Molecular Genetics — Flashcards

Is the ALAS gene defect in congenital sideroblastic anemia an autosomal or X-linked defect? _____

Autosomal _____ diseases are often pleiotropic and variably expressive

What sequence of nucleotides is repeated in Friedreich ataxia?_____

Is achondroplasia typically seen in patients with homozygous or heterozygous mutations?_____

What class of enzymes breaks down DNA in apoptosis?_____

_____ muscular dystrophy is typically due to frameshift or non-sense mutations, resulting in a truncated or absent dystrophin protein

Constitutive activation of FGFR3 _____ chondrocyte proliferation

_____ is a lysosomal storage disease caused by splice site mutations.

Does a uniparental disomy result in euploidy or aneuploidy? _____

All RNA/DNA is _____ charged