Mendelian Inheritance
PATTERNS OF INHERITANCE
Mendelian
Genetics
Transmission genetics
a set of principles that
describe how genes are
transmitted from parents to
offspring
Gregor Johann
Mendel
Austrian
monk,
born in what is
now
Czech
Republic in 1822
Studied theology
and was ordained
priest Order St.
Augustine.
In 1866 he published Experiments
in Plant Hybridization, (Versuche
ber Pflanzen-Hybriden) in which
he established his three Principles
of Inheritance
Work was largely ignored for
34 years, until 1900, when 3
independent botanists
rediscovered Mendels work.
Mendel was the first
biologist to use
Mathematics to explain
his results quantitatively.
Mendel predicted
The concept of genes (which
he called as unit factor of
inheritance)
That genes occur in pairs
That one gene of each pair is
present in the gametes
Mendels
Principles
1. Principle of
Dominance:
One
allele
masked
another, one allele was
dominant over the other in
the F1 generation.
2. Principle of
Segregation:
When gametes are formed,
the pairs of hereditary factors
(genes) become separated,
so
that
each
sex
cell
(egg/sperm) receives only
one kind of gene.
3. Principle of
Independent
Assortment
Members of one gene pair
segregate
independently
from other gene pairs
during gamete formation
Genetics terms you
need to know:
Gene is a
unit of
heredity; a
section of
DNA
sequence
encoding a
single protein
Alleles two
genes that
occupy the
same position
on
homologous
chromosomes
and that cover
the same trait
(like flavors
Locus a
fixed location
on a strand of
DNA where a
gene or one
of its alleles
is located.
Homozygous having
identical genes (one from
each parent) for a particular
characteristic.
Heterozygous having two
different genes for a
particular characteristic.
Dominant the allele of a
gene that masks or
suppresses the expression of
an alternate allele; the trait
appears in the heterozygous
condition.
Recessive an allele that is
masked by a dominant
allele; does not appear in the
heterozygous condition, only
in homozygous.
Genotype
the genetic
makeup of an
organisms
Phenotype
the physical
appearance
of an
organism
(Genotype +
Monohybrid cross
Parents differ by a single trait.
Crossing two pea plants that differ in
stem size, one tall one short
T = allele for Tall
t = allele for dwarf
TT = homozygous tall plant
t t = homozygous dwarf plant
Monohybrid cross for stem
length:
P = parentals
true breeding,
homozygous plants:
F1 generation
is heterozygous:
TT tt
(tall)
(dwarf)
Tt
(all tall plants)
Monohybrid cross: F2
generation
If you let the F1 generation self-fertilize, the
next monohybrid cross would be:
Tt Tt
(tall)
T
t
TT
Tt
Tt
tt
(tall)
Genotypes:
1 TT= Tall
2 Tt = Tall
1 tt = dwarf
Genotypic ratio= [Link]
Phenotype:
3 Tall
1 dwarf
Phenotypic ratio= 3:1
Another example: Flower
color
For example, flower
color:
P = purple
(dominant)
p = white
(recessive)
If you cross a homozygous Purple (PP) with a
homozygous white (pp):
PP
Pp
pp
ALL PURPLE (Pp)
Cross the F1 generation:
Pp
Pp
P
p
PP
Pp
Pp
pp
Genotypes:
1 PP
2 Pp
1 pp
Phenotypes:
3 Purple
1 White
Dihybrid crosses
Mating that involve parents
that differ in two genes
(two independent traits)
For example, flower color:
P = purple (dominant)
p = white (recessive)
and stem length:
T = tall
t = short
Dihybrid cross: flower color
and stem length
TT PP tt pp
(tall, purple)
(short, white)
Possible Gametes for parents
tp
TP TtPp
T P and t p
TP TtPp
tp
TtPp
TtPp
TtPp
TtPp
TtPp
TtPp
TP TtPp
TtPp
TtPp
TtPp
TP TtPp
TtPp
TtPp
TtPp
F1 Generation: All tall, purple flowers (Tt Pp)
tp
tp
Dihybrid cross F2
If F1 generation is allowed to self
pollinate, Mendel observed 4
phenotypes:
Tt Pp Tt Pp
Possible gametes:
TP Tp tP tp
(tall, purple)
