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• Many figures are under copyright by the publisher

(Pearson Education Inc. 2005).
• These lectures and figures are posted for the sole
purpose of my students and should not be replicated or
copied by any individuals not directly associated with my
class.
 Genetics
Image from: history.nih.gov/exhibits/genetics/images/main/collage.gif
The Principles of Inheritance
Genetics is the science of heredity:
• Remember, we inherit DNA from our parents.
• DNA dictates what proteins we can make, which in
turn affects many of our physical and mental
characteristics.

In the next two to three classes, we’ll cover:

• The basic principles of heredity
• Deviations from these basic patterns
• Some tools used to study genetics
An Example of Inheritance

These black Labrador puppies are purebred,

their parents and grandparents were black
labs with very similar genetic makeup.

Purebreds often
suffer from genetic
diseases. We’ll
come back to this at
the end of class and
try to determine why
that is the case.
An Example of Inheritance
The parents of these puppies were a mixture
of different breeds.

Their behavior and

appearance is
more varied as a
result of their
diverse genetic
inheritance
The Roots of Genetics

• The science of heredity dates back to

ancient attempts at selective breeding.
• Until the 20th century, however, many
biologists erroneously believed that…
– characteristics acquired during a lifetime could
be passed on.
– characteristics of both parents blended
irreversibly in their offspring.
The Roots of Genetics
Hypothesis #1: Characteristics acquired
during a lifetime could be passed on.

Wrong !
The Roots of Genetics
Hypothesis #2: Characteristics of both
parents blended irreversibly in their
offspring.

Wrong !
So, how are characteristics acquired
from parents?

Modern genetics to
answer this
question began
with Gregor Mendel
in…

Figure 9.2Ax
Mendel’s Experiments

Purple and White Sweet Pea Flowers

Figure 9.3x
Mendel’s Experiments 1 Removed
stamens
White

from purple
flower
Mendel crossed pea
plants that differed in Stamens

certain characteristics Carpel 2 Transferred

pollen from

and traced the traits

stamens of white
PARENTS Purple flower to carpel
(P)
of purple flower

from generation to 3 Pollinated carpel

matured into pod
generation. This
technique is known
as cross fertilization. 4 Planted
seeds
from pod
OFF-
SPRING
(F1)

Figure 9.2C
Mendel’s Experiments FLOWER
COLOR Purple White

Mendel studied seven FLOWER

POSITION
Axial Terminal

pea characteristics.
SEED
COLOR Yellow Green

SEED
SHAPE Round Wrinkled

POD
SHAPE Inflated Constricted

POD
COLOR Green Yellow

STEM
Figure 9.2D LENGTH Tall Dwarf
What made Mendel’s experiments
successful?
1. Mendel was meticulous in conducting the
experiments and recording the data.
2. Pea plants were a good choice because
they were able to be manipulated and
fertilization could be controlled.
3. Mendel carefully chose seven
characteristics, each of which occurred in
two distinct forms.
To understand Mendel’s results, you
need to think a little about probability.

• Half the time Mom will give a B Bb female Bb male

and Dad will give a B, so the Formation of eggs Formation of sperm

probability of a child getting BB

is ½ x ½ = ¼
/2
1
B B
• Half the time Mom will get a B 1
/2

and Dad will give a b. Half the B B

/2
1
b b
time, the opposite will happen.
/2
1 1
/4
So, the probability of a child b B B b
getting Bb is (½ x ½) + (½ x ½)
=½ /4
1
/4
1

b b

1
/4
Figure 9.7
Mendel’s Experimental Results

• With this basic understanding of probabilities, we

can begin to understand Mendel’s experimental
conclusion, the principle of segregation.

