Principles of Mendelian

Inheritance



Gregor Mendel
Experiments in Plant
Hybrids (1866)

particulate
inheritance
1822-1884
Seven Characteristics
Studied by Mendel
Form of ripe seed
Smooth or wrinkled
Color of seed albumen
Yellow or green
Color of seed coat
Gray or white
Form of ripe pods
Inflated or constricted
Color of unripe pods
Green or yellow
Positions of flowers on
stems
Axial or terminal
Length of stem
Tall or short
Carefully controlled experiments
(minimal chance of accidental
pollination) with large sample
sizes (28,000 plants over 8 years);
either/or expression traits
1. Principle of Segregation
Different expressions of a trait are controlled by
discrete particles that occur in pairs

Offspring inherit one particle from each parent
no blending

During fertilization the particles reunite to
determine the expression of the trait in the
offspring.

Allele, Gene, and Locus
GENE segment of DNA that directs the
production of a specific protein
ALLELE - Alternate forms of a gene that
can direct the cell to produce slightly
different forms of the same protein and
ultimately, different expressions of traits
LOCUS location of a gene on a
chromosome
Heterozygous and Homozygous
Homozygous
Two copies of the
same allele present at
a locus

For example, TT
Heterozygous
Two different alleles at
a locus

For example, Tt
Genotype and Phenotype
Genotype
The specific genetic
makeup of a trait

Represented by letters

For example, Tt

Phenotype
The physical
expression of the
genes, or what we see

For example, tall or
short plant
2. Dominance and
Recessiveness
Some traits are masked and therefore not
expressed.
Dominant: a trait governed by an allele that is
expressed in the presence of another, different
allele.
Recessive: a trait that is not expressed in the
presence of another allele.
There must be two alleles of the same recessive trait
to express that trait.
F
1
Generation
F
2
Generation
Yellow
parents
Green
parents
All
yellow
F
0

Generation
Mendels Pea Plant
Experiments
showed that in the
F
2
Generations there was
a 3:1 phenotypic ratio.
Yellow seeds are dominant
F
1
Generation
F
2
Generation
Yellow
parents
Green
parents
All
yellow
F
0

Generation
yy YY x
Yy
Yy Yy YY yy
Hybrid cross
Self-fertilize
Yellow seeds are dominant
y
y
Y
Yy Yy
Y
Y
Y
Male gametes
F
e
m
a
l
e

g
a
m
e
t
e
s

F
0

Generation

100% of F
1
generation
plants are yellow

Yy = yellow
y
y
Punnett Square/Mating Matrix
y
Y
Yy
Yy yy
YY
y
Y
Male gametes
F
e
m
a
l
e

g
a
m
e
t
e
s

F
1
Generation
Self-
fertilization/hybrid
cross
75% of F
2
generation plants
are yellow
25% of F
2
generation plants
are green

3. Law of Independent
Assortment
Traits governed by different systems of
inheritance, e.g., smooth pea pods and seed
color, show no pattern of interdependence.
In other words, alleles for different traits sort
independently in the F
1
and subsequent
generations.

Linkage
An exception to Independent Assortment
Genes whose loci are close together, on
the same chromosome, are often linked
(inherited together)
F
1
Generation
F
2
Generation
Wrinkled,
green
parents
Smooth,
yellow
parents
All
smooth,
yellow
F
0

Generation
Yellow is dominant YY
SSYY ssyy x
SsYy
Smooth,
green
Wrinkled,
yellow
Wrinkled,
green
Smooth,
yellow
Hybrid cross
Self-fertilize
Smooth is dominant SS
9 3 3 1
sy SY
Male gametes
F
e
m
a
l
e

g
a
m
e
t
e
s

F
1
Generation
Self-fertilization
Sy sY
sy
SY
Sy
sY
SSYY
ssyy
X
SsYy
SY Sy sY sy
SSYY
SSYy
SsYy SSyy
SsYy
Ssyy
ssyy
sy SY
Male gametes
F
e
m
a
l
e

g
a
m
e
t
e
s

F
1
Generation
Self-fertilization
Sy sY
sy
SY
Sy
sY
SSYY SSYy
SsYY
SsYy
SSYy
SsYY
SsYy
ssYY
ssYy
SsYy
Ssyy
ssYy ssyy
SSyy
SsYy
Ssyy
Yellow is dominant
Smooth is dominant
Smooth, yellow 9
Smooth, green 3
Wrinkled, yellow 3
Wrinkled, green 1
Phenotypic ratio 9:3:3:1
Genetics Problem
AA Aa
Aa aa
A
a
a
A
The probability of the woman having normal height
is 25%, because the phenotypic ratio is:
3 abnormal : 1 normal, or 3/4
Mendelian Inheritance in Humans
Monogenic vs.
Polygenic
Online Mendelian
Inheritance in Man
http://www.ncbi.nlm.nih.g
ov/Omim/


ABO blood system
Governed by ABO locus
on chromosome 9
Alleles determine which
antigens are present on
blood cells
Genotype Phenotype
AO, AA A
BO, BB B
AB AB
OO O
Codominant
Common misconceptions
Eye color

Recessive alleles are
completely hidden

Dominant alleles are most
common
Tongue folding
Darwins tubercle
Pedigree analysis
Modes of Mendelian Inheritance
1. Autosomal dominant
2. Autosomal recessive
3. X-linked recessive
4. X-linked dominant
5. Y-linked
6. Mitochondrial
}
Sex-linked
Autosomal dominant
Governed by (carried on) autosomes no
sex bias
If you inherit just one copy of the allele, the
trait will be expressed
Aa = dominant achondroplasia allele (A) is
expressed over the recessive normal (a)
allele
Short stature, torso & head normal in
size, but
Short limbs, lordosis

Carried on Chromosome pair 4



QUESTION: Are these brothers from
one zygote? (identical or fraternal
twins?)
The dwarf, Seneb,
and his family,
c. 2600 BC.


What is his genotype?

What genotype are
his children?
WHY?
Autosomal recessive
MUST be homozygous
to be affected
Heterozygous will not be
affected
If both parents have the
condition, all offspring
will be affected
Albinism
QUESTION: If both
parents are carriers can
they have albino
children?

Sex-linked traits
Controlled by loci on sex chromosomes
X or Y
Hemophilia
Males can be HEMIZYGOUS for a trait, such as hemophilia
- they can have only one copy of the allele AND express the
trait because the X and Y chromosomes are not truly
homologous
(These are
chromosomes that have
replicated during cell
division.)
Mutation
Alice
Alexandria and Tzar Nicholas
Orange = 75% are male

Tortoiseshell and calico =
always female; if male are
sterile
Non-Mendelian inheritance
Pleiotropy
one gene influences more than one trait
Polygenic inheritance (NON-monogenic)
multiple genes for one trait
includes most traits of the skeleton
Genotype = phenotype
strong environmental effects
Also: Mitochondrial inheritance
Pleiotropy
A single gene
influences more than
one phenotypic
expression
Phenylketonuria
Environmental influence
Many polygenic traits are influenced by the environment
Most Mendelian traits will not be influenced by the
environment
Can human culture affect
gene expression?
Mitochondrial inheritance
Mitochondria in cytoplasm of cells
mtDNA directs the conversion of energy
within the cell
Mother to offspring transmission only
Mitochondrial Eve
Modern Synthesis
A synthesis of Mendels and
Darwin/Wallaces views was not
achieved until the mid-1930s
Modern Synthesis evolution defined as
a two stage process
1. The production and redistribution of variation
2. Natural selection acting on this variation and
affecting reproductive success