Mendels Law of

Genetics and Heredity

Dr. Muhammad Arif
Principal Scientist
NIBGE

Topics
Mendels Work on Peas
Mendels Findings
Monohybrid Cross
Dihybrid Cross
GlossaryGenotype, Phenotype, Dominance,
Recessive, Heterozygous, Homozygous
Mitosis
Meiosis

Phenotype & Genotype

Phenotype - the way an organism

looks

red hair or brown hair

genotype - the gene combination

of an organism

AA or Aa or aa

Heterozygous &
Homozygous

Heterozygous - if the two

alleles for a trait are different
(Aa)
Homozygous - if the two alleles
for a trait are the same (AA or
aa)

Dihybrid vs Monohybrid
Dihybrid Cross - crossing
parents who differ in two
traits (AAEE with aaee)
Monohybrid Cross - crossing
parents who differ in only
one trait (AA with aa)

Mendels work

Bred pea plants

cross-pollinated true breeding parents (P)

raised seed & then
observed traits (F1)

filial

allowed offspring
to cross-pollinate
& observed next
generation (F2)

Mendel collected data for 7 pea traits

Looking closer at Mendels work

P

true-breeding
true-breeding
X
purple-flower peas
white-flower peas

F1

100%
purple-flower peas

generation
(hybrids)

100%

self-pollinate

F2

generation

25%
75%
purple-flower peas white-flower peas

3:1

What did Mendels findings

mean?

Traits come in alternative versions

purple vs. white flower color

alleles

different alleles vary in the sequence of nucleotides at

the specific locus of a gene

purple-flower allele &

white-flower allele are
2 DNA variations at
flower-color locus
different versions of
gene on homologous
chromosomes

Traits are inherited as discrete

units

For each characteristic, an organism inherits 2

alleles, 1 from each parent

diploid organism

inherits 2 sets of chromosomes,

1 from each parent
homologous chromosomes

What did Mendels findings

mean?

Some traits mask others

purple & white flower colors are separate traits

that do not blend

dominant allele

purple x white light purple

purple masked white

fully expressed

recessive allele

no noticeable effect
the gene makes a
non-functional protein

Genotype vs. phenotype

difference between how an organism looks

& its genetics

phenotype

description of an organisms trait

genotype

description of an organisms genetic makeup

Explain Mendels results using
dominant & recessive
phenotype & gentotype

F1

Making crosses

using representative letters

flower color alleles P or p

true-breeding purple-flower peas PP
true-breeding white-flower peas pp

PP x pp
Pp

Looking closer at Mendels work

P

true-breeding
true-breeding
X
purple-flower peas
white-flower peas

PP

pp

100%
purple-flower peas

F1

generation
(hybrids)

phenotype

100%

Pp Pp Pp Pp
self-pollinate

F2

generation

25%
75%
purple-flower peas white-flower peas

3:1

Punnett squares
%
genotype

%
phenotype

Pp x Pp
male / pollens

PP

25%
75%

Pp

female / eggs

50%

PP
Pp

Pp
pp

Pp

pp

25% 25%
1:2:1

3:1

Genotypes

Homozygous = same alleles = PP, pp

Heterozygous = different alleles = Pp

homozygous
dominant

homozygous
recessive

Phenotype vs. genotype

2 organisms can have the same phenotype but

have different genotypes
purple PP homozygous dominant
purple Pp

heterozygous

Dominant phenotypes

It is not possible to determine the genotype of

an organism with a dominant phenotype by
looking at it.
PP?
Pp?

So how
do you figure out
the genotype?

Test cross

Cross-breed the dominant phenotype

unknown genotype with a homozygous
recessive (pp) to determine the identity of the
unknown allele
x
is it
PP or Pp?

pp

Test cross
x

PP

pp

Pp

Pp

Pp

p
P

100%
P

Pp

Pp

pp

Pp
Pp
50%:50%
1:1
pp
pp

Mendels laws of heredity (#1) P

Law of segregation

PP

when gametes are produced during

meiosis, homologous chromosomes
separate from each other
each allele for a trait is packaged into a pp
separate gamete

p
p
P

Pp
p

Law of Segregation

What meiotic event

creates the
law of segregation?

And Mendel
didnt even know
DNA or genes
existed!

Meiosis 1

Monohybrid cross

Some of Mendels experiments followed the

inheritance of single characters

flower color
seed color
monohybrid crosses

Dihybrid cross

Other of Mendels
experiments followed the
inheritance of 2 different
characters

seed color and

seed shape
dihybrid crosses
This helped Mendel
understand other
genetic rules

Dihybrid cross
P

true-breeding
yellow, round peas
Y = yellow
R = round

generation
(hybrids)

F2

generation

YYRR

yyrr

y = green
r = wrinkled

yellow, round peas

F1

self-pollinate

true-breeding
green, wrinkled peas

100%

YyRr
9/16
yellow
round
peas

3/16
green
round
peas

3/16
1/16
yellow
green
wrinkled wrinkled
peas
peas

9:3:3:1

Whats going on here?

How are the alleles on different chromosomes

handed out?

together or separately?

