ANMOL SHARMA LIVE

Principles of Inheritance and Variation

IMPORTANT TERMS (True breeding). E.g. TT, tt, YY, yy etc.

• Genetics: Study of inheritance, heredity and variation of • Heterozygous: The condition in which chromosome pair
characters or Study of genes and chromosomes. carries dissimilar alleles of a gene. E.g. Tt, Yy etc.
• Inheritance: Transmission of characters from parents to • Dominant character: The character which is expressed in
progeny. It is the basis of Heredity. heterozygous condition. It indicates with capital letter.
• Variation: Difference between parents and offspring. • Recessive character: The character which is suppressed in
• Character: A heritable feature among the parents & heterozygous condition. It indicates with small letter.
offspring. E.g. Eye colour. • Phenotype: Physical expression of a character.
• Trait: Variants of a character. E.g. Brown eye, Blue eye. • Genotype: Genetic constitution of a character.
• Allele: Alternative forms of a gene. E.g. T (tall) and t • Hybrid: An individual produced by the mating of
(dwarf) are two alleles of a gene for the character height. genetically unlike parents.
• Homozygous: The condition in which chromosome pair • Punnett square: A graphical representation to calculate
carries similar alleles of a gene. Also known as pure line probability of all genotypes of offspring in a genetic cross.

MENDEL’S LAWS OF INHERITANCE

Gregor Mendel is the Father of genetics. The F1 (Tt) when self-pollinated, produces gametes T and t
He conducted some hybridization experiments on garden peas in equal proportion. During fertilization, pollen grains of T
(Pisum sativum) for 7 years (1856-1863). have 50% chance to pollinate eggs of T & t. Also, pollen
Steps in making a cross (Deliberate mating) in pea: grains of t have 50% chance to pollinate eggs of T and t.
§ Selection of 2 pea plants with contrasting characters. 1/4th of the random fertilization leads to TT (¼ TT).
§ Emasculation: Removal of anthers of one plant to avoid 1/2 (2/4) of the random fertilization leads to Tt (½ Tt).
self-pollination. This is female parent. 1/4th of the random fertilization leads to tt (¼ tt).
§ Pollination: Collection of pollen grains from the male Tt x Tt
parent and transferring to female parent. Binomial expression = (ax + by) 2
§ Collection & germination of seeds to produce offspring. Hence (½ T + ½ t) 2 = (½ T + ½ t) (½ T + ½ t)
Mendel selected 7 pairs of true breeding pea varieties: = ¼ TT + ¼ Tt + ¼ Tt + ¼ tt
Contrasting Traits = ¼ TT + ½ Tt + ¼ tt
7 Characters
Dominant Recessive
1. Stem height Tall Dwarf Mendel self-pollinated the F2 plants. He found that dwarf F2
2. Flower colour Violet White plants continued to generate dwarf plants in F3 & F4. He
3. Flower position Axial Terminal concluded that genotype of the dwarfs was homozygous- tt.
4. Pod shape Inflated Constricted
5. Pod colour Green Yellow
Backcross and Testcross
6. Seed shape Round Wrinkled § Backcross: Cross between a hybrid and its any parent.
7. Seed colour Yellow Green § Testcross: Crossing of an organism with dominant
INHERITANCE OF ONE GENE phenotype to a recessive individual. E.g.
Monohybrid cross: A cross involving 2 plants differing in Hence
one character pair. E.g. Mendel crossed tall and dwarf pea monohybrid
plants to study the inheritance of one gene. test cross ratio=
Monohybrid phenotypic ratio: 1:1
3 Tall: 1 Dwarf = 3:1 Test cross is used to find out the unknown genotype of a
Monohybrid genotypic ratio: character. E.g.
1 Homozygous tall (TT)
2 Heterozygous tall (Tt)
1 Homozygous dwarf (tt)
= 1:2:1
Mendel made similar
observations for other pairs of
traits. He proposed that some
factors were inherited from
parent to offspring. Now it is called as genes. All violet: Unknown flower 50% violet, 50% white:
Do not use T for tall and d for dwarf because it is difficult is homozygous dominant Unknown flower is heterozygous
to remember whether T & d are alleles of same gene or not. Mendel conducted test cross to determine the F2 genotype.

