PRINCIPLES OF

INHERITANCE AND
VARIATIONS
COMMON TERMS USED IN GENETICS
• CHARACTER / TRAIT
• DOMINANT TRAIT / RECESSIVE TRAIT
• GENE / ALLELE
• HOMOZYGOUS / HETEROZYGOUS
• PHENOTYPE / GENOTYPE
LAWS OF MENDEL
• LAW OF DOMINANCE
• LAW OF SEGREGATION OF GAMETES
• LAW OF INDEPENDENT ASSORTMENT
LAW OF DOMINANCE
Mendel's law of dominance states that in a heterozygote, one trait will
conceal the presence of another trait for the same characteristic.
Rather than both alleles contributing to a phenotype,
the dominant allele will be expressed exclusively.
LAW OF SEGREGATION OF GAMETES

• This law explains that the pair of alleles segregate from each other
during meiosis cell division (gamete formation) so that only one allele
will be present in each gamete.
OR
• the parents contain two alleles during gamete formation, the factors
or alleles of a pair segregate from each other such that a gamete
receives only one of the two factors.
TEST CROSS
• Test cross is a cross between an organism with unknown genotype
and a recessive parent.
• Testcross is a cross between F1 hybrid and homozygous recessive
parent. 
• Test cross is so named as it determines whether the individual with
dominant phenotype is homozygous dominant or heterozygous
dominant.
INCOMPLETE DOMINANCE
Gene and alleles
Concept of dominance
• (i) the normal/less efficient enzyme, or
• (ii) a non-functional enzyme, or
• (iii) no enzyme at all
Codominance
• Codominance means that neither allele can mask the expression of
the other allele.
• An example in humans would be the ABO blood group, where alleles
A and alleles B are both expressed.
• So if an individual inherits allele A from their mother and allele B from
their father, they have blood type AB.
MULTIPLE ALLELISM
• When there are more than two, i.e., three alleles, govern the same
character, it is a case of multiple allelism.
• It is generally seen in large population studies.
PLEIOTROPY
• Pleiotropism is the condition in which a single gene controls more
than one phenotypic effect, that is completely unrelated.
• An example being phenylketonuria, which is a human disease that
affects multiple systems but is caused by one gene defect.
• Consequently, a mutation in a pleiotropic gene may have an effect on
some or all traits simultaneously.
Law of independent assortment
LINKAGE AND RECOMBINATION
Polygenic Inheritance
Sex Determination KARYOTYPE
Male Heterogamety
Female heterogamety
Sex determination in honey bees
Mutations
• A mutation is a change in a DNA sequence. 
• Mutations can result from DNA copying mistakes made during cell
division, exposure to ionizing radiation, exposure to chemicals called
mutagens, or infection by viruses.

Types :
• Point mutation
• Frameshift mutation
Framshift mutation
• A frameshift mutation is a genetic mutation caused by a deletion or
insertion in a DNA sequence that shifts the way the sequence is read.
• So  frameshift mutations result in abnormal protein products with an
incorrect amino acid sequence that can be either longer or shorter
than the normal protein.
Point mutation
• Point mutation is the mutation that affects a single nucleotide or
nucleic acid. In this, an amino acid phenylalanine is lost which causes
misfolding of protein.
• Sickle cell anemia: It is caused by single point mutation in the beta
haemoglobin gene.
Pedigree analysis
GENETIC DISORDERS
They are of two types:
• Mendelian disorders are mainly determined by alteration or mutation
in the single gene.
Mendelian disorders may be dominant or recessive.
Similarly, the trait may also be linked to the sex chromosome or
autosomes.

• Chromosomal disorders are caused due to absence or excess or

abnormal arrangement of one or more chromosomes.
Haemophilia
Haemophilia is a mostly inherited genetic disorder that impairs the
body's ability to make blood clots, a process needed to stop bleeding.
This results in people bleeding for a longer time after an injury, easy
bruising, and an increased risk of bleeding inside joints or the brain
• XY x X hX Normal father and Carrier Mother
• 
• Xh Y x X hX h Affected father and affected Mother
• 
• 
• XY x X hX h Normal father and affected Mother
• 
• Xh Y x X hX Affected father and Carrier Mother
Sickle cell anemia
• Sickle cell anemia is one of a group of disorders known as sickle cell
disease. 
• Sickle cell anemia is an inherited red blood cell disorder in which
there aren't enough healthy red blood cells to carry oxygen
throughout your body.
• Normally, the flexible, round red blood cells move easily through
blood vessels.
• AA ---- NORMAL RBC
• Aa------ CARRIER, NOT AFFECTED WITH SICKLE ANAEMIA
• aa ----------- AFFECTED WITH SICKLE CELL ANAEMIA

 3 tpes of individuals:
• HbAHbA HbAHbS HbSHbS
Is the trait sex linked or autosomal? Is it recessive or dominant? Give
the genotype of parents in I and 3rd and 4th child in generation II.
THALASSEMIA

• Thalassemia is an inherited blood disorder characterised by less

haemoglobin and fewer red blood cells in the body than normal.
• Symptoms include fatigue, weakness, paleness and slow growth.
• Mild forms may not need treatment. Severe forms may require
blood transfusions or a donor stem-cell transplant
• This is also an autosome-linked recessive blood disease transmitted
from parents to the offspring when both the partners are unaffected
carrier for the gene.
• The defect could be due to either mutation or deletion which
ultimately results in reduced rate of synthesis of one of the globin
chains (a and b chains) that make up haemoglobin. This causes the
formation of abnormal haemoglobin molecules resulting into
anaemia.
• It differs from sickle cell anaemia in that thalassemia is a quantitative
disease, whereas the later is qualitative disease.
Colourblindness
• Colourblindness is not a form of blindness at all, but a deficiency in
the way you see colour.
• If you are colourblind, you have difficulty distinguishing certain
colours, such as blue and yellow or red and green.
CHROMOSOMAL DISORDERS
Aneuploidy is the presence of an abnormal number of chromosomes in
a cell, for example a human cell having 45 or 47 chromosomes instead
of the usual 46. EX- Down’s syndrome
WHY DOES IT HAPPEN?
KLINEFELTER SYNDROME
 

KLINEFELTER SYNDROME