YyRr

YR

yr

YyRr

YR

Yr

yR

yr

Dihybrid cross
YyRr x YyRr
YR

Yr

yR

yr

YR YYRR YYRr YyRR YyRr

Yr

YyRr

Yyrr

yR YyRR YyRr yyRR

yyRr

yr

YYRr

YyRr

YYrr

Yyrr

yyRr

yyrr

9/16
yellow
round
3/16
green
round
3/16
yellow
wrinkled
1/16
green
wrinkled

Mendels laws of heredity (#2)

Can you
think
of an
exception
to this?

Law of independent assortment

each pair of alleles segregates into gametes

independently

4 classes of gametes are produced

in equal amounts
YR, Yr, yR, yr
only true for genes on separate chromosomes

YyRr
Yr

Yr

yR

yR

YR

YR

yr

yr

Law of Independent Assortment

What meiotic event

creates the
law of independent assortment?
Remember
Mendel didnt
even know DNA
or genes
existed!

Meiosis 1

The chromosomal
basis of Mendels
laws

Trace the genetic

events through
meiosis, gamete
formation &
fertilization to
offspring

Review: Mendels laws of

heredity

Law of segregation

monohybrid cross

each allele segregates into separate gametes

single trait

established by Meiosis 1

Law of independent assortment

dihybrid (or more) cross

2 or more traits

each pair of alleles for genes on separate chromosomes

segregates into gametes independently

established by Meiosis 1

Mendel chose peas wisely

Pea plants are good for genetic research

available in many varieties with distinct heritable

features with different variations

flower color, seed color, seed shape, etc.

Mendel had strict control over which plants mated

with which

each pea plant has male & female structures

pea plants can self-fertilize
Mendel could also cross-pollinate plants: moving pollen
from one plant to another

Mendel chose peas luckily

Pea plants are good for genetic research

relatively simple genetically

most characters are controlled by

a single gene
each gene has only 2 alleles,
one of which is completely
dominant over the other

Summary of Mendels
experiments

Genes in an organism come in pairs

Some forms (alleles) of a gene are dominant
over other alleles which are recessive
One (at random) of each pair of genes goes into a
gamete (segregation)
Gametes meet randomly and fertilise
The numbers and types of offspring in a cross are
determined by the above laws
Separate genes behave independently of each other
(later, exceptions to this rule were found)

Post-Mendelian studies have revealed that

relationships between genotype and phenotype can be
complex

degrees of dominance
multiple alleles
epistasis
pleiotropy
polygenic inheritance
environmental effects

Linkage Analysis is the basis of genetic mapping

Genetic mapping---based on principles of inheritance

Mendels experiment
Conclusion----two laws
Punnet et al----1900----Partial linkage
Morgans experiment
Patial and complete linkage
Recombination and Crossing over

Bateson and Punnet

Dihybrid cross

P1----Purple flower, Long pollen grain (both are dominant)

P2----Red flower, Round pollen grain
Observed

Expected

Purple, long (P_L_)

284

215

Purple, round (P_ll)

21

71

Red, long (ppL_)

21

71

Red, round (ppll)

55

24

Total

381

381

Thomas Hunt Morgan experiment

Drosophila----Fruit fly
Traits-----P1---Red eye, Normal Wings and
P2 Mutant with Purple eye, vestigeal wings
Crossed two parents-----F1------Test cross
F1
Gamet
e

Testcross
Distribution

Gamete
Type

pr+ vg+

1339

Parental

pr+ vg

151

Recombinant

pr vg+

154

Recombinant

pr vg

1195

Parental

Ratio obtained is not expected

Linkage and Crossing Over

The term linkage has two related meanings
1. Two or more genes can be located on the same chromosome
2. Genes that are close together tend to be transmitted as a unit
Chromosomes are called linkage groups
They contain a group of genes that are linked together
The number of linkage groups is the number of types of chromosomes of the species
For example, in humans
22 autosomal linkage groups
An X chromosome linkage group
A Y chromosome linkage group
Genes that are far apart on the same chromosome may independently
assort from each other due to crossing-over during meiosis.
Occurs during prophase I of meiosis
Homologous chromosomes exchange DNA segments

Partial Linkage and Complete Linkage

Genes are physically arranged in a linear order along a chromosome.
The order and relative distances between them can be mapped by using the
frequency of crossing-over along a chromosome.
Linked loci are syntenic: don't show independent assortment
- not 9:3:3:1 ratio in F2 cross - not 1:1:1:1 ratios in test cross
Closely linked:
---------------------A-B----- e.g. 2%
---------------------a-b-----

Partially linked:
----------------A------B----- e.g. 30%
----------------a------b-----

Recombination fractions

A recombination event gives parental type

(P) and recombinant type (R) offspring
Recombination fraction RF = R/R+P
RF is between 0 and 0.5 (0 and 50%)
The closer together the genes are, the smaller
is RF
RF = 0.5 for unlinked genes (very far apart or
on different chromosomes)

Linkage analysis with different type of organism

Linkage analysis with species such as fruit flies and mice,
with which we can carry out planned breeding experiments;

Linkage analysis with humans, with whom we cannot carry

out planned experiments but instead make use of family pedigrees;

Linkage analysis with bacteria, which do not undergo meiosis.