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Mendel’s Principles or Laws of Inheritance Round & wrinkled seed shape also segregated in a 3:1 ratio.
1. First Law (Law of Dominance) Dihybrid Phenotypic ratio= 9 Round yellow: 3 Round
§ Characters are controlled by discrete units called factors. green: 3 Wrinkled yellow: 1 Wrinkled green = 9:3:3:1
§ Factors occur in pairs. The ratio of 9:3:3:1 can be derived as a combination series of
§ In a dissimilar pair of factors, one member of the pair 3 yellow: 1 green, with 3 round: 1 wrinkled.
dominates (dominant) the other (recessive). i.e. (3: 1) (3: 1) = 9: 3: 3: 1
2. Second Law (Law of Segregation)
Dihybrid genotypic ratio: 1:2:1:2:4:2:1:2:1
“During gamete formation, the factors (alleles) of a
RRYY =1 RRYy =2 RrYY =2
character pair present in parents segregate from each other
RrYy =4 RRyy =1 Rryy =2
such that a gamete receives only one of the 2 factors”. rrYY =1 rrYy =2 rryy =1
Homozygous parent produces similar gametes.
Mendel’s 3rd Law: Law of Independent Assortment
Heterozygous parent produces two kinds of gametes.
- It is based on the results of dihybrid crosses.
INHERITANCE OF TWO GENES - It states that “When two pairs of traits are combined in a
Dihybrid cross: It is a cross between two parents differing in hybrid, segregation of one pair of characters is independent
2 pairs of contrasting characters. E.g. Cross b/w pea plant of the other pair of characters”.
with homozygous round shaped & yellow coloured seeds The concept of dominance
(RRYY) and wrinkled shaped & green coloured seeds (rryy).
- Every gene contains information to express a particular trait.
Parents: RRYY X rryy - In heterozygotes, there are 2 types of alleles:
Gametes: RY ry o Unmodified (normal or functioning) allele: It is
generally dominant and represents original phenotype.
F1: RrYy (Round yellow) o Modified allele: It is generally recessive.
Selfing: RrYy X RrYy - E.g. Consider a gene that contains information for producing
Gametes: RY Ry rY ry RY Ry rY ry an enzyme. Normal allele of that gene produces a normal
enzyme. Modified allele is responsible for production of
(i) Normal/less efficient enzyme or
(ii) A non-functional enzyme or
(iii) No enzyme at all
F2: In the first case: The modified allele will produce the same
phenotype like unmodified allele. Thus, modified allele is
equivalent to unmodified allele.
In 2nd and 3rd cases: The phenotype will dependent only on
On observing the F2, Mendel found that yellow and green the functioning of the unmodified allele. Thus the modified
colour segregated in a 3:1 ratio. allele becomes recessive.

OTHER PATTERNS OF INHERITANCE (NON-MENDELIAN INHERITANCE)

1. Incomplete Dominance 2. Co-dominance
- It is an inheritance in which heterozygous offspring shows - It is the inheritance in which both alleles of a gene are
intermediate character b/w two parental characteristics. expressed in a hybrid. E.g. ABO blood grouping in human.
- E.g. Flower colour in snapdragon (dog flower or - ABO blood groups are controlled by the gene I.
Antirrhinum sp.) and Mirabilis jalapa (4’O clock plant). - This gene controls the production of sugar polymers
Here, cross between (antigens) that protrude from plasma membrane of RBC.
homozygous red & - The gene I has three alleles IA, IB & i.
white produces pink - IA and IB produce a slightly different form of the sugar
flowered plant. Thus while allele i doesn’t produce any sugar.
phenotypic & genotypic Alleles from Alleles from Genotype of Blood types
parent 1 parent 2 offspring (phenotype)
ratios are same. A
IA IA IA IA
Phenotypic ratio= IA IB IA IB AB
1 Red: 2 Pink: 1 White IA i IAi A
IB IA IA IB AB
Genotypic ratio= IB IB IB IB B
1 (RR): 2 (Rr): 1(rr) IB i IBi B
i i ii O
This means that R was
not completely dominant over r. When IA and IB are present together, they both express their
- Pea plants also show incomplete dominance in other traits. own types of sugars. This is due to co-dominance.

