Module 1

Module 1
Introduction to
bg
Genetics
Start Module
Module Overview
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Module 1
Introduction to
Genetics
Overview
bg
Lessons
Assignment
Module Overview
What accounts for these similarities in parents and children?
Module Overview
What accounts for

the changes in eye
colour?
Module Overview
What accounts for

the changes in eye
colour?
Module Overview
Why can some people roll their tongues and others can’t?
Module Overview
pic
Module 1
Introduction to
Genetics We can find the
answers to these
Overview questions and
bg
many more in
Lessons
understanding
Genetics
Assignment
Module Lessons
pic
Module 1
Introduction to
g e m
Genetics g g g
What is Early Mendelism

Overview
Genetics? Theories
bg
Lessons
Assignment a
Analysis of
Genetic Data
What is
Genetics?
g
f
What is Genetics?
It is that branch of Biology

concerned with Heredity
and Variation
(The hereditary units that are
transmitted from one generation
to the next (i.e. inherited) are
called genes).
What is Genetics?
It is concerned with the

transmission, expression,
and evolution of genes
(i.e. the molecules that bg
control the function,

development and the
ultimate appearance of
individuals).
What is Genetics? > Heredity
It is the transmission
of genetically based
characteristics from
one generation to
another.
What is Genetics? > Heredity
These characteristics
(traits) are carried on
genes.
Module Lessons
pic
Module 1
Introduction to
g e m
Genetics g g g

Overview
Genetics? Theories
bg
Lessons
Assignment a
Analysis of
Genetic Data
Early
Theories on ef
Hereditary
Early Theories on Hereditary
The existence of
biological hereditary
is obvious in the
resemblance of
children to their
parents.
It is long known
that in humans and
animals, the sexual
act is involved in
procreation
It was assumed that

semen was the
carrier of heredity,
but how this was
accomplished
proved difficult to
establish
Historical Theories of Inheritance
Preformation Epigenesis Lamarckism Pangenesis Germplasm Mendelism

Jan Swammerdam Caspar F. Wolff & Jean-Baptiste Charles August Gregor
& Charles Bonnet Karl Ernst von Baer Lamarck Darwin Weismann Mendel
1665 1759 1830 1868 1880 1900

Epigenesis Lamarckism Pangenesis Germplasm Mendelism
Caspar F. Wolff & Jean-Baptiste August Gregor
Preformation
Charles
Karl Ernst von Baer Lamarck Darwin Weismann Mendel
Jan Swammerdam
& Charles Bonnet
Gametes contained a
miniature individual with all
the parts of the adult, and
that it developed through
i
growth and solidification.
1665 1759 1830 1868 1880 1900

Preformation
Charles
Jan Swammerdam
& Charles Bonnet
Homunculus
The human body were
already preformed in the
spermatozoon.
1665 1759 1830 1868 1880 1900

Preformation
Charles
Jan Swammerdam
& Charles Bonnet
Development was simply a matter

of growth of the tiny homunculus
i
There were the “spermatist” and

the “ovist”
1665 1759 1830 1868 1880 1900

Preformation Lamarckism Pangenesis Germplasm Mendelism
Jan Swammerdam Jean-Baptiste August Gregor
Epigenesis
Charles
& Charles Bonnet Lamarck Darwin Weismann Mendel
Caspar F. Wolff &

Karl Ernst von Baer
Sex cells are largely homogenous bits

of organic matter and contains nothing
e
resembling the body that will develop

from them.
1665 1759 1830 1868 1880 1900

Epigenesis
Charles
Caspar F. Wolff &

Karl Ernst von Baer
Organisms develop from

substances present in the
egg, which changes
e
during embryonic
development
1665 1759 1809 1868 1880 1900

Epigenesis
Charles
Caspar F. Wolff &

Karl Ernst von Baer
Organisms are not

already present in the
fertilized egg. They arise
as a consequence of e
profound changes in
shape and form during
the course of
embryogenesis.
1665 1759 1809 1868 1880 1900
Epigenesis
Charles
Caspar F. Wolff &

Karl Ernst von Baer
They provided a fairly

accurate description of
the embryonic
development of a chick, e
where there is a gradual

change from the egg to
the fetus and finally to
the adult body.
1665 1759 1830 1868 1880 1900

Preformation Epigenesis Pangenesis Germplasm Mendelism
Jan Swammerdam Caspar F. Wolff & August Gregor
Lamarckism
Charles
& Charles Bonnet Karl Ernst von Baer Darwin Weismann Mendel
Jean-Baptiste
Lamarck
Evolution was the result of

acquired characteristics
accumulated over many
generations; and that an
organism can pass on
e
characteristics acquired
during its lifetime to its
offspring
1665 1759 1830 1868 1880 1900
Preformation Epigenesis Pangenesis Germplasm Mendelism
Jan Swammerdam Caspar F. Wolff & August Gregor
Lamarckism
Charles
& Charles Bonnet Karl Ernst von Baer Darwin Weismann Mendel
Jean-Baptiste
Lamarck
Organisms acquire traits during their

life times and then pass on those traits
through their sex cells to their e
offspring (e.g. tattoo or scar would be

inherited as tattoo or scar)
1665 1759 1830 1868 1880 1900

Preformation Epigenesis Lamarckism Germplasm Mendelism
Jan Swammerdam Caspar F. Wolff & Jean-Baptiste August Gregor
& Charles Bonnet Karl Ernst von Baer Lamarck Pangenesis Weismann Mendel
Charles Darwin
The theory was based on

