygous for genes controlling two characters is called dihybrid.
INHERITANCE OF ONE GENE (MONOHYBRID CROSS)
Schematic representation of Monohybrid crosses in pea plant
Parents Pure breeding tall plant Pure breeding dwarf plant
Genotype TT tt

T t

T
TT Tt
Tall Dwarf
t Tt tt
Tall Dwarf

Phenotypic ratio: 3:1 (3 tall plant, 1 short plant)

Genotypic ratio: 1:2:1 (1 homozygous tall, 2 heterozygous tall and 1 homozygous dwarf plant)
 Mendel crossed true line tall plant and pure line dwarf pea plants.
 In F1 progeny the two factors come together (T and t). Only T is expressed. The plants develop
in to tall (heterozygous) plants. It is due dominance.
 Mendel allowed the plants of F1 progeny to undergo self pollination. During formation of
gametes T and t segregate and enters into separate gametes without blending.
 In F2 progeny ¼ of the plants are homozygous tall, ½ of the plants are heterozygous tall and ¼
of the plants are homozygous dwarf.

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Principles of inheritance
 Based on monohybrid cross Mendel proposed two rules called laws of inheritance.
 The first law of inheritance is called Law of Dominance.
 The second law of inheritance is called Law of Segregation.
Law Of Dominance
Based on F1 generation of monohybrid cross Mendel proposed Law of dominance. It states that
 Characters are controlled by discrete units called factors.
 Factors occur in pairs
 When two factors for opposite traits or contrasting character come together, one factor
dominates the other.
Dominance and recessive-The factor that is expressed in a hybrid is called dominant factor and the
factor that is not expressed is called recessive factor. The dominant factor is represented by
capital letter (Eg: - T – tall) and the recessive factor represented by small letter. (eg:- t -
dwarf)
Law Of Segregation
 This law states that when two factors of opposite traits come together(Tt) in F1 generation,
segregate during gamete formation and enter into different gametes without mixing or blending.
 Hence half of the gametes contain(T) and half of the gametes contain (t).
Binomial Expression Of Genotypic Ratio
 The 1/4 : 1/2 : 1/4 ratio of TT: Tt: tt is mathematically condensable to the form of the binomial
expression (ax +by)2, that has the gametes bearing genes T or t in equal frequency of ½.
 The expression is expanded as given below :
(1/2T + 1/2 t)2 = (1/2T + 1/2t) X (1/2T + 1/2t) = 1/4 TT + 1/2Tt + 1/4 tt
INCOMPLETE DOMINANCE
Parents Red flower White flower
Genotype RR rr
Gametes R r
Cross pollination
F1 offspring
Rr Heterozygous pink flower
Self pollination Rr Rr

