BIO_SC 2200 Study Guide - Midterm Guide: Pyrimidine Dimer, Recombinant Dna, Dna Replication
8 May 2019
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Document Summary
Mutation-- any heritable change in genetic material not caused by recombination; can change the function of a gene source of new alleles evolution can act on these new alleles. Sources of genetic variation, cause of human disease, raw material for the evolutionary process, allows geneticists to study biological processes. Point mutation-- a change at one location along dna sequence; single base pair change, insertion/deletion, frameshift, etc. Base-pair substitution-- one nucleotide base is replaced by another nucleotide base. Transition--purine replaces purine or pyrimidine replaces pyrimidine; more common than transversions in the human genome. Transversion-- a purine replaces a pyrimidine or vice versa; more deleterious bc the degeneracy of the genetic code is better at handling transitions. Missense-- change an amino acid to another amino acid. Nonsense-- change an amino acid to a stop codon; translation terminated. Neutral-- most mutations are neutral go undetected and do not change protein function.
