1.2 Autosomal Recessive Flashcards
1
Q
AR diseases are only present in the
A
homozygous state – heterozygous is carrier state
2
Q
If AR gene is rare
A
consanguinity of parents is probable
3
Q
expression is uniform
A
100% penetrance
4
Q
onset of AR diseases
A
early in life
5
Q
largest body of metabolic disorders are
A
AR diseases
6
Q
AR features
A
males and females equally affected, carrier shows no disease, with 2 carrier patients 3/4 will have the gene, new mutations are not see bc they would only affect one copy
