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.
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
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.
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
F1 generation
is heterozygous:
TT tt
(tall)
(dwarf)
Tt
(all tall plants)
Monohybrid cross: F2
generation
T
t
TT
Tt
Tt
tt
(tall)
Genotypes:
1 TT= Tall
2 Tt = Tall
1 tt = dwarf
Genotypic ratio= 1:2:1
Phenotype:
3 Tall
1 dwarf
Phenotypic ratio= 3:1
Pp
pp
ALL PURPLE (Pp)
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)
t = short
(short, white)
tp
TtPp
TtPp
TtPp
TtPp
TtPp
TtPp
TP TtPp
TtPp
TtPp
TtPp
TP TtPp
TtPp
TtPp
TtPp
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
tP
TtPP
TtPp
ttPP
ttPp
tp TtPp
Ttpp
ttPp
ttpp
Dihybrid cross
9 Tall
purple
TP
Tp
tP
3 Tall
white
3 Short
purple
tp
TtPp
Ttpp
tP
TtPP
TtPp
ttPP
ttPp
tp TtPp
Ttpp
ttPp
ttpp
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
NON-MENDELIAN
INHERITANCE
Incomplete
Dominance
Incomplete Dominance
Snapdragon flowers
come in many colors.
RR
Rr
rr
R R
Rr
Rr
rr
Incomplete dominance
What happens if you cross a pink with
a white?
Codominance
Both
alleles
are
fully
expressed
in
heterozygotes, and neither
is dominant or recessive.
Epistasis and
Pleiotropy
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
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),
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
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.
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
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
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.
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