Gametes R r R r

F2 Generation
RR Rr Rr rr

Red Pink Pink White

Phenotypic ratio = 1:2:1 Genotypic ratio = 1:2:1
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  Incomplete expression of dominant allele in the presence of recessive allele which results in an
intermediate character or a new phenotype is called incomplete dominance.
 This was proposed or proved by Carl Correns.
 Incomplete dominance is found in flower colour of Snapdragon (dog flower or Antirrhinum sp.).
There are two types of plants a) White flower producing plants. b) Red flowerproducing plants.
 Correns crossed red flower producing plant with white flower producing plant, in F1 generation
red colour character fail to dominate completely and a new phenotype i.e. pink colour flower
producing plants are obtained.
 Later he allowed the plants of F1 generation to undergo self pollination, in F2 generation 3 types
of plants are obtained. ¼ of plants produce red flowers, ½ of plants produce pink flowers and ¼
of plants produce white flowers. The genotypic and phenotypic ratios are same.
Characters of modified allele
 The modified allele could be responsible for production of –
1. The less efficient enzyme, or
2. A non-functional enzyme, or
3. No enzyme at all
Starch synthesis in Pea plant (Incomplete dominance in pea plant)
 Starch synthesis in pea seeds is controlled by one gene. It has two alleles B and b.
 Homozygote with BB starch is synthesized effectively and therefore, large starch grains are
produced.
 Homozygote with bb has lesser efficiency in starch synthesis and produce smaller starch
grains.
 At maturation BB produce round seed and bb produce wrinkle seed.
 Heterozygote with Bb will produce round seed but starch grains produced are of
intermediate size.
 So if starch grain size is considered as the phenotype, then the alleles show incomplete
dominance.
MULTIPLE ALLELISM AND CODOMINANCE
 More than two alleles determining a character in different individual are called multiple alleles
the phenomenon is called multiple allelism. Ex- Human blood groups.
 When two alleles are dominant and express equally, the phenomenon is called co dominance.
Ex- AB blood group
Inheritance Of Blood Group
 The blood groups are controlled by a gene Isoagglutinogen gene. It is represented by letter I.
 ‘I’ gene codes for sugar polymer present on the surface of RBC. It acts an antigen.
 Gene I has three alleles to determine the four blood groups. They are IA, IB and i.
 Humans are diploid and blood group in each individual is determined by only two alleles .
 The allele IA codes for sugar polymer called antigen A and allele IB codes for similar sugar
polymer called antigen B.
 Allele i does not code for any sugar polymer.
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  IA and IB are dominant over i.
 When IA comes with IA or i, then there will be A blood group.
 When IB comes with IB or i, then there will be B blood group.
 When IA and IB come together, both alleles are dominant and express equally and blood
group will be AB.
 When both alleles are dominant and express equally the phenomenon is called co-dominance.
 When ‘i’ comes with ’i’ in homozygous condition, there will be O blood group.
BLOOD GROUPS AND GENOTYPES
BLOOD GROUPS GENOTYPE
A A A
A I I ,I i
B B B
B I I ,I i
A B
AB II
O i i
Example for inheritance of blood groups
1. If both parents are A blood group the possible blood groups in children are A and O blood
groups. The blood groups that are not possible are AB and B blood groups.
Schematic representation
Parents A blood group A blood group
A A
Genotype I i I i
A i A
Gametes I I i

A A A A
Next generation II I i I I i i

A A A O
DIHYBRID CROSS
Schematic representation of Dihybrid cross
Parents Round seed and yellow cotyledon wrinkle seed and green cotyledon
Genotype RRYY rryy

Gametes
RY ry

Cross pollination

F1 Generation RrYy Heterozygous round and yellow

Self pollination
RrYy RrYy

Gametes
RY Ry rY ry RY Ry rY ry
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 RY Ry rY ry
RY RRYY RRYy RrYY RrYy
Round & yellow Round & yellow Round & yellow Round & yellow
Ry RRYy RRyy RrYy Rryy
Round & yellow Round & green Round & yellow Round & green
rY RrYY RrYy rrYY rrYy
Round & yellow Round & yellow Wrinkled & Wrinkled & yellow
yellow
ry RrYy Rryy rrYy rryy
Round & yellow Round & green Wrinkled & Wrinkled & green
yellow
Phenotypic ration: 9:3:3:1 Genotypic ratio : 1:2:2:4:1:2:1:2:1
Explanation to Dihybrid Cross (Two genes inheritance)
 A cross between 2 pure breeding plants differing in 2 pairs of contrasting characters is called a
dihybrid cross.
 When a pea plant with round and yellow seed is crossed with a pea plant containing wrinkled
and green seed, only one type of plant with round and yellow seed is produced in f1
generation.
 The four factors come together in F1 generation (RrYy). During formation of gametes one pair
of factor segregate independently of another pair hence four types of gametes are produced.
 When plants of f1 generation allowed for self pollination 4 types of plants are obtained in f2
generation in 9:3:3:1 ration 4 type of plants are:-
1.Round seed and yellow cotyledon – 9
2.Round seed and green cotyledon - 3
3. Wrinkled seed and yellow cotyledon – 3
4.Wrinkled seed and green cotyledon - 1
Phenotypic ratio – 9:3:3:1 Genotypic rations 1:2:2:4:1:2:1:2:1
Finding the phenotypic ratio of Dihybrid cross
 The ratio of 9:3:3:1 can be derived by multiplying the phenotypic ratio of two monohybrid
crosses
 This derivation can be written as follows:
(3 Round : 1 Wrinkled) (3 Yellow : 1 Green) = 9 Round, Yellow : 3 Wrinkled, Yellow: 3 Round,
Green : 1 Wrinkled, Green)
Law of independent assortment
 Based on Dihybrid cross Mendel proposed law of independent assortment
 The law states that when two pairs of factors combined in a hybrid(RrYy), segregation of one
pair of factor is independent of other pair of factor
TEST CROSS
 Cross between dominant phenotype and recessive parent is called test cross.
 It is conducted to find out the genotype of test organism(dominant phenotype).
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Monohybrid test cross
Homozygous Recessive Homozygous Recessive
White flower ww Violet flower White flower ww
w w w w

W
Ww Ww WW Dominant phenotype Ww W Ww Ww
Violet Violet Violet Violet

Ww Ww W w ww Ww
Violet Violet (Genotype is unknown) White White

 In monohybrid test cross genetically unknowon plant is crossed with recessive plant.
 If only one type of plants (Violet flowers) are produced after test cross then the unknown plant is
homozygous.

