LAW OF INHERITANCE

Mendelian Genetics

• Gregor Johann Mendel (1822-1884)

– Augustinian monk, Czech Republic

– Foundation of modern genetics

– Studied segregation of traits in the garden pea (Pisum

sativum) beginning in 1854

– Published his theory of inheritance in 1865. “Experiments in

Plant Hybridization”

– Mendel was “rediscovered” in 1902

– Ideas of inheritance in Mendel’s time were vague. One

general idea was that traits from parents came together and
blended in offspring. Thus, inherited information was
predicted to change in the offspring, an idea that Mendel
showed was wrong. “Characters,” or what we now call alleles,
were inherited unchanged. This observation and the pattern
of inheritance of these characters gave us the first definition
of a gene
Mendel’s Studied Discrete Traits
 Antagonistic traits

Dominant

Recessive
 Mendel’s Observations
• When Mendel crossed contrasting, true-breeding white and purple flowered pea
plants all of the offspring were purple
• When Mendel crossed the F1 plants, many of the plants had purple flowers, but some
had white flowers
• A ratio of about three to one, purple to white flowers, in the F2 generation

EXPERIMENT True-breeding purple-flowered pea plants and

P Generation
white-flowered pea plants were crossed (symbolized by ). The 
resulting F1 hybrids were allowed to self-pollinate or were cross-
(true-breeding
pollinated with other F1 hybrids. Flower color was then observed
parents) Purple White
in the F2 generation.
flowers flowers

F1 Generation
(hybrids)

All plants had

purple flowers
RESULTS Both purple-flowered plants and white-
flowered plants appeared in the F 2 generation. In Mendel’s
experiment, 705 plants had purple flowers, and 224 had white
flowers, a ratio of about 3 purple : 1 white. F2 Generation
 Heredity Concepts
1. Alternative versions of genes account for variations in inherited characters,
which are now called alleles

Allele for purple flowers

Homologous
Locus for flower-color gene pair of
chromosomes

Allele for white flowers

2. For each character an organism inherits two alleles, one from each parent, A
genetic locus is actually represented twice
3. If the two alleles at a locus differ, the dominant allele determines the
organism’s appearance
4. The law of segregation - the two alleles for a heritable character separate
(segregate) during gamete formation and end up in different gametes
 Law of Segregation

• Mechanism of gene transmission

Gametogenesis: Fertilization:
alleles segregate alleles unite
Mendel’s Laws:
1. Law of Dominance:
- In a cross of parents that are pure for
contrasting traits, only one form of the
trait will appear in the next generation.

- Offspring that are hybrid for a trait will

have only the dominant trait in the phenotype.

2. Law of Segregations:
- During the formation of gametes (eggs or sperm), the two alleles
(hereditary units) responsible for a trait separate from each other.

- Alleles for a trait are then "recombined" at fertilization, producing the

genotype for the traits of the offspring.

3. Law of Independent Assortment:

- Alleles for different traits are distributed to sex cells (& offspring)
independently of one another.
 Test Cross
• To determine whether an individual with a dominant phenotype is
homozygous for the dominant allele or heterozygous, Mendel crossed the
individual in question with an individual that had the recessive phenotype:

Alternative 2 – Plant with

Alternative 1 – Plant with
dominant phenotype is
Dominant
Phenotype
PP
? Dominant
? dominant phenotype is
heterozygous
homozygous
Phenotype
Pp
Gametes
Recessive Gametes
phenotype P P
P p
p Recessive
pp phenotype p
Gametes
Gametes
p pp p
 Test Cross
• To determine whether an individual with a dominant phenotype is
homozygous for the dominant allele or heterozygous, Mendel crossed the
individual in question with an individual that had the recessive phenotype:

Alternative 2 – Plant with

Alternative 1 – Plant with
dominant phenotype is
Dominant
Phenotype
PP
? Dominant
? dominant phenotype is
heterozygous
homozygous
Phenotype
Pp
Gametes
Recessive Gametes
phenotype P P
P p
p Recessive
pp Pp Pp phenotype p Pp pp
Gametes
Gametes
p Pp Pp
pp p Pp pp

If all offspring are purple; If half of offspring are

unknown plant is white; unknown plant
homozygous. is heterozygous.
 The Testcross
APPLICATION An organism that exhibits a dominant trait,
such as purple flowers in pea plants, can be either homozygous for
the dominant allele or heterozygous. To determine the organism’s
genotype, geneticists can perform a testcross. 