Lamark’s theory of acquired
characteristics.
Every structure which is inherited

e
will pass on its characteristics by

contributing a small amount to
the semen.
1665 1759 1830 1868 1880 1900
Charles Darwin
Particles (pangenes or gemmules)

formed in each body part are
transported through the blood e
vessels to sperms/eggs and then

inherited by offsprings
1665 1759 1830 1868 1880 1900

Charles Darwin
The similarity between parents

and offspring was accounted for
by postulating that, the pangenes
or gemmules formed in each part
of the body reflected the e
characteristics of that part
Supported by Aristotle and others

and prevailed into the 19th
Century.
1665 1759 1830 1868 1880 1900
Preformation Epigenesis Lamarckism Pangenesis Mendelism
Jan Swammerdam Caspar F. Wolff & Jean-Baptiste Charles Gregor
& Charles Bonnet Karl Ernst von Baer Lamarck Darwin Germplasm Mendel
August Weismann
The first serious challenge to the

theory of pangenesis was made
by August Weismann
He proposed instead, the germ-

e
plasm theory.
(Read more about this theory)
1665 1759 1830 1868 1880 1900

Preformation Epigenesis Lamarckism Pangenesis Germplasm
Jan Swammerdam Caspar F. Wolff & Jean-Baptiste Charles August
& Charles Bonnet Karl Ernst von Baer Lamarck Darwin Weismann Mendelism
Gregor Mendel
Who was Gregor Johann Mendel ?

Learn More
1665 1759 1830 1868 1880 1900

Module Lessons
pic
Module 1
Introduction to
g e m
Medical Genetics g g g

Overview
Genetics? Theories
bg
Lessons
Assignment a
Analysis of
Genetic Data
Mendelism
(Mendelian Genetics)
m
f
Gregor Johann Mendel
Austrian Monk and Botanist
Education Work
Botany and Mathematics Monastic duties and groundbreaking

series of inheritance
Achievements
The first to lay the basic laws of

heredity during the mid-1800s
Worked with the common
pp
garden pea plant, Pisum sativum

Referred to as “The Father of
Genetics”
Reasons in choosing the Pea Plant
1 Annual Plant
Easy to cultivate with relatively
short life cycle
2 Discontinuous Characteristics pp
such as flower color and pea texture
3 Perfect Flowers
(i.e. both female and male parts are present on
one plant) and can be self-fertilized (i.e. the ovule
is fertilized by pollen from the same flower.
Reasons in choosing the Pea Plant
Single Trait
Paid attention to a single trait at a time e.g.
the shape of the seeds rather the whole plant.
pp
7 Characteristics of the Pea Plant
bg
that are easily recognized and only occur in one of two forms:
1 Flower Colour Purple (Violet) White
2 Flower Position
Axial Terminal
3 Stem Length
Long Short
4 Seed Shape Round Wrinkled

7 Characteristics of the Pea Plant
bg
3 that are
Stem easily recognized and only occur in one of two forms:
Length
Long Short
4 Seed Shape Round Wrinkled
5 Seed Colour Yellow Green
6 Pod Shape Inflated Constricted
7 Pod Colour Yellow Green

Education Work A
Botany and Mathematics Monastic duties and groundbreaking Q

Achievements
The first to lay the basic laws of

heredity during the mid-1800s
Worked with the common
pp
garden pea plant, Pisum sativum

Referred to as “The Father of
Genetics”
Work Approach
cs Monastic duties and groundbreaking Quantitative Approach

He counted the number

c laws of of progeny of each kind
d-1800s to ascertain whether
Worked with the common carriers of alternate
pp
garden pea plant, Pisum sativum traits always appeared

ther of
in the same proportions
Approach Experiments
s and groundbreaking Quantitative Approach Mendel’s Laboratory

ance
He counted the number

of progeny of each kind
to ascertain whether
e common carriers of alternate
pp
nt, Pisum sativum traits always appeared

in the same proportions
Mendel’s Laboratory
Terminologies
First Experiment
Second Experiment
Terminologies
Gene
It is the basic unit of
inheritance for a particular
characteristic or trait
Brown eye colour

Terminologies
Gene
A threadlike double-helical
macromolecule called
deoxyribonucleic acid
(DNA).
Terminologies
Alleles
The different forms of a gene that
determines alternate traits
One of a number of alternate forms

of the same gene responsible for
Allele for brown
determining contrasting eye colour
characteristics
Allele for blue
eye colour
Terminologies
Locus
The position of an allele
within a DNA molecule
Locus for eye

colour gene
Terminologies
Dominance
The ability of one allele to
express its phenotype at the
expense of an alternate allele
Dominant Recessive
Allele B b Allele
Brown eye colour

Terminologies
Recessiveness:
This is where the expression
of an allele is masked by an
alternate allele
Dominant Recessive
Allele B b Allele
Brown eye colour