• Based on his experiments, he hypothesized that

there are alternative forms of units that determine
heredity. We now call those units ‘genes’, and we
call the alternative forms of genes ‘alleles’.
Mendel’s Experiments…

Mendel performed
crosses to produce Cross 2
hybrids, the offspring varieties
of two different
varieties.
Cross 2
hybrids
Mendel’s Experiments…
P generation
• P generation =
parental generation
• F1 = offspring in the
cross of P individuals F1
generation
• F2 = offspring in
cross of F1 Fertilization
among F1
individuals. plants
(F1 x F1)

F2
generation
/4 of plants
3 1
/4 of plants
have purple flowers have white flowers
Figure 9.3A
Mendel’s Experiments…
P generation
This is a monohybrid
cross. The plants differ
in only one
characteristic – color. F1
generation

Fertilization
among F1
plants
(F1 x F1)

F2
generation
/4 of plants
3 1
/4 of plants
have purple flowers have white flowers
Figure 9.3A
Mendel’s Experiments… P generation
PP pp

From his monohybrid All P All p

crosses, Mendel
deduced that an F1
generation All Pp

organism has two

alleles, a copy of a 1
/2 P /2 p
1

gene, for each

inherited characteristic. Eggs
P P

One allele comes from p

PP
p
F2
each parent. generation
Pp Pp

pp
 GENETIC MAKEUP (ALLELES)

Mendel’s Experiments… PP pp

Some terms necessary Gametes All P All p

to describe Mendel’s
results:
All Pp
– gamete
– allele Gametes /2 P
1 1
/2 p

– homozygous
– heterozygous Eggs
P P
Sperm
PP
– dominant allele p p

Genotypic ratio Pp Pp
– recessive allele 1 PP : 2 Pp : 1 pp

– genotype Phenotypic ratio

pp

3 purple : 1 white
–phenotype
Figure 9.3B
 GENETIC MAKEUP (ALLELES)

We now know the genetic PP pp

basis of alleles. All P Gametes All p

– A gamete (a sperm or egg)

carries only one allele of a gene. All Pp

– Each allele is on one of two

paired chromsomes. /2 P Gametes /2 p
1 1

– The pairs of alleles separate

when gametes form during Eggs
P P
Sperm

meiosis. p
PP
p

Pp Pp

pp

Figure 9.3B
We now know the genetic
basis of alleles.

After meiosis,
each cell ends up
with one of each
homologous
autosome pair
and either one X
or one Y sex
chromosome.
We now know the genetic
basis of alleles.

The Steps of Meiosis

Four gametes produced.

We now know the genetic
basis of alleles.
• First, remember that a chromosome is just a large piece
of DNA.
• DNA has genes, which code for proteins.
• A gene is located along the DNA at a locus.
• You can have different forms of genes. These different
forms are called alleles.
• Your two homologous chromosome may have different
alleles.

Homologous
chromosome
pair
We now know the genetic
basis of alleles.

GENE LOCI
DOMINANT
allele
P a B

Homologous
chromosome
pair

P a b
RECESSIVE
allele
GENOTYPE: PP aa Bb

HOMOZYGOUS HOMOZYGOUS HETEROZYGOUS

for the for the
dominant allele recessive allele Figure 9.4
We now know the genetic
basis of alleles.
• In humans, depending on what alleles your mate passes
on, your children can have several combinations of alleles.

From Mom… From Dad… Their Child…

X

X
We now know the genetic
basis of alleles.
• The same happens in pea plants.

From F1… From F1… F2 offspring

X

X
 A B C D ?

Which of the following statements is true?

A. Alleles are located at a particle locus on a

chromosome.
B. Chromosomes are located at a particle
locus on an allele.
C. Each parent donates two alleles at a
particular locus.
D. Only one parent donates alleles at a
particular locus.
So far, following one trait, we have
found that…

FLOWER
COLOR Purple White

• Alternate forms of genes are known as alleles.

• For each inherited characteristic, an organism has two
alleles of a gene, one from each parent. These alleles may
be the same from each parent or they may be different.
• A sperm or egg carries only one allele for each gene,
because allele pairs separate from each other during
meiosis.
• When the two alleles of a gene are different, one allele is
often fully expressed while the other is not expressed. The
allele that is fully expressed is the dominant allele, the allele
that is not expressed is the recessive allele.
Mendel also followed two traits at
once.
SEED
COLOR Yellow Green

SEED
SHAPE Round Wrinkled

• Dihybrid crosses are crosses in which the

parents differ in two genes.
• By looking at two characteristics at once,
Mendel found that the alleles of a pair
segregate independently of other allele pairs
during gamete formation. This is known as
the principle of independent assortment.
Principle of Independent Assortment
RRYY rryy

