Molecular Genetics — Flashcards

What gene is defective in Menkes disease? _____

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

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

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

What chromosome is cyclin D1 located on? _____

A _____ mutation occurs when a nucleotide substitution codes for a stop codon

Upregulation of _____ prevents chromosomal shortening and cell death in tumors

What type of probe is used to bind DNA/RNA when using a Southern/Northern blot? _____

If two linked genes have a recombination frequency of 15%, approximately how far apart are they?_____

Which tumor suppressor genes are associated with colon cancer?_____