PRINCIPLES OF INHERITANCE AND VARIATION

Sex Determination Mechanism: Finalisation of sex at the time of zygote formation is called sex
determination.
Two types of chromosomes are present in individuals – sex chromosomes (which determine the sex of
individuals) and autosomes.

(i) XX–XY type:

Seen in many insects and mammals including humans, Drosophila melanogaster.
Males have X and Y chromosomes along with autosomes and females have a pair of X,i.e. XX
chromosomes.
(ii) XX–XO type:
Seen in grasshopper and cockroach.
Males have only one X chromosome besides autosomes and females have a pair of X
chromosomes, i.e. XX.

(iii) ZZ–ZW type:

Seen in birds.
Females have one Z and one W chromosome (homogametic) whereas males have a pair of Z
chromosomes, i.e ZZ (homogametic).

Sex Determination in Humans:

 Humans show XY type of sex determining mechanism.
 Out of 23 pair of chromosomes, 22 are autosomes (same in both males and females).
 Females have a pair of X-chromosomes and males have a X and a Y chromosome.
 During spermatogenesis males produce two types of gametes with equal probability – sperm carrying
either X or Y chromosome, i.e. either (22+X) or (22+Y).
 During oogenesis, females produce only one types of gamete – having X chromosome.
 An ovum fertilised by the sperm carrying X-chromosome develops into a female (XX) and an ovum
fertilised by the sperm carrying Y-chromosome develops into a male (XY).
Sex Determination in Honeybee (Haplodiploidy Sex Determination System):
 Honeybees show haplodiploid sex determination system.
 Offsprings formed from union of a sperm and an egg develops as a female (queen or worker), which
are diploid, having 32 chromosomes.
 Unfertilised eggs developed by parthenogenesis form male (drone), which are haploid having 16
chromosomes.
 Males produce sperms by mitosis, so they, neither have fathers nor sons but have grandfathers and
grandsons.

Pedigree Analysis:
The study of inheritance of genetic traits in several generations of a human family in the form of a family
tree diagram is called pedigree analysis.
Advantages:
(i) It helps in genetic counselling to avoid disorders in future generations.
(ii) It shows the origin of a trait and flow of a trait in a family.
(iii) It is important to know the possibility of expressive recessive allele that can cause genetic
disorders like colour blindness, haemophilia, etc.
(iv) Control crosses cannot be made in humans, so pedigree analysis helps us to study inheritance
pattern of a trait.
(v) It helps us to understand whether the trait is dominant or recessive autosomal or sex-linked.
(vi) It predicts the harmful effects of marriage between close relatives.
(vii) It is extensively used in medical research.
 Symbols used in Pedigree analysis:

Mutations:
Mutation is defined as the sudden inheritable change in the genetic material.
It can be of the following two major types:
(i) Point mutation: It is the mutation in a single base pair, which is replaced by another base pair.
For example, in sickle-cell anaemia, point mutation in β-globin chain results in change of
glutamate to valine.
(ii) Frameshift mutation: It is the change in the reading frame because of insertion or deletion of
base pairs.
(a) Insertion: It is the addition of one or more nucleotides in the DNA segment. Insertion of
three or its multiple bases do not change the reading frame but add a new amino acid.
(b) Deletion: It is the removal of one or more nucleotides from the DNA segment. Deletion of
three or its multiple bases do not change the reading frame but remove one or more amino acids.
Mendelian Disorders:
Mendelian disorders are caused due to alteration or mutation in single gene.
These follow Mendel’s principles of inheritance.
1. Haemophilia:
(i) It is a sex-linked recessive disorder. It is also known as bleeder’s disease.
(ii) Patient continues to bleed even with a minor cut because of a defect in blood coagulation.
(iii) The gene for haemophilia is located on X chromosome.
(iv) More males suffer from haemophilia than females because in males single gene for the defect is
able to express as males have only one X chromosome.
(v) The defective alleles produce non-functional proteins which later form a non-functional cascade
of proteins involved in blood clotting.
(vi) Females suffer from this disease only in homozygous condition, i.e., Xh Xh
2. Sickle-cell anaemia:
(i) It is an autosome-linked recessive trait.
(ii) The disease is controlled by a single pair of allele HbA and HbS .
(iii) Only the homozygous individuals for HbS , i.e., HbS HbS show the diseased phenotype.
 (iv) The heterozygous individuals are carriers (HbAHbS).
(iv) Due to point mutation, glutamic acid (Glu) is replaced by valine (Val) at the sixth position of β-
globin chain of haemoglobin molecule.
(v) It occurs due to single base substitution at 6th codon of b-globin gene from GAG (Glutamic
acid) to GUG (Valine).
Mutated haemoglobin molecule undergoes polymerisation under low oxygen tension causing the
change in the shape of RBC from biconcave disc to elongated sickle like structure. As a result, the
cells cannot pass through narrow capillaries. Blood capillaries are clogged and thus affect blood
supply to different organs.