Dominant phenotype, Recessive phenotype,

unknown genotype: known genotype:
TECHNIQUE In a testcross, the individual with the PP or Pp? pp
unknown genotype is crossed with a homozygous individual
expressing the recessive trait (white flowers in this example).
By observing the phenotypes of the offspring resulting from this
cross, we can deduce the genotype of the purple-flowered
parent.
If PP, If Pp,
then all offspring then 1⁄2 offspring purple
purple: and 1⁄2 offspring white:
RESULTS
p p p p

P P
Pp Pp Pp Pp

P p
Pp Pp pp pp
 The Law of Independent Assortment
• Mendel derived the law of segregation by following a single trait

– 2 alleles at a single gene locus segregate when the gametes are

formed

– The F1 offspring produced in this cross were monohybrids,

heterozygous for one character

• Mendel identified his second law of inheritance by following two

characters at the same time

– Mendel was interested in determining whether alleles at 2 different

gene loci segregate dependently or independently

– Crossing two, true-breeding parents differing in two characters

produces dihybrids in the F1 generation, heterozygous for both
characters
Alleles for different
Diagram of how the genes
exchange according to

traits are distributed

segregation or independent
assortment during meiosis
and how this translates into

to sex cells (& offspring) Mendel's laws.

independently of one
another.
 Dihybrid Cross

• With his monohybrid crosses, Mendel

determined that the 2 alleles at a single gene
locus segregate when the gametes are
formed.
• With his dihybrid crosses, Mendel was
interested in determining whether alleles at 2
different gene loci segregate dependently or
independently.
 Dihybrid Cross
• For example, in pea plants seed shape is
controlled by one gene locus where round (R)
is dominant to wrinkled (r) while seed color is
controlled by a different gene locus where
yellow (Y) is dominant to green (y).
• Mendel crossed 2 pure-breeding plants: one
with round yellow seeds and the other with
green wrinkled seeds.
 Dependent Segregation
• If dependent segregation (assortment) occurs:
– Alleles at the 2 gene loci segregate together, and are transmitted as
a unit.
– Therefore, each plant would only produce gametes with the same
combinations of alleles present in the gametes inherited from its
parents:
RR rr
Parents YY yy

Parental Gametes R r
Y y
Rr
F1 Offspring
Yy
R r
F1 Offspring’s Gametes Y y

What is the expected phenotypic ratio for the F2?

 Independent Segregation
• Alleles at the 2 gene loci segregate (separate) independently, and are NOT
transmitted as a unit. Therefore, each plant would produce gametes with
allele combinations that were not present in the gametes inherited from
its parents:

RR
Parents YY
 Law of Independent Assortment
.
• he proposed the Law of Independent
Assortment, which states that when gametes
form, each pair of hereditary factors (alleles)
segregates independently of the other pairs.
Laws Of Probability Govern Mendelian Inheritance

• Mendel’s laws of segregation and

independent assortment reflect the rules of
probability
Laws Of Probability - Multiplication Rule

• The probability of two or more independent events

occurring together is the product of the probabilities that
each event will occur by itself

• Following the self-hybridization of a heterozygous purple

pea plants (Pp), what is the probability that a given
offspring will be homozygous for the production of white
flowers (pp)?
Laws Of Probability - Addition Rule