Terminologies
Recessiveness:
The expression of the recessive
allele can only be seen when
there are two copies of that
allele at a locus
Recessive Recessive
Allele b b Allele
Blue eye colour

Terminologies
Homozygous
Zygotes of individual organisms
carrying two units of one allele
Dominant Recessive
Allele B b Allele
Terminologies
Heterozygous
Zygotes of individual organisms
carrying two different alleles
(Bb or Dd)
Dominant Recessive
Allele B b Allele
Brown eye colour

Terminologies
Phenotype
The visible expression of a trait or
it is any measurable characteristic Bb Bb
or distinctive trait possessed by
an organism
It is the result of gene products

Trait
brought to expression in a
given environment
Phenotype
Brown eye colour

Terminologies
Genotype
The type of genes an organism T t
possesses. Or it is all the alleles
possessed by an individual
Genotype
B b
Terminologies
Monohybrids
The offspring of two parents that are
homozygous for alternate alleles of
a gene pair e.g. BB or bb
B b
Terminologies
Monohybrid Cross
A cross between parents that
differ at a single gene pair
(usually BB x bb)
B x b
Bb
Brown eye colour

Terminologies
First Experiment
Second Experiment
First Experiment
Purebred
Plants which always produced
offspring whose traits were exactly
like that of the parent plants
Purebred Tall (DD) Purebred Short (dd)

First Experiment
Parental Generation
P1 Generation
DD x Principles of Segregation dd
First filial
F1 Generation
Hybrids
Dd Dd Dd Dd
First Experiment
Principles of Segregation
Parental Generation
Alleles DD dd P1 Generation
x
Gametes Purity of
D D d d
gametes
First filial
F1 Generation
Progeny Dd Dd Dd Dd
Hybrids
Dd Dd Dd Dd
First Experiment
The separation of paired genes
(allelic pairs) from one another and
are distributed to different sex cells.
First Experiment
Testing the Principle of Segregation
Parental Generation
P1 Generation
DD x Principles of Segregation dd
First filial
F1 Generation
Hybrids
Dd Dd Dd Dd
First Experiment
It must be noted that, the
separation of the alleles could be The dwarf could
detected only in the heterozygous produce only one
parent (Dd) that produced two kind of gamete (d)
different kinds of gametes (D) and
(d) P1 Generation
Backcross
W
h
e
r
e
F
1
(
p
r
o
F1 Generation
g
e
n
y
)
i
s
m
a
t
e
d
o
r
c
r
o
s
s
e
d
b
a
c
Dd x
k
t
o
dd
o
n
e
o
f
t
h
e
i
r
p
a
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e
n
Principles of Segregation t
s
o
r
w
i
t
h
a
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d
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v
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s
a
p
a
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e
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t
a
l
g
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n
o
t
y
p
e
Dd Dd dd dd
First Experiment
Recessiveness
F1 Generation P1 Generation
Dd x Principles of Segregation dd
Recessive alleles
are expressed only
in homozygous
(dd) individuals
Dd Dd dd dd
First Experiment
Recessiveness
F1 Generation P1 Generation
Dd x dd
Carriers (Dd) are
not detectable
phenotypically
Dd Dd dd dd
First Experiment
Recessiveness
Recessive alleles can be identified

experimentally by crossing potential
F1 Generation
carriers to homozygous recessive
A
Testcross
c
r
o
s
s
o
f
a
n
o
r
g
a
n
i
s
m
w
individuals (i. e. Dd x dd).

i
t
h
a
n
u
n
k
n
o
w
n
g
e
n
o
t
Dd x
y
p
dd
e
t
o
a
k
n
o
w
n
h
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m
o
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y
g
o
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s
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g
a
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m
Dd Dd dd dd
First Experiment
Recessiveness
Testcross
experimentally
A cross of anbyorganism
crossing with
potential
an
F1 Generation
carriers to homozygous
unknown genotype recessive
to a known
individuals (i. e. Dd
homozygous x dd). organism
recessive
?? x Principles of Segregation dd
v
e
r
y
u
s
e
f
u
l
i
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g
e
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dd dd
y
p
Dd Dd
e
s
o
f
i
n
d
i
v
i
d
u
a
l
o
r
g
a
n
i
s
m
s
First Experiment
Recessiveness
Testcross
experimentally
A cross of anbyorganism
crossing with
potential
an
F1 Generation
carriers to homozygous
unknown genotype recessive
to a known
individuals (i. e. Dd
homozygous x dd). organism
recessive
?? x Principles of Segregation dd
very useful in genetics in determining

the genotypes of individual organisms
(i.e. either homozygous or
heterozygous of a trait).
First Experiment
Backcross
F1 Generation
The F (progeny) is mated or
P1 Generation1
crossed back to one of their
Dd x
parents or with an individual that
dd
has a parental genotype
Useful in genetics studies for

isolating (separating out) certain
characteristics in a related group
of animals or plants
Dd Dd dd dd
First Experiment
Difference between Testcross and Backcross
In testcross, a recessive
homozygote is always
A
Testcross
c
r
o
s
s
o
f
a
n
o
r
g
a
n
i
s
m
w
i
t
used as one of the