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3. Multiple allelism - Thus, number of each type of alleles determines the

- It is the presence of more than two alleles of a gene to darkness or lightness of the skin.
govern same character. 5. Pleiotropy
- E.g. ABO blood grouping (3 alleles: IA, IB & i). - Here, a single gene exhibits multiple phenotypic
- In an individual, only two alleles are present. Multiple expressions. Such a gene is called pleiotropic gene.
alleles can be found only in a population. - In most cases, the mechanism of pleiotropy is the effect of
4. Polygenic inheritance a gene on metabolic pathways which contributes towards
- It is the inheritance in which some traits are controlled by different phenotypes.
several genes (multiple genes). - E.g. Starch synthesis in pea, sickle cell anaemia,
- E.g. human skin colour, human height etc. phenylketonuria etc.
- It considers the influence of environment. - In Phenylketonuria & sickle cell anaemia, the mutant gene
- In a polygenic trait, the phenotype reflects the contribution has many phenotypic effects. E.g. Phenylketonuria causes
of each allele, i.e., the effect of each allele is additive. mental retardation, reduction in hair and skin pigmentation.
Human skin colour: Starch synthesis in pea plant:
- Assume that 3 genes A, B, C control human skin colour. - Starch is synthesized effectively by BB gene. Therefore,
The dominant forms A, B & C responsible for dark skin large starch grains are produced. bb have lesser efficiency
colour and recessive forms a, b & c for light skin colour. in starch synthesis and produce smaller starch grains.
- Genotype with all the dominant alleles (AABBCC) gives - Starch grain size also shows incomplete dominance.
darkest skin colour.
Genotype with all the recessive alleles (aabbcc) gives
lightest skin colour.
Therefore, genotype with 3 dominant alleles and 3
recessive alleles gives an intermediate skin colour.

CHROMOSOMAL THEORY OF INHERITANCE

Mendel’s work remained unrecognized till 1900 because,
§ Communication was not easy.
§ His mathematical approach was new and unacceptable.
§ The concept of genes (factors) as stable and discrete units
could not explain the continuous variation seen in nature.
§ He could not give physical proof for the existence of factors.
In 1900, de Vries, Correns & von Tschermak independently
rediscovered Mendel’s results.
Chromosomal Theory of Inheritance (1902):
- Proposed by Walter Sutton & Theodore Boveri.
- They said that pairing & separation of a pair of chromosomes
lead to segregation of a pair of factors they carried.
- Sutton united chromosomal segregation with Mendelian
principles and called it the chromosomal theory of
inheritance. It states that,
§ Chromosomes are vehicles of heredity.
§ Two identical chromosomes form a homologous pair.
§ Homologous pair segregates during gamete formation. Thomas Hunt Morgan proved chromosomal theory of
§ Independent pairs segregate independently of each other. inheritance using fruit flies (Drosophila melanogaster).
Genes (factors) are present on chromosomes. Hence genes It is the suitable material for genetic study because,
and chromosomes show similar behaviours. • They can grow on simple synthetic medium.
• Short generation time (life cycle: 12-14 days).
• Breeding can be done throughout the year.
• Hundreds of progenies per mating.
• Male and female flies are easily distinguishable. E.g. Male
is smaller than female.
• It has many types of hereditary variations that can be seen
with low power microscopes.