Gametes RY ry

RrYy

Eggs /4 RY
1 1
/4 RY

1
/4 rY /4 rY
1

R
RYY
/4 Ry
1
/4 Ry
1
RrYY RrYY

/4 ry
1
/4 ry
1
RRYy rrYY RrYy

RrYy RrYy RrYy RrYy 9

/16 Yellow
round
/16 Green
rrYy RRyy rrYy 3
round

Rryy Rryy 3
/16 Yellow
wrinkled
/16 Yellow
rryy 1
wrinkled
Principle of Independent Assortment

Independent assortment of two genes in the

Labrador retriever
Blind Blind

PHENOTYPES Black coat, Black coat, Chocolate coat, Chocolate coat,

normal vision blind (PRA) normal vision blind (PRA)
GENOTYPES B_N_ B_nn bbN_ bbnn

MATING OF HETEROZYOTES BbNn BbNn

(black, normal vision)
PHENOTYPIC RATIO 9 black coat, 3 black coat, 3 chocolate coat, 1 chocolate coat,
OF OFFSPRING normal vision blind (PRA) normal vision blind (PRA)

Figure 9.5B
Principle of Independent Assortment

After meiosis,
each cell ends up
with one of each
homologous
autosome pair
and which
homologues end
up together are
random.
Principle of Independent Assortment

After meiosis,
each cell ends up
with one of each
homologous
autosome pair
and which
homologues end
up together are
random.
 A B C D ?

Mendel’s two principles are…

A. The principle of independent assortment

and the principle of segregation.
B. The principle of independent assortment
and the principle of inheritance.
C. The principle of inheritance and the
principle of segregation.

How do they differ?

How this all relates to humans.

• The inheritance of many

human traits follows
Mendel’s principles.
• Many common human
traits have a dominant
and a recessive allele.

Figure 9.8A
How this all relates to humans.

• Many inherited disorders in PARENTS

Normal
Dd
Normal
Dd
humans are controlled by a
single gene D D
• Most such disorders are Eggs
DD
Sperm

caused by autosomal d
Normal
d
recessive alleles. Dd Dd
OFFSPRING Normal Normal
• Examples: (carrier) (carrier)

cystic fibrosis, sickle-cell dd

disease Deaf

People who have only one copy of the allele for a recessive Figure 9.9A
disorder and do not exhibit symptoms of the disorder are
called “carriers”.
How this all relates to humans.

• There are autosomal

dominant disorders.
• One example is
Achondroplasia, a form of
dwarfism in which the
head and torso of the body
develop normally, but the
arms and legs are short.
People with this disorder
are heterozygous,
because embryos that are
homozygous die before
David Rappaport - actor
birth.
How this all relates to humans.

Table 9.9
How this all relates to humans.
Because Mendel’s principles apply to humans, family pedigrees
can be used to determine patterns of inheritance and individual
genotypes.

Dd Dd D_? D_?
Joshua Abigail John Hepzibah
Lambert Linnell Eddy Daggett

D_? dd Dd
Abigail Jonathan Elizabeth
Lambert Lambert Eddy

Dd Dd dd Dd Dd Dd dd

Female Male
Deaf
Hearing
Figure 9.8B
 And it all comes back to
evolution…
The Intersection of Darwin and Mendel
Evolution and Natural Selection

Natural selection is
a mechanism that
occurs when
organisms, having (1) Population with varied inherited traits

inherited variations,
are exposed to
environmental
factors that favor the
reproductive (2) Elimination of individuals with certain traits

success of some
individuals over
others

Figure 1.6B (3) Reproduction of survivors

Evolution and Natural Selection

Evolution is a
change in the
frequency of a
characteristic within a (1) Population with varied inherited traits

population over time.

Natural Selection is
one mechanism that
causes evolutionary
change. (2) Elimination of individuals with certain traits

Figure 1.6B (3) Reproduction of survivors

Evolution and Natural Selection

Evolution explains the unity

and diversity of life.

Darwin knew that parents must be

passing on something that caused
their children to have the same
adaptation as they did, but he did
not know what that something was.

Parents pass on DNA, the

genetic material of life. This DNA
is passed on according to
Mendel’s laws.
Evolution and Natural Selection

Evolution explains the unity

and diversity of life.

• Charles Darwin died in 1882.

• Mendel conducted his
experiments in
• The experiment showing that
DNA is genetic material of life
was not conducted until 1952.