Molecular Genetics — Flashcards

Flashcard 521: What is the mode of inheritance of neurofibromatosis I and II? _____

Answer: Autosomal dominant

Flashcard 522: Prothrombin 20210 mutation is a point mutation in the _____ region of the gene

Answer: 3' untranslated

Flashcard 523: What type of oncogene is ALK?_____

Answer: receptor tyrosine kinase

Flashcard 524: What is the mode of inheritance of the most common subtype of von Willebrand disease? _____

Answer: Autosomal dominant

Flashcard 525: A _____ is a base plus a sugar (ribose or deoxyribose) plus phosphate

Answer: nucleoTide

Flashcard 526: Which type of DNA mutation causes the most severe damage? _____

Answer: frameshift mutations

Flashcard 527: Microsatellites are repeating sequences of _____ DNA (coding or non-coding)

Answer: non-coding

Flashcard 528: The TSH receptor on the thyroid follicular cells may be stimulated by _____ in Graves Disease

Answer: TSI (thyroid-stimulating immunoglobulin)

Flashcard 529: NF2 is a tumor suppressor gene that encodes for the protein _____

Answer: merlin (schwannomin)

Flashcard 530: What is the mechanism of oncogene activation for **N-MYC**?

Answer: Gene amplification

Extra: N-MYC (MYCN) amplification is classically associated with **neuroblastoma** and indicates a poor prognosis. Note: N-MYC is located on chromosome 2.