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LINKAGE AND RECOMBINATION

Linkage is the physical association of two or more genes on § Tightly linked genes show low recombination. Loosely
a chromosome. They do not show independent assortment. linked genes show high recombination.
Recombination is the generation of non-parental gene
combinations. It occurs due to independent assortment or
crossing over.
Morgan carried out several dihybrid crosses in Drosophila to
study sex-linked genes. E.g.
Cross 1: Yellow-bodied, white-eyed females
X
Brown-bodied, red-eyed males (wild type)
Cross 2: White-eyed, miniature winged
X
Red eyed, large winged (wild type)
Morgan intercrossed their F1 progeny. He found that
§ The two genes did not segregate independently and the F2
ratio deviated from the 9:3:3:1 ratio.
§ Genes were located on the X chromosome.
§ When two genes were situated on the same chromosome,
the proportion of parental gene combinations was much
higher than the non-parental type. This is due to linkage. Alfred Sturtevant used the recombination frequency
§ Genes of white eye & yellow body were very tightly linked between gene pairs for measuring the distance between genes
and showed only 1.3% recombination. and ‘mapped’ their position on the chromosome.
§ Genes of white eye & miniature wing were loosely linked Genetic maps are used as a starting point in the sequencing
and showed 37.2% recombination. of genomes. E.g. Human Genome Project.

SEX DETERMINATION
- The chromosomes that are involved in sex determination • During spermatogenesis, males produce 2 types of gametes:
are called sex chromosomes (allosomes). They include X 50 % with X-chromosome and 50 % with Y-chromosome.
& Y chromosomes. • Females produce only ovum with an X-chromosome.
- Autosomes are chromosomes other than sex chromosomes. • There is an equal probability of fertilization of the ovum
Number of autosomes is same in males and females. with the sperm carrying either X or Y chromosome.
- Henking (1891) studied spermatogenesis in some insects
and observed that 50 % of sperm received a nuclear
structure after spermatogenesis, and other 50 % sperm did
not receive it. Henking called this structure as the X body
(now it is called as X-chromosome).
Mechanism of sex determination The sperm determines whether the offspring male or female.
a. XX-XO mechanism: Here, male is heterogametic, i.e. Sex determination in honeybee
XO (Gametes with X and gametes without X) and female - It is based on the number of sets of chromosomes an
is homogametic, i.e. XX (all gametes are with X- individual receives.
chromosomes). E.g. Many insects such as grasshopper. - Fertilised egg develops as a female (queen or worker).
b. XX-XY mechanism: Male is heterogametic (X & Y) and - An unfertilised egg develops as a male (drone). It is called
female is homogametic (X only). E.g. Human & parthenogenesis.
Drosophila. - Therefore, the females are diploid (32 chromosomes) and
c. ZZ-ZW mechanism: Male is homogametic (ZZ) and males are haploid (16 chromosomes). This is called as
female is heterogametic (Z & W). E.g. Birds. haplodiploid sex determination system.
XX-XO & XX-XY mechanisms show male heterogamety. - In this system, the males produce sperms by mitosis. They
ZZ-ZW mechanism shows female heterogamety. do not have father and thus cannot have sons, but have a
Sex Determination in Humans (XX-XY type) grandfather and can have grandsons.
• Human has 23 pairs of chromosomes (22 pairs of
autosomes and 1 pair of sex chromosomes).
• A pair of X-chromosomes (XX) is present in the female,
whereas X and Y chromosomes are present in male.