h
Dd
a
x
dd
n
u
n
k
n
o
w
n
g
e
n
o
t
y
p
e
t
Principles of Segregation o
a
k
n
o
testcross parent
w
n
h
o
m
o
z
y
g
o
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s
r
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c
e
s
s
i
v
e
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g
a
n
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m
This is not necessarily

true in a backcross
v
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s
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f
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p
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s
o
dd dd
f
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Dd Dd
d
i
v
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d
u
a
l
o
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g
a
n
i
s
m
s
(
i
.
e
.
e
First Experiment
Difference between Testcross and Backcross
In testcross, a recessive
homozygote is always
A
Testcross
c
r
o
s
s
o
f
a
n
o
r
g
a
n
i
s
m
w
i
t
used as one of the

h
DD
a
x
dd
n
u
n
k
n
o
w
n
g
e
n
o
t
y
p
e
t
Principles of Segregation o
a
k
n
o
testcross parent
w
n
h
o
m
o
z
y
g
o
u
s
r
e
c
e
s
s
i
v
e
o
r
g
a
n
i
s
m
This is not necessarily

true in a backcross
v
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r
y
u
s
e
f
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l
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g
e
n
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t
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Dd Dd
f
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Terminologies
First Experiment
Second Experiment
Second Experiment
What happens when two traits (dihybrid) are

considered simultaneously?
Principle of Independent Assortment

Round, yellow Wrinkled, green
seed seed
Genes or Alleles for different
characters are inherited independently
of one another
RRYY x rryy
Second Experiment
P1
RRYY x rryy
Gametes RY GPrinciples of Independent Assortment

e
n
e
s
ry
f
o
r
d
i
f
f
e
r
e
n
t
c
h
a
r
a
c
t
e
r
s
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n
t
l
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f
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n
e
a
n
o
t
h
e
r
F1
RrYy
Second Experiment
Self Fertilization
F1
What was the ratio of the four possible combinations
of the two Rseed
rYy
characteristics?
Round, yellow Wrinkled,Occur

yellow in equal
Gametes RY Ry rY ry
frequencies
Round, green Wrinkled, green

F2 Using the Punnett square the following
genotypes and phenotypes together
with their ratios are obtained at F2
Gametes
RY Ry ry rY
𝟏 𝟏 𝟏 𝟏
𝟒 𝟒 𝟒 𝟒
RRYy RrYy RrYY

RY
𝟏
𝟒 𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
RRYy RRyy Rryy RrYy

Ry
𝟏
Gametes
𝟒 𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
𝟏 RrYy Rryy rryy rrYy

ry 𝟒
𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
𝟏 RrYY RrYy rrYy rrYY

rY 𝟒
𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
RY Ry ry rY
𝟏 𝟏 𝟏 𝟏
𝟒 𝟒 𝟒 𝟒
RRYY RRYy RrYy RrYY

RY
𝟏
𝟒 𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
RRYy RRyy Rryy RrYy

Ry
𝟏
𝟒 𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
RrYy Rryy rryy rrYy

Gametes
𝟏
ry 𝟒
𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
𝟏 RrYY RrYy rrYy rrYY

rY 𝟒
𝟏 𝟏 𝟏 𝟏
𝟏𝟔 𝟏𝟔 𝟏𝟔 𝟏𝟔
9 :3 :3 :1
Second Experiment
What was the genotypic ratio for this F1 x F1

dihybrid ratio?
Mathematically, the results look like two monohybrid
crosses (each expected to result in a 3:1 ratio),
operating556
seeds
together.
(3:1)2 or (3+1)2 = (9+3+3+1)

315 108 101 32
This conforms to the law of probability
called the “Product Rule”
9 3 3 1
Second Experiment
Understanding of this principle is one

of the key components considered in
the design of many experiments in
plant and animal breeding aimed at
improving the quantity and quality of
agricultural and animal products.
Second Experiment
When a 9:3:3:1 ratios result in

experiments from which parental
genotypes are not known, geneticists
or medical geneticists may postulate
that two independent pairs of alleles
are involved and that, one member of
each pair behaves like dominant over
its allele.
Second Experiment
Dihybrid Backcross with the recessive P1
F1 P1
RrYy rryy
Gametes RY Ry rY ry ry
Second Experiment
Dihybrid Backcross Ratios
F1 P1
RrYy rryy
Gametes RY Ry rY ry
ry
RrYy Rryy rrYy rryy
1 : 1 : 1 : 1
Second Experiment
Dihybrid Backcross Ratios
Genotypic Phenotypic
Phenotypes Genotypes
Frequency Frequency
Round, Yellow RrYy 1 1
Round, Green Rryy 1 1
Wrinkled, Yellow
rrYy 1 1
Wrinkled, Green rryy 1 1

Second Experiment
Trihybrid Ratios
A cross between homozygous parents that differ in

three gene pairs is a combination of three-pair
crosses operating together as:
AABBCC X aabbcc
(AA X aa) (BB X bb) and (CC X cc)