TP(tall, purple)
Tp
tP
TP TTPP TTPp TtPP
tp
Tp TTPp TTpp TtPp
TtPp
Ttpp
tP
TtPP
TtPp
ttPP
ttPp
tp TtPp
Ttpp
ttPp
ttpp
Four phenotypes observed
Tall, purple (9); Tall, white (3); Short, purple (3); Short white (1)
Dihybrid cross
9 Tall
purple
TP
Tp
tP
TP TTPP TTPp TtPP
3 Tall
white
3 Short
purple
tp
Tp TTPp TTpp TtPp
TtPp
Ttpp
tP
TtPP
TtPp
ttPP
ttPp
tp TtPp
Ttpp
ttPp
ttpp
Phenotype Ratio = [Link]
Dihybrid cross: 9
genotypes
Genotype ratios (9):
Four Phenotypes:
1
2
2
4
1
2
1
2
1
TTPP
TTPp
TtPP
TtPp
TTpp
Ttpp
ttPP
ttPp
ttpp
Tall, purple (9)
Tall, white (3)
Short, purple (3)
Short, white (1)
BEYOND SIMPLE DOMINANCE
NON-MENDELIAN
INHERITANCE
Incomplete
Dominance
Effect in which one allele is
not fully dominant over
another, so the heterozygous
phenotype is between the
two homozygous phenotypes.
Incomplete Dominance
Snapdragon flowers
come in many colors.
If you cross a red
snapdragon (RR) with a
white snapdragon (rr)
You get PINK flowers
(Rr)!
RR
Rr
rr
When F1 generation (all pink flowers) is self
pollinated, the F2 generation is [Link]
red, pink, white
Incomplete Dominance
R R
Rr
Rr
rr
Incomplete dominance
What happens if you cross a pink with
a white?
A pink with a red?
Codominance
Both
alleles
are
fully
expressed
in
heterozygotes, and neither
is dominant or recessive.
Human ABO Blood
Group
The three alleles of the
human blood (A,B and O).
Where A and B are
codominant with each other
when paired. The O allele is
recessive when paired with
either A or B allele.
So, if your genotype is AA or AO
your blood type is A. If your
genotype is BB or BO, your blood
type is B. If you are OO, your blood
type is O. And if A and B allele is
paired, they exist as codominant
therefore your blood type is AB.
The blood type of the baby is
heterozygous A (AO); and
the blood type of the father
and mother is homozygous
B and heterozygous A
respectively. Is the baby the
biological son of the couple?
Epistasis and
Pleiotropy
Some traits are affected by
multiple gene products, an
effect, called polygenic
inheritance or epistasis.
A gene that controls multiple
traits is said to be pleiotropic.
For example, several gene
products affect the coat
color of a Labrador retriever,
which can be black, yellow or
brown.
One gene is involved in the
synthesis of melanin. A
dominant allele synthesizes
black melanin, while a
recessive allele synthesizes
brown melanin
A dominant allele from a different
gene causes melanin deposition.
A dominant allele of this gene
causes deposition of melanin in
the fur, while the recessive allele
reduces melanin deposition.
AUTOSOMAL
INHERITANCE
PATTERNS
Autosomal Dominant
Pattern
An allele is inherited in an
autosomal dominant pattern
if the trait it specifies
appears in heterozygous
people. The trait tends to
appear in every generation.
EXAMPLE 1
Marfan syndrome is an autosomal
dominant disorder. If a homozygous
affected
female
marries
a
heterozygous affected male, what is
the probability that their child
develops the disease?
Marfan Syndrome
The disease is an autosomal
dominant disorder, meaning
that people who inherit only
one copy of the Marfan FBN1
gene from either parent will
develop Marfan syndrome and
be able to transmit it to their
children
The syndrome is caused by
the misfolding of the protein
fibrillin-1. Fibrillin-1 is coded
by the gene FBN1. The most
serious complications are
defects of the heart valves
and aorta, which often lead
to early death. People with
Marfan tend to be unusually
tall, with long limbs and
PROBLEM 1
A normal female marries a man with
achondroplasia, their first born child
was normal. What is the possible
genotype of the father?
Achondroplasia
The word achondroplasia
literally means "without
cartilage formation.
