Autosomal Recessive Inheritance Flashcards
most common type of inheritance
autosomal recessive inheritance
same mutation but has different phenotype in individuals affected
variable expressivity
this disorder deals with variable expressivity and is tissue-specific (lungs mainly)
cystic fibrosis
sx’s include:
progressive pulmonary disease**
obstructive azoospermia
elevated sweat Cl- concentration**
exocrine pancreatic insufficiency
cystic fibrosis
most common fatal autosomal recessive genetic disorder of children in white populations
mutation in deltaF508 (CFTR gene)
cystic fibrosis
disease that deals with compound heterozygosity and heterozygote advantage (for malaria)
sickle cell disease
anemia, infarction, and functional asplenia, dactylitis (painful swelling of hands and feet); mutation in beta-globin chain leads to HbS
sickle cell disease
accumulation of copper in liver, brain, and eye
Wilson’s Disease
Kayser-Fleischer rings around cornea (brown ring) **
cirrhosis and hepatitis*
trouble speaking, anxiety
Wilson’s Disease
mutation in ATP7 gene** that transports copper into bile and then to be excreted
Wilson’s disease
defect in globin alpha chains; prenatal period
alpha-thalassemia
most common mutation of alpha-thalassemia
deletion
infants with severe alpha-thalassemia and high levels of Hb Bart’s (gamma4) have massive fluid accumulation
hydrops fetalis
defect in beta globin chains; postnatal period
beta-thalassemia
most common mutation of beta-thalassemia
point mutation