Second Experiment
Trihybrid Ratios Example:
A cross in which the seed (ovum) parent is

homozygous for the genes producing a tall,
yellow and round vine seeds (DDGGWW) and
the pollen (sperm) parent is homozygous for
dwarf, green and wrinkled vine seeds (ddggww)
can best answer the question.
Second Experiment
Trihybrid Backcross Example:
P:
DDGGWW x ddggww
How many gametes can
Gametes be
DGWformed with thedgw
F1
(DdGgWw) ?
F1
DdGgWw
Second Experiment
Trihybrid Ratios Example:
F1 P
DdGgWw x ddggww
A 1:1:1:1:1:1:1:1 ratio is expected
Gametes from
DGWa trihybrid
DGw DgW backcross
Dgw to the
dgw
recessive parent
dGW dGw dgW dgw
Second Experiment
Trihybrid Backcross Ratio Example:
F1 P1
DdGgWw x ddggww
Gametes DGW DGw DgW Dgw dGW dGw dgW dgw
dgw
DGW DGw DgW Dgw dGW dGw dgW dgw

dgw dgw dgw dgw dgw dgw dgw dgw
1 : 1 : 1 : 1 : 1 : 1 : 1 : 1
Frequencies
Phenotypes Genotypes Genotypic Phenotypic
Tall, Yellow, Round DdGgWw 1 1
Tall, Yellow, Wrinkled DdGgww 1 1
Tall, Green, Round DdggWw 1 1
Tall, Green, Wrinkled Ddggww 1 1
Dwarf, Yellow, Round, ddGgWw 1 1
Dwarf, Yellow, Wrinkled ddGgww 1 1
Dwarf, Green, Round ddggWw 1 1
Dwarf, Green, Wrinkled ddggww 1 1

Second Experiment
Trihybrid Ratios
How do we solve a two trihybrid F1 cross using

the Punnet square?
A less tedious method called

the Forked-Line or Branching
F1 Method is used F1
DdGgWw x DdGg Ww
Second Experiment
Trihybrid Ratios Forked-Line Method
Procedure:
1 Assume each of the three characters is acting separately
F1 F1
DdGg Ww DdGg Ww
Second Experiment
Procedure:
2 Cross the genotypes of each character separately like
in monohybrid cross
If one member of each pair is dominant, a

3:1 phenotypic ratio would be predicted
F1 F1
from each monohybrid cross
DdGg Ww DdGg Ww
Dd x Dd Gg x Gg Ww x Ww
Second Experiment
Procedure:
3 Since the three pairs are independent, each monohybrid
segregant may occur with any combination possible
from each pair of alleles
F1 F1
DdGg Ww DdGg Ww
Dd x Dd Gg x Gg Ww x Ww
Procedure:
4 The combinations can therefore be systematically
arranged together
3 round = 27 tall, yellow, round

3 yellow 1 wrinkled = 9 tall, yellow, wrinkled
3 tall
3 round = 9 tall, green, round
1 green
1 wrinkled = 3 tall, green, wrinkled
3 round = 9 dwarf, yellow, round

3 yellow 1 wrinkled = 3 tall, yellow, wrinkled
1 dwarf
3 round = 3 dwarf, green, round
1 green
1 wrinkled = 1 dwarf, green, wrinkled
Second Experiment
Dihybrid Ratios Forked-Line Method
The same forked-line system may be employed

to represent and combine genotypes expected
from monohybrid crosses
For each monohybrid cross in the system, a

genotypic ratio of 1:2:1 may be predicted
Second Experiment
Dihybrid Ratios Forked-Line Method
P1
GGWW x ggww
F1
GgWw x GgWw
Gg x Gg Ww x Ww
Genotypes
GG 2Gg gg WW 2Ww ww
Second Experiment
WW 1GGWW
Genotypes
GG 2Ww 2GGWw
ww 1GGww
WW 1GgWW
2Gg 2Ww 4GgWw

ww 2Ggww
WW 1ggWW
gg 2Ww 2ggWw
ww 1ggww
Second Experiment
Trihybrid Ratios Exercise
Using the forked-line method, diagram a cross of

DdGgWw x DdGgWw
Show the phenotypes, genotypes, genotypic frequency

as well as the phenotypic frequency. Assume that one
member of each pair is dominant.
Second Experiment
Trihybrid Ratios Exercise Hint
1 The number of gametes, genotypes, and
phenotypes expected from different numbers
of heterozygous pairs of genes can be
calculated without going through the Punnet
square or the Forked-line.
2 The number of kinds of gametes is a multiple

of 2, i.e. 2n
3 The number of F2 genotypes is a multiple of

3, i.e. 3n
1 The number of gametes, genotypes, and
Second Experiment
phenotypes expected from different numbers
of heterozygous pairs of genes can be
calculated without going through the Punnet
square or the Forked-line.
2 The number of kinds of gametes is a multiple

