DOCTOR’s ACADEMY

Dr Manoj Kumar
 Genetics
• Science of Heredity
 Gregor John Mendel
• Father of Genetics
 Used pea plants
• Reasons:
– Easy to cultivate
– Grow in large numbers so result are easily
checked
– Controlled cross fertilization
– Short life cycle
– Many crosses can be carried out
– Seven contrasting pairs of traits
Seven Contrasting pair of Traits
 Some Definitions
• Gene
• Genome
• Locus
• Allele
• Gene pool
• Dominant
• Recessive
• Phenotype
• Genotype
• Homozygous
• Heterozygous
• First Filial Generation
 Law of Segregation

Inheritance of Single Trait

 Cross
• F1 generation  All Tall plants  100 tall
• F2 generation
– Phenotypic Ratio
• 3:1
• (75% tall – 25% short)
– Genotypic Ratio
• 1: 2 : 1
 Probability in Genetics
• Chance of occurring an event
1)AA x Aa = AA , AA , Aa , Aa

Phenotype = All dominant

Genotype = 2 : 2
 Aa x Aa = AA , Aa, Aa , aa

Phenotype = 3:1
Genotype = 1:2:1
 Problem
• Albinism is a recessive trait in humans .
Two normal parents have an albino child.
What is the probability that their next child
will be normal or albino?
Q:In a cross between pea plants that are
heterozygous for purple flower colour(Pp).
What is the probability that the offspring will
be homozygous recessive
• Q:In a cross between AaBb x AaBB what
is the probability that the offspring will be
AaBb
In a cross between AaBbCc x AaBBCC what
is the probability that the offspring will be
AaBbCC
Q:If a couple has 7 children .what is the
probability of their children having 3 girs and
then having 4 boys.
Tall is dominant over short in a certain
plant.A tall plant was crossed with a short
plant and both tall and short offsprings
were produced . This demonstrates
A)Law of segregation
B)Incomplete dominance
C)Linkage
D)Mutation
E)Law of independent assortment
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 Test Cross
• To know the genotype of the
phenotypically Dominant Character

• A cross between an organism of unknown

genotype and one with a recessive
phenotype to determine the genotype of
the one that is unknown
• Dominant is crossed with Recessive
character

• If the Ratio of offsprings is 1:1 ,it means

dominant character is heterozygous

• If the all offsprings in next generation are

dominant , then character is Homozygous
dominant
• Phenotype Ratio  1:1
• Genotype Ratio  1:1
 • Problem
in fruit flies L= long wings , l = short
wings.The offspring exhibit a 1:1 ratio
when a long winged fly is crossed with a
short winged fly.what is the genotype.
 Problem
• In sheep white coat color is dominant to
black. How the genotype of the white
sheep can be determined?
Red is dominant over white in a certain flower. To test
whether a red offsprings is homozygous or
heterozygous in this flower,one would
A)Cross it with a red plant that has a white parent
B)Cross it with a red plant that had two red parents
C)Cross it with a white plant
D)Two of the above will work
E)None of the above will work
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In the case of pea plant; tall (T) is dominant
over dwarf (t).What is the genotype of the
parents of a generation of plants half of
which are tall and half of which are dwarf?
A)Tt x tt
B)Tt x Tt
C)TT x tt
D)XTXt x XTXt
E)XTXT x XtXt
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 Inheritance of Two traits

Mendel’s Law of Independent

Assortment
• When a pair of contrasting characters are
crossed the characters are inherited or
Assorted independent of each other
• Phenotypic Ratio  9:3:3:1
Green(Y) is dominant over yellow(y) in
peas , and the smooth allele (W) is
dominant over wrinkled (w).Which cross
must produce all green,smooth peas?
A)YyWw x YyWw
B)Yyww x YYWw
C)TyWW x yyWW
D)YyWw x YYWW
E)None of the above
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 Dominance Relations
• Complete Dominance
• Incomplete Dominance
• Co-dominance
• Over Dominance
 Complete dominance
• One allele is Completely Dominant over
the other
 Incomplete Dominance
• Neither of the allele is dominant over the
other
 Cross
• When crossing a red four O’ clock plant
with a pink one , what should you expect
the offspring to be?
 Problem
What will be the result of cross between red
bull to white cow. What are genotype and
phenotype of offsprings
 Problem
• What will be the result of cross between
roan bull and white cow
 Codominance
• When both the alleles are fully expressed
in heterozygous Condition
 Example
• Blood Groups
 Over Dominance
• Over dominant heterozygote exceeds in
quantity to phenotypic expression of both
homozygotes
• Example
– W+W + = Red eyes
– W+ W = Bright Red eyes
– ww = White Eyes
 Multiple Allelels
• Usually trait is controlled by two alleles