• The probability of either of two mutually exclusive events

occurring is the sum of their individual probabilities

• Following the self-hybridization of a heterozygous purple

pea plant (Pp), what is the probability that a given
offspring will be purple?
 Mendel’s conclusions
• Genes are distinct entities that remain
unchanged during crosses
• Each plant has two alleles of a gene
• Alleles segregated into gametes in equal
proportions, each gamete got only one allele
• During gamete fusion, the number of alleles
was restored to two
 Summary of Mendel’s Principles
• Mendel’s Principle of Uniformity in F1:
– F1 offspring of a monohybrid cross of true-breeding strains
resemble only one of the parents.
– Why? Smooth seeds (allele S) are completely dominant to
wrinkled seeds (alleles).
• Mendel’s Law of Segregation:
– Recessive characters masked in the F1 progeny of two true-
breeding strains, reappear in a specific proportion of the F2
progeny.
– Two members of a gene pair segregate (separate) from each
other during the formation of gametes.
• Mendel’s Law of Independent Assortment:
– Alleles for different traits assort independently of one
another.
– Genes on different chromosomes behave independently in
gamete production.
 Exceptions To Mendel’s Original Principles

• Incomplete • Pleiotropy
dominance • Environmental effects
• Codominance on gene expression
• Linkage
• Multiple alleles
• Sex linkage
• Polygenic traits
• Epistasis
 Incomplete dominance
• Neither allele is dominant and heterozygous individuals have an
intermediate phenotype

P Generation White
Red  CWCW
CRCR

Gametes CR CW

Pink
F1 Generation CRCW

1⁄ 1⁄
2 2
Gametes CR CR

1⁄ CR 1⁄ CR Sperm
Eggs 2 2
F2 Generation
1⁄
2 CR
CR CR CR CW
1⁄
2 Cw
CR CW CW CW
Incomplete Dominance
Gametes
CR CW

CRCR

CR

CRCR CRCW
Gametes

CW
F1 generation
All CRCW CRCW CW CW
F2 generation
CWCW
1:2:1

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 Codominance

• Neither allele is dominant and both alleles are

expressed in heterozygous individuals
 Polygenic Traits
• Most traits are not controlled by a single gene locus, but by the
combined interaction of many gene loci. These are called
polygenic traits.
Epistasis E_
Dark pigment in fur
ee
No dark pigment in fur

E_bb E_B_
eebb eeB_

Yellow fur Yellow fur Brown fur Black fur

Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
 Pleiotropy
• This is when a single gene locus affects more
than one trait.
• For example, in Labrador retrievers the gene
locus that controls how dark the pigment in
the hair will be also affects the color of the
nose, lips, and eye rims.
Pleiotropy
 Environmental Effects on Gene Expression

• The phenotype of an organism depends not only on which

genes it has (genotype), but also on the environment under
which it develops.
APPLICATION
When there are more
than two possible
alleles for a gene.

Examples:
- eye color
- human blood types (ABO)
 Co-dominance : ABO Blood Type

- Has three alleles: A, B & O

- AB co-dominant, O recessive

- Genotype represented using

IA, IB & i

Phenotype Genotype

Type A IAIA or IAi

Type B IBIB or IBi

Type AB I AI B
Type O ii
 ABO Blood Type

You make antibodies against the

antigens of other blood types. .

– Q: Which blood type can

accept anyone's blood.

– Q: Which blood type is known

as the “universal donor. Why?

Phenotype Genotype

Type A IAIA or IAi

Type B IBIB or IBi

Type AB IAIB
Type O ii
DOMINANT
one which will be expressed if one of the parents has the
gene for that trait.

Dominant trait in humans: normally pigmented skin (with

melanin)

> Huntington's disease (HD) a neurodegenerative genetic

disorder that affects muscle coordination and leads
to cognitive decline and psychiatric problems

Dominant: Widow's peak hair line --Recessive: Straight hairline

Dominant: Brown eyes-- Recessive: Light eyes
Dominant: Free earlobe -- Recessive: Attached earlobe
RECESSIVE- one that will be expressed only if both parents
carry the trait.
-the form of a gene that is not expressed as a trait in an
individual unless two such genes are inherited, one from each
parent

Recessive trait in humans: albinism (no pigmentation in the skin

with melanin)
ALLELES-
an alternative form of a gene (one member of a pair)
that is located at a specific position on a
specific chromosome.

These DNA codings determine distinct traits that can be

passed on from parents to offspring.
HETEROZYGOUS - organisms have two alleles
for each trait

HOMOZYGOUS - having identical alleles for a

single trait.