of 2, i.e. 2n
3 The number of F2 genotypes is a multiple of

3, i.e. 3n
4 The number of phenotype is 2n when dominance

is present
is present
5 Relationships among Pairs of Independent

alleles, Gametes, F2 Genotypes, and F2
Phenotypes when dominance is present.
Number of Number of Number of F2 Number of F2
Heterozygous kinds Genotypes Phenotypes
Pairs of Gametes
1 2 3 2
2 4 9 4
3 8 27 8
4 16 81 16
n 2n 3n 2n
Terminologies
First Experiment
Second Experiment
Summary
Summary
Mendel’s Laws of Genetics (Most Popular)
1 Mendel’s law of Segregation
2 Mendel’s law of Independent Assortment
3 Mendel’s law of Dominance
Assignment
Assignments
pic
Module 1
Assignment
g 1 Assignment
g 2
Introduction to
Medical Genetics
Overviewbg
Lessons
Assignment
Assignments
pic
Module 1 Assignment 1
Introduction to
Medical Genetics 1 How many different gametes, F2 phenotypes
and F2 genotypes can potentially be produced
Overviewbg
from individuals of the following genotypes?
g
Lessons i. AaBb
Assignment
ii. AaBB
iii. AABbccDdEE
Assignments
pic
Introduction to
Medical Genetics 2 A pure strain of Mendel’s peas, dominant for all
seven of his independently assorting genes,
was testcrossed.
Overviewbg
g
Lessons a) How many different kinds of gametes could
each of the parents produce?
Assignment
b) How many different gametes could the F1

produce?
Assignments
pic
Introduction to
Medical Genetics 2
c) If the F1 was testcrossed, how many
phenotypes would be expected in the
Overview
offspring and in what proportion?
bg
g
Lessons
d) How many genotypes would be expected in
Assignment
the F2?
Assignments
pic
Module 1
Assignment
g 1 Assignment
g 2
Introduction to
Medical Genetics Submission date:
?/02/2020
Overview
Answers
bg
Lessons
Assignment
Module Lessons
pic
Module 1
Introduction to
g e m
Medical Genetics g g g
l

Overview
Genetics? Theories
bg
Lessons
Assignment a
Analysis of
Genetic Data
Analysis of
Genetic f a
Data
Probability and the Chi-Square Test
Probability and Genetic Events
Probability Theory
Number of defined outcome(s)

Probability of =
occurrence (P) Total number of possible outcomes
Probability Theory
Example
The probability of
getting a head
from a toss of a
coin is 1/2
Probability Theory Basic Terms
1 Sample Space
The set of all possible
outcomes of an {Head, tail}
experiment or
random trial
{1,2,3,4,5,6}
Probability Theory Basic Terms
2 Event
Any subset of the sample space
a Ordered Event b Unordered Event
Head Tail Tail Tail

Probability of Multiple Events
1 The Rule of Independent Events
2 The Product Rule
3 The Sum Rule
4 Binomial Expansion/Distribution

The occurrence of past events have no
influence on that of future events
2 The Product Rule
3 The Sum Rule
2 The Product Rule

The probability of independent
events occurring together is
equal to the product of their
individual probabilities
3 The Sum Rule

Independence
2 The Product Rule
E.g. Means that one event occurring has no
if the p(A) = effect on the probability of the other
0.7, then,
p(AA) = 0.7 X 0.7 = 0.49event occurring
3 The Sum Rule
Questions
What is the probability of a couple
1
2 The Product Rule
having 5 boys in a row?
E.g.
2 What is the probability of tossing a coin
if the p(A) = 0.7, then,
twice and getting one head and one tail?
p(AA) = 0.7 X 0.7 = 0.49
3If 2 coins are tossed, what is the chance
3 that the toss will yield 2 unmatched sides?
The Sum Rule
2 The Product Rule
3 The Sum Rule

The probability of either of 2 or more
independent events occurring is equal to
the sum of their individual probabilities
Probability
2 and Rule
The Product Genetic Events
Probability
3 of Multiple Events
Independence
3 The Sum Rule

E.g.
What is the probability of a couple having
either a boy or a girl?
Probability
2 and Rule
Probability
Independence
3 The Sum Rule
The probability of occurrence of some
arrangement of two mutually exclusive trials,
where the final order is not specified, is defined
by the binomial theorem:
P = (n!/s!t!)(psqt)
Probability
2 and Rule
Probability
Independence
3 The Sum Rule
In probability theory, events E1, E2, ..., En are said to
P = be
(n!/s!t!)(p
mutuallysqt)
exclusive if the occurrence of any one
of them automatically implies the non-occurrence
n = number
of theof trials
remaining n − 1 events. Therefore, two
p = probability
mutuallyofexclusive
an eventevents
occurring on any
cannot bothgiven
occurtrial
q = probability of the event not occurring
s = number of times an event occurs
t = number of times an opposite event occurs
Probability
3
and Genetic Events
Independence
Probability
4 The Sumof Multiple Events
Rule
Example:
A would be couple plan to have
five children when they marry.
Determine the probability of the
couple having 3 girls and 2 boys.
Probability
3
and Genetic Events
Independence
Probability
Rule
Solution
P = (n!/s!t!)(psqt)
n=5
s=3
t=2
p = 1/2
q = 1/2
Probability
3
and Genetic Events
Independence
Probability
Rule
Solution
P = (5!/3!2!)(1/2)3(1/2)2
P = 10(1/2)3(1/2)2
P = 10/32
Probability
3
and Genetic Events
Independence

