Simple patterns of

inheritance

Group 7
 Overview
1. Mendel’s law of inheritance and Cytological basis
2. Simple patterns of inheritance
2.1. Autosomal dominant inheritance
2.2. Autosomal recessive inheritance
2.3. X-linked recessive inheritance
2.4. X-linked dominant inheritance
2.5. Mitochondrial inheritance
Mendel's law
of
inheritance
 Mendel’s experiments

- Experiment on pea plants had strictly

self- fertilization hermaphrodites

- Planted about 37,000 plants, crossed

7 trait pairs of 22 peas varieties in 8
year.

- Analyzed over 10,000 hybrid plants

Gregor Mendel - founder
and about 300,000 seeds
of "Mendelian genetics"
7 traits of peas in Mendel's experiments
Why did he choose this
species?

• Difference in characteristics, such as the appearance of seeds,

pods, flowers, and stems

• Self-fertilizing

• The ease of making crosses in hybridization

Dominant and Recessive Traits

Tall : Dominant

Dwarf : Recessive

Thousands of crossed Same result

Whether recessive would resurface in a later generation ?

Experiment:
Content Mendel’s law of segregation

The two alleles of a gene separate (segregate) from each

other during the process that gives rise to gametes, so every
gamete receives only one allele.
Cytological basis of Mendel’s law of segregation by meiosis
Experiment
 Mendel’s law of independent assortment

Content:
The alleles of different genes assort
independently of each other during the
process that gives rise to gametes.
Cytological basis of Mendel’s law of independent
assortment by meiosis
Cytological basis of Mendel’s law of independent
assortment by meiosis
 Simple
patterns of
inheritance
 2. Simple patterns of inheritance

- Inheritance patterns are the different ways in which traits are

passed from one generation to another.

Example:
Brown eye color and blue eye
color are both alleles for the
eye color gene
Simple patterns of inheritance
 Simple patterns of inheritance

Some genetic conditions are caused by variants

(also known as mutations) in a single gene. These
conditions are usually inherited in one of several
patterns, depending on the gene involved
Autosomal
If one parent has an autosomal
dominant dominant gene variant

D :is The non-working gene copy with

an autosomal dominant variant
d : is The working gene copy with an
autosomal dominant variant
If both parents have the autosomal dominant gene
variant
 Dominant
chromosome disease
in humans

Huntington disease is a progressive

brain disorder that causes
uncontrolled movements, emotional
problems, and loss of thinking ability
(cognition)
Autosomanl recessive

If both parents are genetic

carriers for the same autosomal
recessive condition

r : is non-working copy of
the gene containing a
recessive variant
R: is the working copy of the
gene
If one parent is a genetic carrier of the autosomal
recessive gene variant
 Recessive
chromosome
disease in humans

Hemophilia is a bleeding
disorder that slows the blood
clotting process. People with
this condition experience
prolonged bleeding or oozing
following an injury, surgery, or
having a tooth pulled
 Sex Chromosomes

In human, 22 pairs are the autosomal

chromosomes and the 23rd pair is made up
of the sex chromosomes called X and Y,
where X is longer and carries more genes
than Y.

Sex chromosomes are chromosomes that

contain sex-determining genes.
Male has an X and a Y chromosome and
female has two copies of the X
chromosome
 Morgan’s Experiment
Experiment: fruit flies-
Drosophila melanogaster
• The mutant gene "w" is
the allele for white eyes
• The allele "w+" for red
eyes

He explains the inheritance of fruit flies as follows:

The gene for eye color is found only on the X chromosome but not on the Y
chromosome. Therefore, in males (XY), only 1 recessive allele on the X
chromosome is needed to express the phenotype.
 X-linked recessive inheritance

If the mother is a carrier of an X-

linked recessive gene variant

r: The non-working X-linked recessive

gene copy

R: The working gene copy

X-linked recessive inheritance where the mother is a carrier of

the non-working copy of the X-linked gene.
 If the father is affected by an
X-linked recessive genetic condition

r: The non-working X-linked

recessive gene copy

X-linked recessive inheritance where the father has the non-working

copy of the X-linked gene
X-linked recessive inheritance are caused by variants in genes
on the X chromosome.
Males are affected by X-linked recessive disorders much more
frequently than females.
 X-linked recessive disease in humans

Color blindness
It is an eye disease in which people can see
things clearly but cannot distinguish some
colors.

The disease arises due to a mutation or lack of a

gene on the X chromosome that disrupts the
light-sensitive cells in the eye that are needed to
distinguish colors.
 X-linked dominant inheritance

If the mother is affected by a condition

caused by an X-linked dominant inheritance

D: The non-working copy of the X-linked

gene
d: The working gene copy

X-Linked dominant inheritance where the

mother has the?non-working X-linked
dominant gene copy and is affected
 If the father is affected by a condition
caused by an X-linked dominant
gene variant

D: The non-working copy of the

X-linked gene
d: the working gene copy

X-linked dominant inheritance where the father carries the X-

linked dominant gene copy and has the condition.
X-linked dominant inheritance are caused by variants in genes
on the X chromosome.
X-linked dominant disease in humans

Vitamin D–resistant rickets

The disease is born due to genetics. Affected

subjects are children over 1 year old.

Symptoms usually appear after a child begins

to walk, with bent legs and other bone
deformities, bone pain, and dwarfism.
Mitochondrial inheritance
 Mitochondrial inheritance

Mitochondria

• In nearly all types

of human cell

• Often referred to as
the powerhouses of
the cell
 Mitochondrial
inheritance

Mitochondria :
• Structure: 4 main
compartment

- Outer membrane
- Intermembrane space
- Inner membrane
- Matrix
 Mitochondrial
inheritance

Mitochondrial genome

• No intron regions
• The mutation rate of mitochondrial
DNA is 10 times higher than that of
nuclear DNA
• In 1 cell has a few types of
mutations, other some other didn't
=> Heteroplasmy
• Maternal inheritance
Mitochondrial inheritance
 Mitochondrial
inheritance

• Males, females can develop

disease
• Only females can pass disease
to offspring
Mitochondrial inheritance

Leber hereditary optic neuropathy

 Mitochondrial inheritance

Chronic progressive external ophthalmoplegia (CPEO)

 Thank you!

W E ' R E E X C I T E D TO W O R K W I T H Y O U .