Inherited Diseases - bakerbiologygenetics
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Transcript Inherited Diseases - bakerbiologygenetics
Inherited Diseases
Autosomal Recessive and
Autosomal Dominant
Patterns of Inheritance
Autosomal Recessive
Is caused by a recessive allele bb.
Relatively Rare
Common in ethnic groups
Cystic Fibrosis
Most common among white Americans
Approximately 1 and 20 white Americans
are carriers.
1 in 2000 babies are born with CF
It is due to a defective protein in the
plasma membrane, it results in the
formation & accumulation of thick mucus
in the lungs and digestive tract.
Tay-Sachs
Affects the Central Nervous System
Results in the absence of an enzyme that
breaks down lipids in the CNS.
Common in Amish, and Ashkenzic Jews.
Babies only live to around the age 5
1 in 27 babies are born with the disease.
PKU- Phenylketonuria
Results in the absence of enzyme that
converts phenylalanine into tryosine.
Therefore it accumulates in the body and
results in damage to the CNS.
Most common in Sweden and Norway.
Causes mental retardation.
Can be controlled by removing foods that
contain phenylalanine in their diets.
Autosomal Dominance
Results from a dominant allele. Therefore,
if the individual has at least 1 allele, the
trait will be present.
Most dominant diseases are rare.
Huntington’s Disease
Results in the breakdown of certain areas
of the brain.
Lethal
onset is around age 30-50
normally pass down allele before they
realize they have the trait.
Simple Dominant Traits
Tongue Rolling
Hapsburg lip (large
lower lip)
Hanging earlobes
hitchhiker’s thumb
almond shaped eyes
thick lips
long eye lashes
Presence of hair in
middle section of the
fingers
close set eyes
(distance between
the eyes)
Hair texture (curly is
dominant)
Polydactyl- 6 fingers.
Rare but dominant.