3. Phenylketonuria:
(i) It is an inborn error of metabolism and is inherited as autosomal recessive trait.
(ii) The affected individual lacks an enzyme called phenylalanine hydroxylase that converts the amino acid
phenylalanine into tyrosine in liver.
(iii) Phenylalanine is accumulated and gets converted into phenylpyruvic acid and other derivatives. This
affects the brain, resulting in mental disorder.
(iv) Phenylalanine is also excreted through urine because of its poor absorption by kidney
4. Thalassemia:
(i) It is an autosome-linked recessive disease.
(ii) It occurs due to either mutation or deletion resulting in reduced rate of synthesis of one of globin chains
of haemoglobin.
(iii) Anaemia is the characteristic of this disease.
(iv) Thalassemia is classified into two types:
(a) α-thalassemia—Production of α-globin chain is affected. It is controlled by the closely linked
genes HbA1 and HbA2 on chromosome 16.
(b) β-thalassemia—Production of β-globin chain is affected. It occurs due to mutation of one or both
HbB genes on chromosome 11.
5.Colour blindness:
(i) It is a sex-linked recessive disorder.
(ii) It results in defect in either red or/and green cone of eye, resulting in failure to discriminate between
red and green colour.
(iii) The gene for colour blindness is present on X chromosome.
(iv) It is observed more in males (Xc Y) because of presence of only one X chromosome as compared to two
chromosomes of females.

Chromosomal Disorders:
Chromosomal disorders are caused due to excess, absence or abnormal arrangement of one or more
chromosomes.

Aneuploidy: Sometimes the chromatids fail to segregate during cell division, resulting in gain or loss of
a chromosome. This is called aneuploidy.
It is of two types:
(i) Trisomy: Additional copy of a chromosome in an individual, i.e., (2n+1).
(ii) Monosomy: Lack of copy of a chromosome in an individual, i.e., (2n – 1)

Polyploidy: Failure of cytokinesis after telophase stage of cell division results in an increase in whole set
of chromosomes in an organism. It is called polyploidy. It is often seen in plants.

1. Down’s syndrome:
Cause:
Additional copy of chromosome number 21 or trisomy of chromosome 21.
Symptoms:
Short statured with small round head.
Partially open mouth with protruding furrowed tongue.
Palm is broad with characteristic palm crease.
Physical, psychomotor and mental development retarded.
2. Klinefelter’s syndrome:
Cause: Presence of an additional copy of X chromosome resulting in the karyotype 44+XXY. i.e., 47
chromosomes.
Symptoms:
(i) Sex of the individual is masculine but possess feminine characters.
(ii) Gynaecomastia, i.e., development of breasts.
(iii) Feminine pitched voice.
(iv) They are sterile.
(v) Tall stature
3. Turner’s syndrome:
Cause: Absence of one of the X chromosomes, resulting in the karyotype 44+XO i.e., have 45
chromosomes.
Symptoms:
(i) Sterile female with rudimentary ovaries.
(ii) Lack of other secondary sexual characters.
(iii) Underdeveloped feminine characters.
(iv) Poor development of breasts.
(v) Short stature, small uterus.