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Lecture 7

Lecture 7 - Population Genetics - Part 2

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Esteban Parra

Population Genetics II Four Evolutionary Forces - Mutation - Random Drift - Natural Selection - Gene Flow - Interaction of these forces Mutation - Ultimate source of genetic variation - When DNA is copied mistakes can occur - Mutations occur rarely (about 1 error in 10,000,000 bases) - These become new alleles in the population Types of DNA Mutations - Some times mutations affect large chromosomal regions - More often, they involve nucleotide substitutions, or small insertion/deletions - Let’s review some examples of mutations in these two main categories Visible Chromosomal Mutations - Deletion: the elimination of a nucleotide (one or more) - Duplication: when the same region is duplicated, and there may be two of the same chromosome rather than one - Insertion: when one chunk of the chromosome ends up on a different chromosome - Paracentric inversion: situations in which the order of the genetic material is inverted - Pericentric inversion: affecting the order of the centromere - Reciprocal translocation: segment of a chromosome, exchange of chromosome from one to the next (happens in two chromosomes) - Robertsonian translocation: o When you compare chimps and humans, the number of chromosomes are different, (we have 23, and chimps have 24) o Because of robertsonian translocation that happened between the split of homo sapiens o Chromosome number 2 is the result of the robertsonian that were present in the chimpanzees Nucleotide Substitutions and Small Insertion/Deletions - Transition: (more frequent) o CT or G A - Transversion: o GC or AT How Mutations Affect Protein Synthesis - Synonymous or Silent: if there is a change in the third base, it may code for the same amino acid o Ie. GTC is coded for the amino acid VAL, and if it changes to GTA, it still codes for amino a
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