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inheritance patterns: disease examples (autosomal recessive (sickle cell…
inheritance patterns:
disease examples
autosomal dominant
Marfan's syndrome
exhibits pleiotropy
shows complete penetrance
exhibits extreme variability
caused by a mutation in FBN1 gene
achondroplasia
dx is confirmed using an x-ray
exhibits little phenotypic variability
complete penetrance
homozygous form of the disease is lethal
caused by a mutation in FGRF3
neurofibromatosis
caused by mutations in NF1 gene
complete penetrate (however more features appear with age)
shows pleiotropic effects
shows extreme variability of expression
autosomal recessive
sickle cell disease
cystic fibrosis
Tay-Sachs
Hemochromatosis
X-linked
hemophilia
mitochondrial
Leber's Hereditary optic neuropathy
precipitous vision loss in the 20's
Heteroplasmy:
when there is a mtDNA mutation in some, but not all, of the mitochondia of a cells (or cells)