5.
PRINCIPLES OF INHERITANCE AND VARIATION
Testcross: Crossing of an F1 hybrid with its
GREGOR MENDEL
recessive parent (F1 X Dwarf). Significance:
Father of genetics. It is used to find out the unknown genotype
He conducted hybridisation experiments
on garden peas (Pisum sativum).
DIHYBRID CROSS
REASONS FOR SELECTING GARDEN PEA
A cross between two parents differing in
Short life cycle. two pairs of characters.
Easy to cultivate.
Easy hybridization.
Bisexual flower.
7 CONTRASTING CHARACTERS
Characters Dominant recessive
Stem height Tall Dwarf
Flower colour Violet White
Flower Axial Terminal
position
Pod shape Inflated Constricted
Pod colour Green Yellow
Seed shape Round Wrinkled
Seed colour Yellow Green
MONOHYBRID CROSS
A cross involving 2 plants differing in one
pair of character.
Phenotypic ratio= 9 Round yellow: 3
Round green: 3 Wrinkled yellow: 1
Wrinkled green= 9:3:3:1
Genotypic ratio: 1:2:1:2:4:2:1:2:1
Phenotypic ratio= 3 Tall: 1 Dwarf= 3:1 MENDEL’S LAWS OF INHERITANCE
Genotypic ratio= 1 TT: 2 Tt: 1tt= 1:2:1 1. Law of dominance (Based on monohybrid
cross).
BACK CROSS AND TEST CROSS
2. Law of segregation (Based on monohybrid
Backcross: Crossing of F1 hybrid with any of cross).
the parent (F1 X Tall/Dwarf).
3. Law of independent assortment (Based on When IA and IB are present together they
dihybrid cross). both expresses. This is due to co-
dominance.
NON-MENDELIAN INHERITANCE
3. MULTIPLE ALLELISM
1. INCOMPLETE DOMINANCE
More than 2 alleles control the same
F1 progeny shows intermediate character
character. Eg: ABO blood grouping (3
in between two parents.
alleles: IA, IB & i).
Reason - Dominant gene is incompletely
dominant over recessive gene. 4. PLEIOTROPY
Both phenotypic and genotypic ratio same,
Single gene controls many characters.
1:2:1.
Such a gene is called pleiotropic gene. Eg:
Eg: Flower colour in snapdragon
Starch synthesis in pea seeds, sickle cell
(Antirrhinum sp.)
anaemia, phenylketonuria etc.
Flower colour in Mirabilis jalapa (4’O clock
plant). Genotype Phenotypes
Size of starch grains Shape of
seed
BB Large Round
Bb Intermediate Round
bb Small Wrinkled
5. POLYGENIC INHERITANCE
Three or more genes control a character.
Eg: Human skin colour, human height.
AABBCC = darkest skin colour.
aabbcc = lightest skin colour.
AaBbCc= intermediate colour.
Phenotypic ratio= 1 Red: 2 Pink: 1 White =
1:2:1 CHROMOSOMAL THEORY OF INHERITANCE
Genotypic ratio= 1 (RR):2 (Rr):1(rr) =1:2:1 (1902)
2. CO-DOMINANCE o Proposed by Waltor Sutton and Theodor
Boveri.
Both alleles are expressed. Eg: ABO blood
o According to the theory, the genes are
grouping in human.
located on chromosomes. They later
ABO blood grouping: segregate at the time of gamete formation.
Gene I control blood group. PROOF FOR CHROMOSOMAL THEORY
The gene (I) has three alleles IA, IB and i.
Proved by T.H Morgan.
Experiment material: Fruit fly (Drosophila
melanogaster).
REASONS FOR SELCTING FRUIT FLY
Short life cycle.
Hundreds of progenies per mating.
They can grow on simple medium.
Male and female easily distinguishable.
LINKAGE AND RECOMBINATION MUTATION
Linkage: Physical association of 2 or more o It is a sudden heritable change in DNA.
genes on a chromosome. o Mutation causes changes in the genotype
Recombination: Generation of non- and the phenotype of an organism.
parental gene combinations. o It was explained by Hugo De Vries.
Morgan’s Conclusion Mutagens:
o Tightly linked genes show low The agents which cause mutation are
recombination. called mutagens.
o Loosely linked genes show high Physical mutagens: UV radiation,
recombination. X-ray, α, β, γ rays etc.
Chemical mutagens: Mustard gas,
GENETIC MAP
phenol, formalin etc.
Diagrammatic representation of distance
Types of mutation:
of genes in a chromosome.
Constructed by Alfred Sturtevant. 1. Frame-shift mutation: Loss or gain of a
DNA segment.
SEX DETERMINATION
2. Point mutation: Change in a single base
There are 2 types of chromosomes: pair of DNA. Eg: Sickle cell anaemia.
1. Autosomes: Control the somatic PEDIGREE ANALYSIS
characters.
It is analysis of inheritance of a particular
2. Sex chromosomes: Involved in sex
trait through several generations in a
determination.
family (pedigree).