 If two types of plants are produced(Violet and white flowers)in 1:1 ratio after test cross the then the
unknown plant is heterozygous.
Rediscovery of Mendelian principles
 Mendel published a paper on these laws in 1865.But these laws were gone unnoticed by the
scientific world.
 The reasons are
1. Communication was not easy in those days. His theories were not published widely.
2. Factors are stable and do not blend. This concept was not accepted by biologist. Because
continuous variations are found in nature (organisms)
3. He could not provide any physical proof for the existence of factors
4. Mendel’s approach of using mathematics to explain biological phenomena was totally new
and unacceptable to many of the biologists of his time
 His principles were rediscovered by Hugo de vries (Holland), Correns (Germany), Tschermak
(Austria) in 1900. Due to the work of Mendel he is considered as Father of Genetics.
 At this period there was maximum work on microscopy. By using microscope scientists
discovered nucleus and chromosome.
 In 1902, Walter Sutton and Theodore Boveri studied the chromosome movement during
meiosis and identified the behaviour of chromosomes was parallel to the behaviour of
mendilian factors.
CHROMOSOMAL THEORY OF INHERITANCE
 This theory was proposed by Sutton after combining the knowledge of chromosomal behavior
and Mendelian principle
 This theory is also called Boveri–Sutton chromosome theory

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  This theory states that the two alleles of gene present on the homologous sites of homologous
chromosomes.
 It also states that chromosomes are the carriers of factors or genes from generation to
generation
 Sutton and Boveri studied the similarities between the transmission of factors and
chromosomal behavior.
 The similarities between the movement of factors and chromosomal behaviour are
Factors Chromosomes
1. Occur in pairs 1. Occur in pairs
3. Segregate at the time of gamete formation 3. Separate at the time of gamete formation
4. One of each pair enters in to a gamete 4. One of each pair enters in to a gamete.
5.one pair segregates independently of 5. One pair segregates independently of
another pair. another pair
PLEIOTROPHY
 A single gene that can exhibit more number of phenotypic expression is called pleotrophic
gene.
 Phenylketonurea is an example of pleiotrophy.
 It is caused due to mutation in the gene that codes for the enzyme phenyl alanine hydroxylase.
 The mutated gene affects the metabolic pathway which results in change in phenotypes.
 Some of the phenotypes that are chnged are
a.Mental retardation
b.Reduction in hair
c. Reduction in skin pigmentation.

POLYGENIC INHERITANCE
 Characters controlled by three or more genes are called polygenic traits or poygenic
characters. Such genes are called polygenic genes.
 Inheritance of such characters is called polygenic inheritance. It is also called Quantitative
inheritance.
 In this inheritance is controlled by many genes in which each gene has its effect.
 Height and Skin color in humans are the best examples for polygenic character.
Inheritance of skin color
 Skin color is controlled by three separate genes located on 3 different loci.
 All the dominant alleles of three genes (AABBCC) produce dark skin colour.
 All the recessive alleles of three genes (aabbcc) produce light skin colour.
 When three dominant alleles and three recessive alleles come together there will be
intermediate skin colour(mulatto).
 The number of each type of allele in the genotype will determine the darkness or lightness.

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 LINKAGE AND RECOMBINATION
 Genes controlling different characters present on the same chromosome are called linked
genes and inheritance of such genes is called Linkage.
 Such linked genes enter into next generation together and do not assort independently.
 But linked genes are also separated during crossing over.
 If the genes are placed very close to each other on the same chromosome then in the next
generation there will be more parental combination and less recombinant. Such genes are
called strongly linked genes or tightly linked genes.
 If the genes are placed at a distance on the same chromosome then in the next generation
there will be less parental combination and more recombinant. Such genes are called weakly
linked genes or loosely linked genes.
 The strength of linkage is dependent on the distance between the genes on a chromosome.
 Formation of non parental type due to crossing over is called Recombination.

