Molecular Genetics — Flashcards

What sequence of nucleotides is repeated in Friedreich ataxia?_____

Autosomal _____ diseases are often pleiotropic and variably expressive

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

What gene is defective in Menkes disease? _____

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

What class of enzymes breaks down DNA in apoptosis?_____

All RNA/DNA is _____ charged

The _____ is a particular consensus sequence of base pairs in a genome where DNA replication begins

Constitutive activation of FGFR3 _____ chondrocyte proliferation

Does a uniparental disomy result in euploidy or aneuploidy? _____