BIOL 2104 Lecture Notes - Lecture 6: Base Pair, Wild Type, Chromosome
22 Feb 2019
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Document Summary
Mutation heritable alteration in dna sequence: acquired by daughter cell (cell division) or offspring (reproduction, chromosomal arrangement deletion, insertion or duplication of part of chromosome. Single base pair substitution change of one base. Deletion or insertion of base pairs - loss or gain of a base: may occur in somatic or germ cells. Somatic mutations occur in any cell except germ cells (not heritable) Germ-line mutations occur in gametes (heritable: may occur in coding or non-coding regions. Autosomal mutations occur within in genes located on autosomes. X-linked and y-linked mutations occur within genes located on sex chromosomes. Loss of function mutations reduces/eliminates function of gene product: often recessive but dominant negative mutations result from inactivation of wild-type by non-functional mutant. Null mutation results in complete loss of function. Lethal mutation interrupt essential process and result in death. Gain of function mutations results in gene product with enhanced, negative, or new function often dominant. Regulatory mutations affect regulation of gene expression.
