Molecular Genetics — Flashcards

Flashcard 801: What type of oncogene is PDGFB?_____

Answer: Growth factor

Flashcard 802: A _____ is type of DNA mutation in which a purine is mutated to another purine (or pyrimidine to pyrimidine)

Answer: transition

Flashcard 803: The most common type of Charcot-Marie-Tooth (CMT1A) is a duplication of large region of 17p which results in a mutation of _____

Answer: PMP22

Flashcard 804: Which type of antibody digestion results in a bivalent F(ab')2 fragment and degraded Fc fragments? _____

Answer: Pepsin cleavage

Flashcard 805: What enzyme is targeted by anti-Scl-70 antibodies? _____

Answer: DNA topoisomerase I

Flashcard 806: Is DNA synthesis high or low fidelity? _____

Answer: High

Flashcard 807: In females, one of two X-chromosomes is condensed and its genes turned off by _____, forming heterochromatin (lyonization)

Answer: cytosine methylation (specific action)

Flashcard 808: The NF1 tumor suppressor gene normally codes for neurofibromin, a negative regulator of _____

Answer: RAS

Flashcard 809: What two types of variations in DNA are detected when using microarrays? (DNA markers)_____

Answer: - Single nucleotide polymorphisms (SNPs) - Copy number variations (CNVs)

Flashcard 810: β-thalassemia is usually caused by gene _____.

Answer: Mutations (specifically point mutations in splice sites and promoter sequences)

Extra: In contrast, **α-thalassemia** is usually caused by gene **deletions**.