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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
Mendel and Beyond
Last Class…
Mendel derived two basic principles:
3. Principle of Segregation: An individual has two alleles for
each gene. One came from each parent.
4. Principle of Independent Assortment: The alleles for two
different genes are passed separately.

Today…
7. Review of Mendelian Genetics
8. Exceptions to Mendel’s Basic Rules
Review: Mendel

Mendel performed crosses

to produce hybrids, the
offspring of two different Cross 2
varieties. varieties
If the original parent plants
only differed in one trait,
then Mendel called it a Cross 2
monohybrid cross. hybrids
Review: Mendel

From these crosses,

Mendel derived the
Principle of Segregation, Cross 2
which states that for each varieties
inherited characteristic, an
organism has two alleles of
a gene, one from each
parent. Alleles are Cross 2
alternative forms of a gene. hybrids
Review: Mendel
Just as alleles are passed
from generation to
generation in pea plants,
they are passed from Cross 2
generation to generation in varieties
humans.

Cross 2
hybrids
Review: Mendel
Other conclusions from Mendel’s Work…
• A sperm or egg carries only one allele for each gene,
because allele pairs separate from each other during
meiosis.
• If an organism has two different alleles (Rr), then it is
heterozygous. If they are the same (rr or RR), it is
homozygous.
• 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.
Review: Mendel

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
 GENETIC MAKEUP (ALLELES)

Review: Mendel PP pp

Some terms necessary to Gametes All P All p

describe Mendel’s results:

– gamete All Pp

– allele
– gene 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
pp
– genotype Phenotypic ratio
3 purple : 1 white
– phenotype
Figure 9.3B
Review: Mendel

Mendel also followed two traits at once.

• 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.
• Dihybrid crosses are crosses in which the
parents differ in two genes.
SEED
COLOR Yellow Green

SEED
SHAPE Round Wrinkled
Review: Mendel
RRYY rryy Dihybrid Cross

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
Mendel’s principles are simple…
• Mendel’s principles state that there is a clear, simple and
consistent relationship between genotype and phenotype.
• For example, in the case of flower color, one allele is
dominant (P), and one allele is recessive (p). The dominant
allele is always expressed over the recessive allele.
• As another example, two traits always assort
independently. So, if a plant has wrinkled seeds it’s not
more or less likely to have yellow seeds.

SEED
COLOR Yellow Green

SEED
SHAPE Round Wrinkled
… but life isn’t always simple.
There are exceptions to Mendel’s Rules.
2. Sometimes, phenotype is somewhere in the middle of the
two parents.
3. Sometimes, both alleles are expressed.
4. Sometimes, there are more than two alleles of a gene in a
population.
5. One gene may control many different phenotypic
characteristics.
6. One phenotypic characteristic may be controlled by many
genes.
7. Genes on the same chromosome tend to be inherited
together, so alleles don’t always assort independently.
8. Genes on sex chromosomes act differently.
1. Incomplete Dominance
P GENERATION
• When an offspring’s
Red White
phenotype is RR rr

in between the phenotypes Gametes R r

of its parents, neither allele
is dominant over the other.
F1 GENERATION Pink
• In this case, the Rr

heterozygotes (Rr) have

some red color, but not as 1
/2 R 1
/2 r

much as the RR
individuals. /2 R /2 R
1 1
Eggs Sperm
Red
1
/2 r RR 1
/2 r

F2 GENERATION Pink Pink

Rr rR
White
rr

Figure 9.12A
1. Incomplete Dominance

Figure 9.12Ax
1. Incomplete Dominance
human hypercholesterolemia: a condition where diseased
cells lack LDL receptors, leading to cholesterol build-up.
GENOTYPES:
HH hh
Homozygous Hh Homozygous
for ability to make Heterozygous for inability to make
LDL receptors LDL receptors

PHENOTYPES:

LDL

LDL
receptor

Cell
Normal Mild disease Severe disease
Figure 9.12B
2. Codominance
Sickle Cell and Codominance
• When both alleles in a
heterozygote code for
proteins, both
proteins may be
expressed.
• For example, the two
sickle cell alleles are
codominant.

RR individuals Rr individuals rr individuals

have only normal have only both have only sickled
red blood cells. red blood cell red blood cells.
types.
Cool Fact of the Day…
Sickle Cell and Codominance

The evolutionary
importance of
sickle cell gene
codominance

RR individuals Rr individuals rr individuals

have only normal have only both have only sickled
red blood cells. red blood cell red blood cells.
types.
Cool Fact of the Day…

• Heterozygotes (carriers of the

sickle cell allele) have only
some sickled cells.
• These cells seems to only sickle
under low oxygen conditions
when the cells are stressed.
• The sickled cells are then Rr individuals
targeted for destruction. have only both
red blood cell
types.
Cool Fact of the Day…

• Plasmodium, the
parasites that cause
malaria, are
transmitted to
humans by
mosquitoes. They
then pass through a
complex life cycle in
the human host.
• During part of this life
cycle, they live in red plasmodium life cycle
blood cells.

http://images.encarta.msn.com/xrefmedia/aencmed/targets/illus/ilt/T073615A.gif
Cool Fact of the Day…