• Some traits are controlled by more than

two alleles
 Examples
• Different coat colors in rabbits
• Blood group
 Blood Group- ABO system
• IA = Produces A Antigen on RBCs
• IB = Produces B antigen on RBCs
• i = Produces No antigen
 Four Blood Groups
• Blood Group A
• Blood Group B
• Blood Group AB
• Blood Group O
 Agglutination
• Clumping of RBCs due to antigen antibody
reaction
Importance of Blood Group
 Transfusion
• Universal Donor
Blood group O  because no antigen

• Universal Recipient
– Blood group AB  Because No antibodies
 Establishment of Paternity
Two new born babies get mixed up in the
nursery of a hospital. Baby I is type B and
baby II if of type O.Determine their
parentage from the phenotype of these two
couples . Mr Haris is type A and Mrs Haris is
type AB. MR and Mrs Bilal are both of type
A.
Problem
Problem
Explain fully how parents of blood group A
may have three children all of whom have
group O.

Parents having blood group A both will be

heterozygous.
 Rh Blood Group
• Rhesus monkey

• Rh +ve = Rh factor (antigen) present

• Rh –ve = Rh factor (antigen) absent
 Genes of Rh factor
• Three genes C, D and E

• Important is D locus
 Gene D
• Gene D has Two alleles = D and d

• Gene D is dominant over d

• DD or Dd = Rh antigen present
• Dd = Rh antigen absent
 Antibody Against Rh antigen
• Rh negative person
– No Rh antigen ,No Rh antibody

• If Rh negative Person is given Rh positive blood

 It will stimulate the plasma to produce Rh
antibodies

• If same Rh negative person is again given Rh

Positive blood . The antibody already formed in
the plasma against Rh positive will react with
donated blood.
 Erthyroblastosis Fetalis
• Mother Rh negative x Father Rh Positive
dd x DD

Child = Dd (Rh +ve Baby)

• Leakage of Rh+ antibodies across
plecenta
– Mother Rh –ve blood produces Rh antibodies
– Subsequent Rh +ve baby is in danger
– Rh +ve antibodies pass through placenta and
destroy child’s red blood cells.

• This Hemolytic disease

– Erthryoblastosis Fetalis
 Symptoms
• Anemia
• Still Birth
• If baby survives
– Jaundice
– Brain damage
– Mental Retardation
– Death
 Prevention
• Injection of Rh immunoglobin
• Timing of Injection is important
– Mid of the pregnency or
– Within 72 hrs of birth to Rh+ baby.
Problem
Problem
An individual with type O blood must have
which of the following?
A)Multiple alleles at the blood type gene
B)Several different genes that control blood
type
C)Homozygous recessive alleles
D)Selection against other types that delete
the gene
E)Spontaneous mutations
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If a male with blood type A marries a female
with blood type B,which of the following
types would be impossible for a first
generation child?
A)Type B
B)Type A
C)Type O
D)Type AB
E)All types are possible
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 Epistasis
• When gene present on one gene locus
supresses expression of genes present on
the same or other chromosome , it is
called 
 Dominant Epistasis
• Exerts epistatic effect in homozygous as
well as heterozygous condition
 Recessive Epistasis
• Exerts epistatic effect in homozygous
condition.
 Duplicate Recessive Epistasis
• Complementary genes
– Two pairs of genes present on separate gene
loci that interact jointly to produce only one
phenotypic character,neither of them if
present alone expresses itself.
 Example 1
• First white varitey = AAbb
• 2nd White variety = aaBB
• Purple variety = AaBb
• F2 generation = 9:7 b/w purple : white
 Example 2
• Bombay Phenotype
– Phenotypically O
– Genotypically A or B
• IA or IB locus on chromosome 9
• H locus on chromosome 19
Problems
 Pleiotropy
• Gene with multiple phenotypic effect
• E.g)white eye gene in drosophila also
affects shape of sperm storing
organ(spermathecae)
• Gene that affect growth rate in humans
also influence both weight and height.
Continuously Varying Trait