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MUTATION, PEDIGREE ANALYSIS AND GENETIC DISORDERS

MUTATION Haemophilia (Royal disease):
It is a sudden heritable change in DNA sequences resulting in • It is a sex linked (X-linked) recessive disease.
changes in the genotype and the phenotype of an organism. • In this, a protein involved in the blood clotting is affected.
Mutation is 2 types: • A simple cut results in non-stop bleeding.
ü Point mutation: The mutation due to change (substitution) • The disease is controlled by 2 alleles, H & h. H is normal
in a single base pair of DNA. E.g. sickle cell anaemia. allele and h is responsible for haemophilia.
ü Frame-shift mutation: It is the deletion or insertion of XHXH Normal female
base pairs resulting in the shifting of DNA sequences. Heterozygous female (carrier). She may
XHXh
• Loss (deletion) or gain (insertion/ duplication) of DNA transmit the disease to sons.
XhXh Hemophilic female
segment cause Chromosomal abnormalities (aberrations).
XHY Normal male
• Chromosomal aberrations are seen in cancer cells. XhY Hemophilic male
• The agents which induce mutation are called mutagens. • In females, haemophilia is very rare because it happens
They include only when mother is at least carrier and father haemophilic
- Physical mutagens: UV radiation, α, β, γ rays, X-ray etc. (unviable in the later stage of life).
- Chemical mutagens: Mustard gas, phenol, formalin etc. • Queen Victoria was a carrier of hemophilia. So her family
PEDIGREE ANALYSIS pedigree shows many haemophilic descendants.
- In human, control crosses are not possible. So the study of Colour blindness:
family history about inheritance is used. • It is a sex-linked (X-linked) recessive disorder due to defect
- Such an analysis of genetic traits in several generations of in either red or green cone of eye. It results in failure to
a family is called pedigree analysis. discriminate between red and green colour.
- The representation or chart showing family history is called • It is due to mutation in some genes in X chromosome.
family tree (pedigree). • It occurs in 8% of males and only about 0.4% of females.
- In human genetics, pedigree study is utilized to trace the This is because the genes are X-linked.
inheritance of a specific trait, abnormality or disease. • Normal allele is dominant (C). Recessive allele (c) causes
Symbols used in pedigree analysis colour blindness.
• The son of a heterozygous woman (carrier, XCXc) has a
Male: Female: Sex unspecified:
50% chance of being colour blind.
Affected individual: Mating: • A daughter will be colour blind only when her mother is at
Mating b/w relatives (consanguineous mating): least a carrier and her father is colour blind (XcY).
Parents above & Parents with Five unaffected Sickle-cell anaemia:
children below affected male child offspring • This is an autosome linked recessive disease.
• It can be transmitted from parents to the offspring when both
the partners are carrier (heterozygous) for the gene.
GENETIC DISORDERS • The disease is controlled by a pair of allele, HbA and HbS.
Homozygous dominant (HbAHbA): normal
The disorders due to change in genes or chromosomes.
2 types: Mendelian disorders & Chromosomal disorders. Heterozygous (HbAHbS): carrier; sickle cell trait
Homozygous recessive (HbSHbS): affected
1. Mendelian Disorders
• The defect is caused by the substitution of Glutamic acid
• It is caused by alteration or mutation in the single gene.
(Glu) by Valine (Val) at the sixth position of the β-globin
• E.g. Haemophilia, Colour blindness, Sickle-cell anaemia,
chain of the haemoglobin (Hb).
Phenylketonuria, Thalassemia, Cystic fibrosis etc.
• The pattern of inheritance of Mendelian disorders can be
traced in a family by the pedigree analysis.
• Mendelian disorders may be dominant or recessive.
• Pedigree analysis helps to understand whether the trait is
dominant or recessive.

• This is due to the single base substitution at the sixth codon

of the β-globin gene from GAG to GUG.
• The mutant Hb molecule undergoes polymerization under
low oxygen tension causing the change in shape of the RBC
Pedigree analysis of from biconcave disc to elongated sickle like structure.
(A) Autosomal dominant trait (E.g. Myotonic dystrophy) Phenylketonuria:
(B) Autosomal recessive trait (E.g. Sickle-cell anaemia) • An inborn error of metabolism.
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• Autosomal recessive disease. a. Aneuploidy: The gain or loss of chromosomes due to