However, in achondroplasia
the problem is not in
forming cartilage but in
converting it to bone (a
process called ossification),
Mutations in the FGFR3 gene
cause achondroplasia. The
FGFR3 gene provides
instructions for making a
protein that is involved in
the development and
maintenance of bone and
brain tissue.
Individuals who inherit two
altered copies of this gene
typically have a severe form
of achondroplasia that
causes extreme shortening
of the bones and an
underdeveloped rib cage.
These individuals are usually
stillborn or die shortly after
PROBLEM 2
A heterozygous male for progeria
marries
a
female
which
is
heterozygous for the disease as well.
Given that they produce a son who is
homozygous for the disease and
marries a normal female. What is the
probability that there child might
develop the disease as well?
HutchinsonGilford Progeria
Hutchinson-Gilford progeria
syndrome is a genetic
condition characterized by
the dramatic, rapid
appearance of aging
beginning in childhood.
Affected children typically
look normal at birth and in
early infancy, but then grow
more slowly than other
Mutations in the LMNA gene
cause Hutchinson-Gilford
progeria syndrome.
The LMNA gene provides
instructions for making a
protein called lamin A. This
protein plays an important
role in determining the
shape of the nucleus within
cells. It is an essential
scaffolding (supporting)
component of the nuclear
envelope, which is the
Mutations that cause
Hutchinson-Gilford progeria
syndrome result in the
production of an abnormal
version of the lamin A
protein. The altered protein
makes the nuclear envelope
unstable and progressively
damages the nucleus,
Autosomal
Recessive Pattern
An allele is inherited in an
autosomal recessive pattern
if the trait specifies appears
only in homozygous people.
The trait tends to skip
generations.
EXAMPLE 2
A male who is a carrier for Tay-Sachs
disease marries a normal female,
what is the probability that there
child is normal? Carrier? Affected?
Tay-Sachs Disease
Tay-Sachs disease is a rare
inherited disorder that
progressively destroys nerve
cells (neurons) in the brain
and spinal cord.
As the disease progresses,
children with Tay-Sachs
disease experience seizures,
vision and hearing loss,
intellectual disability, and
paralysis. An eye
abnormality called a cherryred spot, which can be
identified with an eye
X-LINKED
INHERITANCE
PATTERNS
EXAMPLE 3
What is the probability that a man
who is normal and marries a woman
that
is
carrier
for
red-green
colorblindness will have a baby that
is affected with the disease?
Red-Green Color
Blindness
Red-green color blindness
is a recessive, sex linked
trait (encoded on the X
chromosome). This results
in much more men to suffer
from it than women. It is
usually inherited from a
grandfather to his
grandson, with the mother
in between acting as the
PROBLEM
What is the probability that a couple,
affected male and normal female,
will have a daughter that is a carrier
of an X-linked hemophilia disorder?
Hemophilia A
Hemophilia A, also called
factor VIII (FVIII) deficiency
or classic hemophilia, is a
genetic disorder caused by
missing or defective factor
VIII, a clotting protein.
Factor VIII (FVIII) is an essential
blood-clotting protein, also
known as anti-hemophilic factor
(AHF). In humans, factor VIII is
encoded by the F8 gene. Defects
in this gene results in hemophilia
A, a recessive X-linked
coagulation disorder.
Duchenne
Muscular
Dystrophy
Duchenne muscular
dystrophy (DMD) is a
recessive X-linked form of
muscular dystrophy,
affecting around 1 in 3,600
boys, which results in muscle
degeneration and eventual
death.
The disorder is caused by a
mutation in the dystrophin gene,
the largest gene located on the
human X chromosome, which
codes for the protein dystrophin,
an important structural
component within muscle tissue
QUIZ
About 70% of Americans perceive bitter taste
from the chemical phenylthiocarbamide (PTC).
The ability to taste this chemical result from a
dominant allele (T) and not being able to taste
PTC is the result of having two recessive alleles
(t). Albinism is also a single locus trait with a
normal pigment being dominant (A) and the
lack of pigment being recessive (a). A normally
pigmented woman who cannot taste PTC has a
father who is an albino taster. She marries a
homozygous, normally pigmented man who is a
taster but who has a mother that does not taste
PTC. What are possible the genotypes and
phenotypes of the possible children? What