Example:
If four babies are born at a given
hospital on the same day: y
a) What is chance that two

will be boys and two
girls?
b) What is the chance that
all four will be girls?
Probability
3
and Genetic Events
Independence

x
Example:
A man and his wife who are both
heterozygous for albinism plan to
have four children. Use the
information to answer the
following questions.
a) What is the probability that

any given child will be normal?
Probability
3
and
hisGenetic
Independence
A man and Events
wife who are both
heterozygous for albinism plan to
have four children. Use the
5 information tox answer the
Binomial Expansion/Distribution
following questions.
Example:
a) What is the probability that
b) What is the probability that all

of them would be normal?
c) What is the probability that all

of them are normal except the
2nd child?
information to answer the
Probability
3
followingand
Independence Genetic Events
questions.
Probability
a) Whatof Multiple
is the Events
probability that
x
Example:
b) What is the probability that all
of them would be normal?
c) What is the probability that all

of them are normal except the
2nd child?
d) What is the probability of

having an albino child among
the four children?
Evaluating Genetic Data: Chi-Square Analysis
The Chi-Square (χ2) Test
Mendel’s 3:1 monohybrid and 9:3:3:1 dihybrid ratios
are hypothetical predictions based on the
following assumptions:
1 Dominance/Recessiveness
2 Segregation
3 Independent assortment
4 Random fertilization
Mendel’s 3:1 monohybrid and 9:3:3:1
dihybrid ratios are hypothetical predictions
based on the following assumptions:
2 Segregation
can be affected by chance
3 Independent assortment and thus influenced by
normal deviation
4 Random fertilization (Chance Deviation)
2 Segregation Chance Deviation

1 Can alter observed
3 Independent assortment
Mendelian ratios
4 Random fertilization 2 Affected by sample size
The greater the sample size
the lesser the possibility of
chance deviation occurring.
The reverse is also true.
Chi-Square (χ2) Distribution
1 It allows one to determine whether or not
a deviation from expected Mendelian ratio
can be attributed solely to chance
2 It also compares observed distribution to expected distribution

(based on genetic hypotheses) and mathematically assesses whether
or not the calculated χ2 value is due to chance or a real difference
between the two distributions
3 It is dependent upon the sample size

1 It allows one to determine whether or not a deviation from
expected Mendelian ratio can be attributed solely to chance
2 It also compares observed distribution to expected

distribution (based on genetic hypotheses) and
mathematically assesses whether or not the
calculated χ2 value is due to chance or a real
difference between the two distributions

1 It allows one to determine whether or not a deviation from
expected Mendelian ratio can be attributed solely to chance
2 It also compares observed distribution to expected distribution (based on

genetic hypotheses) and mathematically assesses whether or not the calculated
χ2 value is due to chance or a real difference between the two distributions

Calculation of Chi-Square Statistic
The observed value
for a given category
2
O −E
χ2 = ∑
E
The expected value
for that category
Since (o-e) in each

case is the deviation,
2
then,
𝐎 −𝐄
χ2 = ∑
E
The equation can be
reduced to:
χ2 = ∑d2/e
Problem Solving
Mary, a medical genetics student and a
would-be graduate food technologist
decided to test the 3:1 Mendelian ratio.
She obtained
χ2 = ∑d1000
2/eseeds in the following
y
proportions:
Tall: 740
Dwarf: 260
Calculate the p-value and also infer if her

results closely fit the 3:1 ratio.
Step 1: Chi-Square Analysis
a Hypothetical Monohybrid Cross
Expected Observed Expected Deviation Deviation2 Deviation2 (d2)
Ratio (o) (e) (o-e) (d2) 𝐄𝐱𝐩𝐞𝐜𝐭𝐞𝐝 (𝐞)
3
χ2 = ∑d2/e 100
= 0.13
3
740 (1000) = 750 740 – 750 =-10 (+10) 2 = 100
4 4 750
1 (-10) 2 = 100 100

= 0.410
1
260 (1000) = 250 260 -250 = 10
4 4 250
Total = 1000 P = 0.48 ∑X2 =0.53

Step 2: Interpretation of χ2 Value
1 Calculate Degrees of freedom (d/f)
d/fd/f
== 2 –n 1- =
11
D/f must always be taken into account
n = the
For the 3:1 because
number
ratio, of
n= 2 the greater
different theinto
categories number of
categories,
which each datum thefall
point may more deviation is
expected due to chance
The d/f for the 9:3:3:1 ratio is 3
2 Convert the χ2 value to the corresponding probability
value (p), using a prepared chart or graph
a Compare your calculated χ2 value to the χ2

value on the table at 5%.
b If your calculated χ2 is larger than the χ2 from the

table at 5% (i.e. p > 0.05), then the difference is
due solely to CHANCE, and therefore the
observed numbers fit a particular ratio
Problem Solving
In the F2 generation of a certain tomato
experiment, Francesca decided to test the
9:3:3:1 Mendelian ratio. She obtained 1000
seeds inχthe
2 = following
∑d2/e proportions: y
583 round yellow
195 round green
166 wrinkled yellow
56 wrinkled green
Are the discrepancies between the observed
and expected ratios acceptable?
Step 1: Chi-Square Analysis
b Hypothetical Dihybrid Cross
Expected Observed Expected Deviation Deviation2 Deviation2 (d2)
Ratio (O) (e) (o-e) (d2) 𝐄𝐱𝐩𝐞𝐜𝐭𝐞𝐝 (𝐞)
9 χ2 = ∑d2/e
583 563 +20 400 0.71
16
3 64
195 187 +8 0.34
16
3
166 187 -21 441 2.36
16
1
56 63 -7 49 0.77
16
Total = 1000 P = 0.26 ∑X2 =4.18

