MCB 2400 Lecture Notes - Lecture 5: Sickle-Cell Disease, Point Mutation, Pyrimidine
14 Dec 2016
School
Department
Course
Professor
Document Summary
Albino mutation in melanin production gene. Individual who inherits two defective copies of gene. Heritable change in the genetic material (can be passed on to daughter cells) Somatic: mutation occurs in the pre-mitotic cell: do not place on to children/offspring. Germline: mutation occurs in the pre-meiotic cell: mutation is passed to child. Three basic types of gene mutations (5" 3" (cid:272)odi(cid:374)g strand) Base insertion: start with original sequence and alters all downstream amino acids from point downstream insertion by adding a base. Amino acid can remain unchanged, be altered to different a. a. , or be eliminated. Silent/ same sense/synonymous mutation: because of degeneracy in genetic code, changed codon but same aa specified. Missense: altered, misspelling, different amino acid being specified, only impacting one amino acid. Creates a new stop codon: early termination of translation. Eliminate series of aa that should be present in chain.
