Heredity

Genetics is based on hereditary variation

Continuous variation
Discontinuous variation
Inheritance
Autosomal inheritance
Sex-linked inheritance
Cytoplasmic inheritance

Patterns of inheritance
Autosomal dominant inheritance :
One mutated copy of the gene in each cell is sufficient for a person
to be affected by an autosomal dominant disorder.

Eg: Huntington disease
Progressive brain disorder that
causes uncontrolled movements,
emotional problems, and loss of
thinking ability
Mutation in HTT gene : important in
neuron function
CAG repeats 10 35 in normal
36 120 in abnormal
Autosomal Recessive
Two mutated copies of the gene are present in each cell
when a person has an autosomal recessive disorder.
Eg: Cystic fibrosis
Inherited disease of the mucus
glands include progressive damage
to the respiratory system and
chronic digestive system problems
Mutations in CFTR gene
Impaired function of the chloride
channels, preventing them from
regulating the flow of chloride ions
and water across cell membranes
X-linked dominant
Caused by dominant mutations in genes on the X
chromosome
Eg: Fragile X syndrome
This disease is the most common
form of inherited mental
retardation
It is manifested cytologically by a
fragile site in the X chromosome
that results in breaks in vitro
X-linked recessive
Caused by recessive mutations in genes on the X
chromosome
Eg: Hemophilia
Due to the absence or malformation
of factor VIII
Codominant
In codominant inheritance, two different versions (alleles) of a
gene can be expressed, and each version makes a slightly
different protein. Both alleles influence the genetic trait or
determine the characteristics of the genetic condition.
Eg: ABO blood group
Mitochondrial
Eg: Optic neuropathy