It is thought that the red blood cells of carriers may sickle when they carry
the parasite. The body then destroys them and the parasite population
decreases inside the body.
Cool Fact of the Day…

Distribution of Distribution of
Sickle Cell Allele Malaria Parasite

http://evolution.berkeley.edu/evolibrary/article/0_0_0/history_19
3. More than two alleles for one gene
• In a population, multiple alleles often exist for a
characteristic. For example, there are three alleles for
blood type in humans: A, B and O
• The ABO blood groups refer to two carbohydrates,
designated A and B, that are found on the surface of red
blood cells
• A person’s blood cells may be coated with either A or B,
or both (AB) or neither (O). A and B are codominant.
3. More than two alleles for one gene
• If a donor’s blood cells have foreign carbohydrates, the
recipients body will produce antibodies to the foreign
carbohydrate and cause the donor blood cells to clump
together. This can be fatal for the recipient of a
transfusion.
4. One gene may affect many
characteristics. Individual homozygous
for sickle-cell allele

Sickle-cell (abnormal) hemoglobin

Abnormal hemoglobin crystallizes,

causing red blood cells to become sickle-shaped
Pleiotropy:
when one gene
Sickle cells
affects many
phenotypic
characteristics
Clumping of cells
Breakdown of red Accumulation of
and clogging of
blood cells sickled cells in spleen
small blood vessels

Physical Heart Pain and Brain Damage to Spleen

Anemia
weakness failure fever damage other organs damage

Impaired Pneumonia Kidney

mental Paralysis and other Rheumatism
failure
function infections

Figure 9.14
5. A single characteristic may be
influenced by many genes.
Example: Skin Color

Fraction of population
This situation creates a
continuum of phenotypes.

Skin pigmentation

Figure 9.16
6. Alleles do not always assort
independently.
• The principle of independent assortment
states that one trait is passed on
independently of others.
• However, if two alleles are on the same
chromosome, they are likely to be passed
on together.

SEED
COLOR Yellow Green

SEED
SHAPE Round Wrinkled
6. Alleles do not always assort
independently.
• The distance of two alleles on a chromosome will also
affect the likelihood that they stay together.
• If they are close together, they are likely to get passed
on together. If they are far apart, the may get exchanged
during meiosis.

A B a b

A B

a b A b a B
Tetrad Crossing over

Gametes
6. Genes on sex chromosomes exhibit
a unique pattern of inheritance.
Some Basics of Human Sex…
• A human male has one X chromosome and one Y
chromosome.
• A human female has two X chromosomes.
• Whether a sperm cell has an X or Y chromosome
determines the sex of the offspring.
6. Genes on sex chromosomes exhibit
a unique pattern of inheritance.
All genes on the sex chromosomes are said to be
sex-linked.
– In humans, relatively few genes are carried on the Y
chromosome.
– The X chromosome, however carries many genes
unrelated to sex.

Eye color is fruit flies is controlled by

a gene on the X chromosome.
6. Genes on sex chromosomes exhibit
a unique pattern of inheritance.
Female Male Female Male Female Male

XRXR XrY XRXr XRY XRXr XrY

XR Xr XR XR XR Xr
XRXr Y Xr XRXR Y Xr XRXr Y
XRY XrXR XRY XrXr XRY
XrY XrY

R = red-eye allele
r = white-eye allele Figure 9.22B-D

Eye color is fruit flies is controlled by

a gene on the X chromosome.
6. Genes on sex chromosomes exhibit
a unique pattern of inheritance.

Red-Green colorblindness is a
sex-linked disease.

• Most sex-linked diseases are

caused by recessive alleles on the
X chromosome.
• These diseases are more likely to
affect males than females. Why?

Figure 9.23A
Summary: Mendel’s principles are
simple…
• Mendel’s principles state that there is a clear, simple and
consistent relationship between genotype and phenotype.
• For example, in the case of flower color, one allele is
dominant (P), and one allele is recessive (p). The dominant
allele is always expressed over the recessive allele.
• As another example, two traits always assort
independently. So, if a plant has wrinkled seeds it’s not
more or less likely to have yellow seeds.
… but life isn’t always simple.
There are exceptions to Mendel’s Rules:
2. Sometimes, phenotype is somewhere in the middle of the
two parents.
3. Sometimes, both alleles are expressed.
4. Sometimes, there are more than two alleles of a gene in a
population.
5. One gene may control many different phenotypic
characteristics.
6. One phenotypic characteristic may be controlled by many
genes.
7. Genes on the same chromosome tend to be inherited
together, so alleles don’t always assort independently.
8. Genes on sex chromosomes act differently.
And it all comes back to evolution…
The Intersection
of Darwin and Mendel
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 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.

We know that parents pass on DNA, the genetic

material of life. This DNA is passed on according
to Mendel’s laws and basic genetic principles.
 Evolution explains the unity
and diversity of life.

• Charles Darwin published On

the Origins of Species in 1859.
• Mendel began his experiments
in 1856 and presented his
results in 1865.
• The experiment showing that
DNA is genetic material of life
was not conducted until 1952.