SEX DETERMINATION METHODS
Symbols used in the pedigree analysis:
Mechanism Examples
XX female - XY male Humans, drosophila
XX female – XO male Grasshopper
ZW female – ZZ male Birds
Haplo-diploid Honey bee
Male heterogamety: Male produce two
different gametes. Eg: Humans, drosophila
(XX female – XY male method).
Female heterogamety: Female produce
two different gametes. Eg: Birds (ZW
female – ZZ male method).
Sex determination in humans (XX female – XY
male method)
Male X Female
Significance:
To trace the inheritance of a specific trait,
abnormality or disease.
GENETIC DISORDERS The disease is controlled by a pair of allele,
HbA and HbS.
1. Mendelian disorders – Caused by change
Homozygous dominant (HbAHbA):
in the single gene.
normal.
2. Chromosomal disorders – Caused by
Heterozygous (HbAHbS): carrier.
change in chromosome number.
Homozygous recessive (HbSHbS):
1. MENDELIAN DISORDERS affected.
a. Haemophilia
Reason Symptoms
A protein that helps Non-stop bleeding
in blood clotting is from simple cut.
affected.
Other features
Sex linked (X-linked) recessive disease. c. Phenyl ketonuria
The disease is controlled by 2 alleles, H &
Reason Symptoms
h. H is normal allele and h is responsible for
haemophilia. The disease is caused Mental retardation
Heterozygous female (carrier) transmits by mutation in the Reduction in hair
the disease to son. gene that code for the Skin pigmentation.
In females, haemophilia is very rare enzyme phenylalanine Phenyl pyruvic acid
because it happens only when mother is at hydroxylase that excreted through urine
least carrier and father haemophilic. converts the amino because of poor
Queen Victoria was a carrier. acid phenylalanine absorption by kidney.
into tyrosine. As a
b. Sickle cell anaemia result, phenylalanine
accumulates and
Reason Symptoms converts into phenyl
Substitution of Glutamic Change in shape pyruvic acid
acid (Glu) by Valine (Val) at of the RBC to
the sixth position of the β- sickle like Autosomal recessive disorder (single gene
globin chain of the structure. RBCs mutation).
haemoglobin (Hb). This is are destroyed An inborn error of metabolism.
due to the single base leading to
substitution at the sixth anaemia. d. Colour blindness
codon of the β-globin gene Reason Symptoms
from GAG to GUG.
Defect in certain Failure to discriminate
genes present in the X red and green colour.
chromosome.
Other features
Autosome linked recessive disease.
Sex-linked recessive disorder.
Transmitted from parents to the offspring
It occurs in about 8% of males and only
when both the partners are carrier
about 0.4% of females. This is because the
(heterozygous) for the gene.
genes are on the X chromosome.
The son of a woman who carries the gene o Polyploidy: (Euploidy): It is an increase in a
has a 50% chance of being colour blind. A whole set of chromosomes. This is due to
daughter will not normally be colour blind, failure of cytokinesis after telophase stage
unless her mother is a carrier and her of cell division. This is often seen in plants.
father is colour blind.
Disorder Genetic Phenotype
e. Thalassemia constitution (symptoms)
(karyotype)
Reason Symptoms
Down’s Presence of an They are short
Due to either Anaemia.
syndrome additional statured with
mutation or deletion
which results in (trisomy of copy of small round
reduced rate of 21). chromosome head. Broad flat
synthesis of alpha or number 21. face.
beta chains of 45 A + XX Furrowed big
haemoglobin that
(female) tongue and
leads to formation of
partially open
abnormal Hb. 45 A + XY
mouth. Broad
(male)
palm. Retarded
Autosomal recessive disorder. (i.e. 47 physical,
Blood disease transmitted from parents to chromosomes) psychomotor &
the offspring when both the partners are mental
carrier (or heterozygous). development.
i. Alpha thalassemia: Congenital heart
disease.
Production of alpha globin chain is
Klinefelter’ Presence of an Development of
affected.
s additional breast
It is controlled by genes HBA1 and HBA2 on
Syndrome copy of X (Gynaecomastia
chromosome 16 of each parent.
chromosome ).
ii. Beta thalassemia: in male
Sterile.
(trisomy).
Production of beta globin chain is affected.
Mentally
It is controlled by a single gene HBB on 44 A + XXY
retarded.
chromosome 11 of each parent.
(i.e. 47
2. CHROMOSOMAL DISORDERS chromosomes)
.
o Aneuploidy: The gain or loss in a subset of
chromosomes. This is due to failure of Turner’s Absence of Sterile, Ovaries
segregation of chromatids during cell syndrome one X are rudimentary.
division. Eg: Down’s syndrome, Turner’s chromosome
Lack of other
syndrome. It includes; in female
secondary
(monosomy).
sexual
Monosomy (2n-1): One
44 A + X0 characters.
chromosome is lost from diploid
set. (i.e. 45 Dwarf.
Trisomy (2n+1): One chromosome chromosomes)
Mentally
is added to diploid set. .
retarded.