• It is due to mutation of a gene that codes for the enzyme failure of segregation of chromatids during cell division.
phenyl alanine hydroxylase. This enzyme converts an b. Polyploidy (Euploidy): It is an increase in a whole set of
amino acid phenylalanine into tyrosine. chromosomes due to failure of cytokinesis after telophase
• The affected individual lacks this enzyme. As a result, stage of cell division. This is very rare in human but often
phenylalanine accumulates and converts into phenyl seen in plants.
pyruvic acid and other derivatives. Examples for chromosomal disorders
• They accumulate in brain resulting in mental retardation. § Down’s syndrome: It is the presence of an additional copy
These are also excreted through urine because of poor of chromosome number 21 (trisomy of 21).
absorption by kidney. Genetic constitution: 45 A + XX or 45 A + XY (i.e. 47
Thalassemia: chromosomes).
• An autosome-linked recessive blood disease. Features:
• It is transmitted from unaffected carrier (heterozygous) o They are short statured with small round head.
parents to offspring. o Broad flat face.
• It is due to mutation or deletion. o Furrowed big tongue and partially open mouth.
• It results in reduced synthesis of a or b globin chains of o Many “loops” on finger tips.
haemoglobin. It forms abnormal haemoglobin and causes o Broad palm with characteristic palm simian crease.
anaemia. o Retarded physical, psychomotor & mental development.
o Congenital heart disease.
• Based on the chain affected, thalassemia is 2 types:
§ Klinefelter’s Syndrome: It is the presence of an additional
o a Thalassemia: Here, production of a globin chain is
copy of X-chromosome in male (trisomy).
affected. It is controlled by two closely linked genes
Genetic constitution: 44 A + XXY (i.e. 47 chromosomes).
HBA1 & HBA2 on chromosome 16 of each parent.
Features:
Mutation or deletion of one or more of the four genes
o Overall masculine development. However, the
causes the disease. The more genes affected, the less a
feminine development is also expressed. E.g.
globin molecules produced.
Development of breast (Gynaecomastia).
o Thalassemia: Here, production of b globin chain is
b
o Sterile.
affected. It is controlled by a single gene HBB on
o Mentally retarded.
chromosome 11 of each parent. Mutation of one or both
§ Turner’s syndrome: This is the absence of one X
the genes causes the disease.
chromosome in female (monosomy).
• Thalassemia is a quantitative problem (synthesise very
Genetic constitution: 44 A + X0 (i.e. 45 chromosomes).
less globin molecules). Sickle-cell anaemia is a qualitative
Features:
problem (synthesise incorrectly functioning globin).
o Sterile, Ovaries are rudimentary.
2. Chromosomal disorders o Lack of other secondary sexual characters.
They are caused due to absence or excess or abnormal o Dwarf.
arrangement of one or more chromosomes. 2 types: o Mentally retarded.

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MODEL QUESTIONS
1. A pure yellow seeded pea plant is crossed to a pure green seeded one. Give the F2 phenotypic ratio.
2. “All test crosses are backcrosses but all backcrosses are not test cross.” Justify.
3. A Dihybrid heterozygous round yellow seeded garden pea was crossed with homozygous double recessive parent.
a. What type of a cross is this? b. Represent the cross schematically
c. What is the significance of this cross?
4. A diploid organism is heterozygous for 4 loci, how many types of gametes can be produced? (NCERT question)
5. Two heterozygous parents are crossed. If the two loci are linked what would be the distribution of phenotypic features in F1
generation for a dihybrid cross? (NCERT question)
6. Write down the possible genotypes and phenotypes of the young ones in the following crosses.
a. Father and mother: AB group b. Father O group mother AB group
c. Father homozygous A group and mother heterozygous B group.
7. Drosophila is an ideal material for genetic study. Why?
8. In our society, females are often blamed for producing female child. As a zoology student, evaluate this statement.
9. Analyse the diagram of pedigree analysis and answer the following questions.

a. Mention the number of male and female offspring.

b. How many individuals are affected? Mention the ratio of affected male and female offspring.
c. Is this character dominant or recessive? Justify.
d. From this chart, find out whether the parents are homozygous or heterozygous.
10. Note the relationship between first two words and fill up the fourth place.
a. Human :X&Y Drosophila: ………………….
b. Turner’s syndrome : XO Klinefelter’s syndrome: …………………….
11. Odd man out and justify your answer.
a. 45 A+ XX, 45 A + XY, 44 A + XX, 44 A + XO
b. Haemophilia, sickle cell anaemia, Turner syndrome, phenyl ketonuria
12. The beta globin chains of the haemoglobin molecule of two persons are given below.
a. Which person has abnormal chain?
b. Name the disorder affected him.
c. Briefly explain the reason for that disorder.

13. Chromosome sets of four individuals are given below

22AA + XXY, 22AA + XO, 45 A + XX, 45 A + XY
a. How many autosomes and allosomes are present in normal male and females?
b. Identify and write the names of chromosomal abnormalities in the above listed chromosome set.
c. Down’s syndrome may occur in both sexes. Comment.
14. A man suffering from hemophilia marries a carrier woman. Work out the chances of their progeny suffering from the
disease. Use a flow chart.