MORGAN’S EXPERIMENTS
 Morgan conducted several dihybrid crosses on drosophila and discovered sex linked genes and
linkage.
 He crossed brown bodied and red eyed males (Wild type) with yellow bodied white eyed
female.
 Later they inter crossed their F1 offspring. In F2 generation two genes did not separate
independently and the phenotypic ratio deviated from 9:3:3:1.
 The proportion of parental type was much higher than non parental type.
 Based on this result Morgan stated that genes are present on same chromosome and coined
the term linkage.
Case I
 Morgan crossed Male Drosophila containing brown body and red eye (wild) with female
drosophila containing yellow body and white eye (mutant)
 In F1 generation brown body and red eye was found in female offspring and yellow body and
white eye was found in female offspring.
 In F2 generation the phenotypic ratio deviated from 9:3:3:1 ratio
 He found that recombination in color of the body and eye colour showed only 1.3%
recombination. This shows that the genes for colour of body and eye colour are tightly linked.

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Case I
Parents Drosophila with Brown body and Drosophila with Yellow body and
Red eye O White eye O
Genotype y+ y y
W+ w w
Gametes
y+ Y
Crossing w+ w

Next generation y+ y y
w+ w w
Female with Brown body Male with yellow body
And red eye white eye
Gametes y+w+ y+w yw+ yw yw
F2 generation y+yw+ w y+yww yyw+w yyww Females offspring
y+w+ y+w yw+ yw Male offspring

Brown & White Yellow & White

Brown & Red Yellow & Red
Non parental type or recombinants -1.3%
Case II
Parents Drosophila with long wing and Drosophila with miniature wing and
Red eye O white eye O
Genotype m+ m m
w+ w w
Gametes
m+ m
Crossing w+ w

Next generation m+ m m
w+ w w
Female with long wing Male with miniature wing
and red eye and white eye
Gametes m+w+ m+w mw+ mw mw
F2 generation m+mw+ w m+mww mmw+w mmww Females offspring
y+w+ y+w yw+ yw Male offspring

Long wing & White Miniature wing & White

Long wing & Red Miniature wing & Red

Non parental type or recombinants -37.2%

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Case 2
 Morgan crossed Male Drosophila containing Long wing and red eye (wild) with female drosophila
containing miniature wing and white eye (mutant)
 In F1 generation long wing and red eye was found in female offspring and miniature wng and
white eye was found in female offspring.
 In F2 generation the phenotypic ratio deviated from 9:3:3:1 ratio
 He also found recombination in color of eye and wing size showed 37.2% recombination. This
shows the genes for eye colour and wing size are loosely linked genes
Differences between strongly linked genes and Weakly linked genes
Strongly linked genes Weakly linked genes
1.Genes present close together 1.Genes present far from each other
2. Less recombinants are produced 2. More recombinants produced
3. Genes for Body color and eye color in Drosophila 3.Genes for Wing size & Eye color

Thomus Hunt Morgan selected Drosophila for his experiment due to following reasons
 They could be grown on simple synthetic medium in the laboratory.
 They complete their life cycle in about two weeks,
 A single mating could produce a large number of progeny flies.
 Clear differentiation of the sexes – the male and female flies are easily distinguishable.
 It has many types of hereditary variations that can be seen with low power microscopes.
Contributions of Morgan to Genetics
 Discovered sex linked character by conducting dihybrid cross on Drosophila.
 Coined the term linkage for physical association of genes on the chromosome.
 Coined the term recombination for the generation with non-parental gene combination
 Discovered and coined the term tightly linked genes which showed very low recombination.
 Discovered and coined the term loosely linked genes which showed higher recombination.
 He identified yellow body and white eye were tightly linked and showed 1.3% recombination.
 He also identified miniature wing and white eye were loosely linked and showed 37.2%.
 His student Alfred Sturtevant used the recombination frequency as a measure of the distance
between genes and ‘mapped’ their position on the chromosome
Differences between linkage and recombination
Linkage Recombination
1. Physical association of genes on the 1. Generation with non parental gene
chromosome. combination.
MUTATIONS
 Alteration of DNA sequences which results in changes in phenotype and genotype of an
organism is called mutation.
 Recombination and mutation are the two major causes for variations in DNA.
Chromosomal mutations
 Loss(deletion) or gain(duplication) of a segment of DNA leads to alteration in chromosome.