Using the dihybrid cross above, where p = 0.26

as an example:
1 The probability is 26% or about 1 in 4, that

the deviation was due to chance.
2 The second interpretation is that, were the

same experiment repeated many times, 26%
of the trials would be expected to exhibit
chance deviation.
Is 0.26 an acceptable or unacceptable p value?
1 The decision is relative and depends on the

certainty of the investigator
2 By conversion, 0.05 (5%) has been chosen as

an arbitrary standard
Is 0.26 an acceptable or unacceptable p value?
1.00 0.99 0.50 0.20 0.05 0.01 0.001
Acceptable Unacceptable
0.26 is much above 0.05 (5%)

and therefore acceptable
In other words, our data are consistent

with the hypothesis of a 9:3:3:1 ratio of
phenotypes, which is indicative of a two-
locus genetic model with dominance at
each locus. B b
Note
Were the p value below this standard,
When the χ test shows that there is no
2
we would have rejected
If there the
is hypothesisdifference
significant
significant difference
for the experiment. The data would then
between the
between
observed andthem “we reject
expected the then
samples
be interpreted as unacceptable in fitting
“we fail to hypothesis”.
reject the hypothesis” i.e.
a 9:3:3:1 ratio.
we accept.
Assignments
pic
Module 1
Assignment
g 1 Assignment 2
a2
Introduction to
Medical Genetics
Overviewbg
Lessons
Assignment
Assignments
pic
Introduction to
Medical Genetics 1 A heterozygous genetic condition called “creeper”
in chickens produces shortened and deformed
Overview
legs and wings, giving the bird a squatty
appearance. Matings between creepers produced
bg
a2
Lessons
775 creeper : 388 normal progeny.
Assignment
(a) Is the hypothesis of a 3:1 ratio acceptable?
(b) Does a 2:1 ratio fit the data better?
Assignments
pic
Introduction to
Medical Genetics 2 In a series of experiments, an investigator
sought to use the Chi square test to
Overview determine the goodness of fit for each of
her results above. Carry out the calculation
bg
a2
Lessons
and determine whether the results obtained
Assignment in each case are consistent with the 3:1 ratio
she predicted in her hypothesis. Comment
on your conclusion.
Assignments
pic
Introduction to
Medical Genetics F1 F2
Dominant Recessive Total
Overviewbg
Round vs. wrinkled
(all round) 5474 1850 7324
a2
Lessons
Assignment Yellow vs. green

6022 2001 8023
(all yellow)
Assignments
pic
Module 1
Assignment
g 1 Assignment 2
a2
Introduction to
Medical Genetics Submission date:
?/02/2020
Overviewbg
Lessons
Assignment
Module 1
End of Module 1
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What accounts for

What accounts for

What is Early Mendelism

It is that branch of Biology

It is concerned with the

control the function,

What is Early Mendelism

It was assumed that

Preformation Epigenesis Lamarckism Pangenesis Germplasm Mendelism

1665 1759 1830 1868 1880 1900

growth and solidification.

1665 1759 1830 1868 1880 1900

1665 1759 1830 1868 1880 1900

Development was simply a matter

There were the “spermatist” and

1665 1759 1830 1868 1880 1900

Caspar F. Wolff &

Sex cells are largely homogenous bits

resembling the body that will develop

1665 1759 1830 1868 1880 1900

Caspar F. Wolff &

Organisms develop from

1665 1759 1809 1868 1880 1900

Caspar F. Wolff &

Organisms are not

Caspar F. Wolff &

They provided a fairly

where there is a gradual

1665 1759 1830 1868 1880 1900

Evolution was the result of

Organisms acquire traits during their

offspring (e.g. tattoo or scar would be

1665 1759 1830 1868 1880 1900

The theory was based on

Every structure which is inherited

will pass on its characteristics by

Particles (pangenes or gemmules)

vessels to sperms/eggs and then

1665 1759 1830 1868 1880 1900

The similarity between parents

characteristics of that part

Supported by Aristotle and others

The first serious challenge to the

He proposed instead, the germ-

(Read more about this theory)

1665 1759 1830 1868 1880 1900

Who was Gregor Johann Mendel ?

1665 1759 1830 1868 1880 1900

What is Early Mendelism

Botany and Mathematics Monastic duties and groundbreaking

The first to lay the basic laws of

garden pea plant, Pisum sativum

such as flower color and pea texture

1 Flower Colour Purple (Violet) White

4 Seed Shape Round Wrinkled

4 Seed Shape Round Wrinkled

5 Seed Colour Yellow Green

6 Pod Shape Inflated Constricted

7 Pod Colour Yellow Green

Botany and Mathematics Monastic duties and groundbreaking Q

The first to lay the basic laws of