Polygenic Inheritance
• Human Skin colour
• Human Height
Drosophila
 Gene Linkage
• Colorblindness ,heamophilia , gout
= x chromosome

Sickle cell anemia , leukemia , albinism =

chromosome # 11
 Crossing over
• Exchange of gene segments between non
sister chromatids.
• The homologous chromosomes pair up
length wise,point to point and locus to
locus
• One homologue carries Gene A and B
• Other homologue has gene a and b
• Four types of gametes r formed
• Two with parental combinations of
genes(i.e)AB and ab
• Two with recombination of genes(i.e)Ab
and aB
 Recombinant frequency
• Recombinant frequency =
recombinanat types x 100
sum of all combinations
• If there are 80 parental types and
• If recombinant types are 20
Then recombination frequency is
_____20________ x 100
80 +20
= 20%
 Gene mapping
Genes can be mapped on a chromosome on
the basis of their recombination frequencies
Recombination frequency is directly
proportional to distance between the linked
gene loci.
• If 1% of recombination frequency is equal
to 1 unit map distance , the two linked
genes A and B with 20% recombination
frequency must be 20 units apart.
• What is the gene order of linked genes
A,B,C and D given the following
recombination frequencies?
• Freq.AB:6% freq.CD:17%
• Freq.BC:18% freq.AC:12%
• Freq.AD.5% freq.BD:1%
• A)ACDB B)BDAC
• C)CBDA D)DBAC
 Sex determination
• Determination of sex of foetus
• Sex is determined by
– Either sperm or egg
 Sex linked inheritance
• Traits for which genes are present on the
sex chromosome.
– X linked recessive triats
– X linked dominant traits
– Y linked traits
 X linked recessive traits
Recessive allele on x chromosome controls
expression of character.
This character is more common in males
than in females.
Male expresses character in hemizygous
condition
(one recessive allele on x chromosome from
mother expresses the character)
• Female expresses the character in
homozygous recessive condition
• Two recessive alleles one from mother
one from father expresses the character
• Pattern of transmission :
– Maternal grandfather  carrier mother  son
• Heamophilia
• Colorblindness
• Eye color of drosophila
• Testicular feminization syndrome
 Heamophilia
• Heamophilia A= X linked recessive trait
• Heamophilia B= X linked recessive trait
• Heamophilia C = autosomal recessive trait
 Possible genotypes
• XHXH
• XHXh
• X hX h
• XHY
• X hY
 Pedigree
• The mode of inheritance of human trait
can be traced through pedigree.
• Male =
• Female =
• Affected male =
• Carrier Female =
• Affected Female =
 Color Blindness
• Trichromat: perceive three primary colors
– Red and green opsins = X chromosome
– Blue opsin = autosome # 7
 Dichromat
• Perceives two colors
– Protanapia = red blindness
– Deutronapia = green blindness
– Tritonapia = blue blindness
 Monochromat
• Perceives one color
– Blue cone monochromacy or
– Red green blindness
• X linked recessive trait
 Testicular feminaization
syndrome
• Male has = XY chromosomes
• Tfm gene on x chromosome develops them
physically into females
• They have breast ,female genitalia , a blind
vagina but no uterus
• Degenerated testis also present in abdomen
• Sterile
A boy with red green color blindness has a color
blind father and a mother who is not color
blind.the boy inherited his color blindness
A)His father
B)His mother
C)Either his father or his mother
D)Both parents; this is an example of incomplete
dominance
E)It cannot be determined
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