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  Alteration in chromosomes is called chromosomal mutation or chromosomal aberrations.
 Chromosomal aberrations results in abnormalities.
 Such mutations occur in cancer cells.
Point mutation
 Change in single base pair of DNA is called point mutation.
Ex- Sickle cell anaemia
Frame Shift mutation
 Mutation that involves deletion or addition of a single base pair of DNA is called frame shift
mutation
Genomic mutations
 Change in chromosomal number by complete set or by one or two chromosomes is called
genomic mutation or chromosomal abberation. There are two types
Aneuploidy –
 Change in chromosomal number due to gain or loss of a chromosome is called
aneuploidy
 It occurs due to failure of segregation of chromatids during cell division
 For example, Down’s syndrome
Polyploidy –
 Increase in a whole set of chromosomes in an organism is called polyploidy.
 It occurs due to failure of cytokinesis after telophase stage of cell division
 This condition seen in plants.

MUTAGENS
 Factors which cause mutations are called are called mutagens. Mutagens may be physical factors
or chemical factors. Ex – UV radiations

GENETIC DISORDERS
Diseases which are inherited from parents to off springs are called genetic disorders/disease. They
are of 2 types. 1. Chromosomal disorder 2. Gene disorder
CHROMOSOMAL DISORDERS
Chromosomal disorders are the disorder caused due to change in chromosomal number.
Down’s syndrome
st
 It is a type of genetic disorder caused due to presence of extra 21 chromosome. It is an
example for autosomal trisomy.
 It was first described by Langdon Down(1866)
st st
 Due to presence of extra 21 chromosome this syndrome is called 21 trisomy.
 Chromosomal number is 47.
 The chromosomal complement or karyotype is 45 AA + xx or 45 AA + xy.
 It occurs in both males and females.

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  It is caused due to fusion of non disjunct gamete with a normal gamete. The non disjunct
st
gamete is formed due to failure in separation of 21 pair of homologous chromosomes.
Symptoms
1. Small and round head and Broad flat face
2. Big and wrinkled tongue and partially open mouth
3. Many “loops” on finger tips.
3. Palm crease and congenital heart disease
5. Short stature
6. Physical, psychomotor and mental development is retarded
KLINEFELTER’S SYNDROME
 It is a genetic disorder and allosomal aneuploidy.
 In this syndrome there is an extra x- chromosome in males hence it is called allosomal trisomy.
 The chromosomal number is 47 and chromosomal complement is 44 AA + xxy.
 It is caused due to failure in separation of allosomes during formation of gametes in parents.
 It occurs due to fusion of non-disjunct sperm (22A + xy) with normal ovum (22A+x) .
 It can also occur due to fusion of non disjunct ovum (22A + xx) with normal sperm (22 A + Y).
Symptoms
1. They are sterile males. 2. Feminine features that is development of breast (gynecomastia)
3. Testes are not well developed 4. Tall stature.
TURNER’S SYNDROME
 It is a genetic disorder and an allsosomal aneuploidy and monosomic condition.
 In this syndrome one x- chromosome is absent in females.
 The chromosomal number is 45.
 Chromosomal complement is 44AA + XO.
 It occurs due to fusion of non disjunct sperm (22A + O) with normal ovum (22A + x). It also
occurs due to fusion of non disjunct ovum (22A + O) with a normal sperm (22A + x)
Symptoms
1. Sterile females 2. Ovaries are not well developed or rudimentary
3. Lack of other secondary sexual characters
4. Short stature.
GENE DISORDERS OR MENDELIAN DISORDERS
 Disorders caused due to defective genes are called gene disorders.
 Defective gene is formed by process called mutation. Mutation is a sudden change in gene
composition. Mutation can be induced or spontaneous.
 The disorders which are transmitted from parents to offspring and follow the Mendelian
principles or Principle of inheritance are called Mendelian disorders. Ex- Haemophilia, Cystic
fibrosis, Sickle-cell anaemia,Colour blindness, Phenylketonuria, Thalessemia etc,
Sickle cell anemia
 It is an autosomal recessive gene disorder.