PHENOTYPE - the physical and physiological

traits of an organism, which are determine by its
genetic make up
PUNNET SQUARE

 tabular summary of
every possible
combination of one
maternal allele with
one paternal allele for
each gene being
studied in the cross
 Punnetts_square.jpg
DOMINANT TRAIT RECESSIVE TRAIT
With dimples Without Dimples
Curly Hair Straight Hair
Hairline with Widow’s Peak Straight Hairline
Baldness normal hair growth
PEDIGREE ANALYSIS
PEDIGREE – a diagram of family relationships that uses
symbols to represent people and lines to represent
genetic relationships

- often used to determine the mode of inheritance

of genetic disease

SYMBOLS REPRESENTATION
SQUARES Male
CIRCLE Female
Horizontal line connecting Mating
male and female
Vertical line extending Children
downward
Roman Numerals Generation
PEDIGREE CHART
 AUTOSOMAL RECESSIVE
genetic condition that appears only in individuals who
have received two copies of an autosomal gene, one
copy from each parent.

gene is on an autosome, a nonsex chromosome. The

parents are carriers who have only one copy of the
gene and do not exhibit the trait because the gene is
recessive to its normal counterpart gene.
AUTOSOMAL RECESSIVE
AUTOSOMAL RECESSIVE
Cystic fibrosis (CF) is an example of an autosomal recessive disorder. A CF child has
the CF gene on both chromosome 7's and so is said to be homozygous for CF.

The parents each have one CF and one normal paired gene and so are said to be
heterozygous for CF.

Other examples of autosomal recessive disorders include:

• Canavan disease of the brain
• Congenital neutropenia, a blood condition
• Ellis-van Creveld syndrome, a birth defect
• Familial Mediterranean fever with attacks of fever and pain
• Fanconi anemia, a progressive blood disorder with a high risk of leukemia
• Gaucher disease (a common genetic disease of Jews
• Mucopolysaccharidosis (MPS), a series of carbohydrate storage disorders
• Phenylketonuria (PKU), a disease for which newborns are tested
• Sickle cell disease, the most common genetic disease in Blacks.
CYSTIC FIBROSIS
CYSTIC FIBROSIS
 AUTOSOMAL DOMINANT

Dominant inheritance means an abnormal gene from

one parent can cause disease, even though the
matching gene from the other parent is normal. The
abnormal gene dominates.
AUTOSOMAL DOMINANT
AUTOSOMAL DOMINANT
VON WILLERBRANDS DISEASE
 X LINKED DOMINANT
 mode of genetic inheritance by which a dominant
gene is carried on the X chromosome.

 rare way that a trait or disorder can be passed down

through families. A single abnormal gene on the X
chromosome can cause a sex-linked dominant
disease.

 Rett Syndrome - is a rare, severe, "girls only" form

of autism. It's usually discovered in the first two
years of life.
X-LINKED DOMINANT
 X LINKED RECESSIVE
• a mode of inheritance in which a mutation in
a gene on the X chromosome causes the
phenotype to be expressed
(1) in males (who are necessarily homozygous for the
gene mutation because they have only one X
chromosome)
(2) in females who are homozygous for the gene
mutation (i.e., they have a copy of the gene
mutation on each of their two X chromosomes).
• Christmas Disease
X LINKED RECESSIVE
Y LINKED DOMINANT
 the inheritance of traits controlled by genes on the
DNA of mitochondria in the ooplasm; thus the genes
are inherited entirely from the maternal side,
segregate randomly at meiosis or mitosis, and are
variably expressed.
MITOCHONDRIAL
Rules of Inheritance Disorder
AUTOSOMAL RECESSIVE Cystic Fibrosis, Sickle Cell Anemia, Tay-
Sachs Disease
AUTOSOMAL DOMINANT Von Willerbrand’s Disease, Marfan
Syndrome,
X LINKED DOMINANT Fragile X syndrome
X LINKED RECESSIVE G6PD, Hunter’s Disease, Hemophilia A and
B
Y LINKED DOMINANT Jacob’s Syndrome
MITOCHONDRIAL Kearns-Sayre syndrome (KSS), chronic
progressive external ophthalmoplegia
(CPEO)