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Recessive and dominant heredity in humans
Most genetic disorders are caused by recessive alleles (Why?). Many of these alleles
(and the disorders) are rare, but can be more common in certain ethnic groups.
Simple recessive heredity
What
Disorder
Happens
Why it
Happens
Who Gets
It Most
1/2000
white
Americans
Cystic
Fibrosis
Thick mucus
in lungs and
digestive tract
defective
protein in the
cell membrane
Tay-Sachs
disease
dysfunction of
central nervous
system
missing a
Amish,
normal enzyme E. European
Jews
Phenylketonuria phenylalanine
builds up, damages CNS
missing a
normal enzyme
originally
Swedish +
Norwegian
people
Simple dominant heredity
Unattached
earlobes
earlobe not
attached to
head
no skin grew
anyone
polydactyly
six fingers
on a hand
extra bone
grows from
other fingers
mostly
Amish
people
Huntington
disease
brain breaks
down after age
30-50
not yet
known
certain families;
and a village
in S. America