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  It is caused due to substitution of glutamic acid by valine at 6 th position of beta globin chain of
haemoglobin.
 The substitution of amino acid is due to substitution of a single base pair at sixth codon from
GAG to GUG.
 Due to presence of valine the haemoglobin becomes defective. The defective Hb undergoes
polymerization at low oxygen tension.
 The polymerisation changes the shape of RBC from biconcave to sickle shaped RBC.
Inheritance
 The disease is controlled by a pair of allleles. Normal Allele is represented as HbA and defective
allele represented by HbS.
 Three genotypes are possible. They are HbA HbA, HbA HbS and HbS HbS.
 The disease is expressed only in homozygous condition and not expressed in heterozygous
condition. They are called carriers.
 It occurs in children when both parents are heterozygous.

PHENYLKETONUREA
 It is an inborn disorder caused due to defective metabolism of amino acid.
 It is also an autosomal recessive gene disorder.
 It is caused due to absence of an enzyme that converts Phenyl alanine into tyrosine.
 Due to this Phenyl alanine is broken down in to phenyl pyruvic acid and other derivatives.
 These are also excreted in urine because of poor absorption in kidney.
 Accumulation of phenyl pyruvic acid and other derivatives in brain leads to mental retardation.
THALASSEMIA
 This is an autosomal recessive gene disease.
 In this there is reduced production of haemoglobin . Hence it is quantitative problem and sickle
cell anemia is qualitative problem.
 The defect due to mutation of the haemoglobin gene which results in reduced rate of synthesis
of one of the globin chains (alpha chain and beta chain) in haemoglobin
 It occurs in children when both parents are heterozygous.
 Thalassemia is classified in to

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 1.Alpha thalassemia- Production of alpha chain of haemoglobin is affected. It is controlled by
linked genes HBA1 and HBA2 on chromosome 16
2.Beta thalassemia- Production of beta chain of haemoglobin is affected. It is controlled by a
single gene HBB on chromosome 11.
HAEMOPHILIA
 It is a sex linked recessive gene disorder
 It occurs when a single protein (VIII factor) involved in blood clotting is affected.
 Due to this in affected individual a simple cut leads to non stop bleeding. (Delayed blood
clotting).
Inheritance
 Presence of one defective gene on X chromosome in males causes haemophilia.
 Presence of defective gene on one of the X chromosome in female does not cause
Haemophilia(XhX) due to presence of normal gene(dominant) on other X chromosome. Such
female is called carrier.
 The heterozygous female (carrier) for haemophilia transmits the disease to sons.
 The possibility of a female becoming a haemophilic is extremely rare because mother of such a
female has to be carrier and the father should be haemophilic (unviable in the later stage of
life)
 Queen Victoria was a carrier of the disease. Most of her sons suffered from this disease.
COLOUR BLINDNESS
 It is a sex-linked recessive disorder. The defective gene present on X chromosome.
 Due to presence of defective gene there is defect in either red or green cone of eye. Hence the
person fails to discriminate between red and green colour.
Inheritance
 Colour blindness occurs in about 8 per cent of males and only about 0.4 per cent of females.
 It occurs more in males than in females. This is because the defective gene is present on X
chromosome
 Males have only one X chromosome and females have two X chromosomes.
 Presence of one defective gene on the X chromosome causes the disease.
 Presence of defective gene on one of the X chromosome in female does not cause in color
blindness. Due to presence of normal gene on other X chromosome. Such females are called
carriers.
 Color blindness occurs in females only when defective genes are present on both X
chromosomes.
 If a woman is a carrier 50percent of her son will be color blind.
 A daughter will be color blind only when her father is color blind and mother is a carrier.
PEDIGREE ANALYSIS
 Analysis of inheritance characters in several generations of a family is called Pedigree analysis.
 It is utilized to trace the inheritance of specific character or genetic disease for two or more
generations.
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  It is used by genetic counselors to advice the couple about the possibility of having children
with genetic disease or defects.
 In pedigree the following symbols are used
- Normal Male
- Normal Female
- Sex unspecified
- Affected individuals
- Marriage/Mating
- Marriage between relatives (Consanguineous)
-
Parents
-Offspring
- Carrier female
- Heterozygous female
Autosomal dominant inheritance (trait)
a. Such characters seen every generation.
b. Seen in both males and females
c. It can be the inheritance of Myotonic dystrophy or polydactyly or
widow’s peak

