BIO 2133 Lecture Notes - Lecture 2: Semiconservative Replication, Black M, White Trash
5 Feb 2018
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Classifications of mutations: somatic mutations, germ-line mutations, autosomal mutations can happen in germ-line, sex-linked mutations can happen in somatic cells, other classi cations based on structure and effect on function. Introducing a mutation: semiconservative replication, 2 rounds of replication to introduce mutation (2 cell divisions) 1 w. t. copy > enzyme activity above threshold needed for normal phenotype; so carriers unaffected the rule . Mutations in regulatory regions and introns: promotor: affect transcription, intron: affect splicing, 5" or 3" utr: affect translation or mrna stability, these changes could affect where, when and how much protein is made. If it was a heterozygote; it"s mutant because there"s a dysfunctional subunit not allowing it to come together for the enzyme. Identification: autosomal dominant, looked at family tree; which showed phenotype, analyzed the family"s dna sequences, found speech problem was caused by mutation in foxp2 gene located on chromosome 7 region 7q31. The drug 5-bromouracil (5bu) is used to treat certain forms of cancer.