Autosomal recessive (trait) inheritance

a. It is an inheritance of autosomal recessive disorder or character
b. It is not expressed in heterozygous condition.
c. It occurs in both male and females.
d. It may not expressed in all generations.
e. It can be the inheritance of sickle cell anaemia, albinism or phenyl ketonurea
SEX DETERMINATION
 Henkig discovered X chromosome and named it as X body. He could not explain its significance.
 There are different types of sex determination. Some of them are Chromosomal and
environmental sex determination.
 In chromosomal sex determination the sex of the organism depends on chromosomes called
allosomes
 Some of the chromosomal sex determination are – a) XX- XY type b) ZZ-ZW type C)XX-XO type
d)Haplodiploid type
XX- XY TYPE OF SEX DETERMINATION
 It is found in human beings and drosophila.
 Male have one X and one Y chromosomes along with autosomes.
 Female have two X chromosomes. Females produce only one type of ova. All ova contain X
chromosome. Hence it is called female homogemety.
 Males produce two types of sperms. 50% of sperms contain X chromosome and 50% of the
sperms contain Y chromosome. Hence it is called male heterogamety.
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  When the sperm containing X chromosome fertilizes ova the zygote develops into female.
When sperm containing Y chromosome fertilizes ova the zygote develops into male.

XX- XO TYPE OF SEX DETERMINATION

 It is found in Grasshoppers.
 Male contain only one X chromosome and females contain two X chromosomes.
 Males produce two types of sperms. 50% of the sperms contain X chromosome and other 50%
donot contain allosome.
 Females produce only one type of ova. All ova contain X chromosome.
 The sex of the offspring depends on sperm that fertilizes the ova. If the sperm contains X
chromosome the zygote develops in to female.
 If the sperm does not contain any allosome the zygote develops in to male.
ZZ- ZW TYPE OF SEX DETERMINATION
 It is found in birds. There are two allosomes. They are Z chromosome and W chromosome.
 Males contain two Z chromosomes and females contain one Z chromosome and one W
chromosome.
 Females produce two types of ova. 50% of ova contain Z chromosome and 50% of the ova
contain W chromosome. Hence it is called female heterogamety.
 Males produce one type of sperms. All sperms contain Z chromosome. Hence males are called
Homogametic.
 When sperm fertilizes ova containing Z chromosome the zygote develops into male(ZZ). When
sperm fertilizes ova containing W chromosome the zygote develops into female (ZW).
 The sex of the offspring in birds depends on the ova. Hence in birds females determine the sex
of the offspring.
SEX DETERMINATION IN HUMAN BEINGS
 It is XX – XY type of sex determination
 There are 23 pairs of chromosomes in humans(2n-46). 22 pairs are autosomes and one pair
allosomes.
 Females contain 22 pairs of autosomes and two X chromosomes and male contain 22 pairs of
autosomes one X chromosome and one Y chromosome.
 Females produce only one type of ova. All ova contain 22 autosomes and X chromosome.
Hence it is called female homogemety.
 Males produce two types of sperms. 50% of sperms contain 22 autosomes and one X
chromosome and 50% of the sperms contain 22 autosomes and one Y chromosome. Hence it is
called male heterogamety.
 When the sperm containing X chromosome fertilizes ova the zygote develops into female.
When sperm containing Y chromosome fertilizes ova the zygote develops into male.
 The sex of the offspring in humans depends on the sperm that fertilizes ova. Hence in humans
males determine the sex of the children.

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HAPLO-DIPLOID TYPE OF SEX DETERMINATION
 This type of sex determination is found in Honey bees.
 It is based on the number of sets of chromosomes an individual receives.
 Offspring formed after fusion of sperm and ova develops in to female(Queen or worker).
 Off spring formed from unfertilized egg develops by parthenogenesis in to male (Drone).
 Males are haploid containing 16 chromosomes and females are diploid containing 32
chromosomes.
 Males produce sperms by mitosis an females produce ova by meiosis.
 Males do not have father and hence cannot have son but have grandfather and grandson.
 Drones are fertile males and Workers are smaller and sterile females.
 Queens are fertile females and are larger in size with reduced mouth parts. These develop in
larger cells of comb found near the edge.
 If the larvae of fertilized egg continue to feed on royal jelly the larva develops into queen.

Prepared by Babu Rajendra Kumar

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