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Lecture 2

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Biology 3466B
Yolanda Morbey

Handout 2 • Large effect mutations o Marfan syndrome (large people, heart problems and other defects in body) • Mutation rate = number of mutations/locus/generation or number of mutations/genome/generation o Methods to compare mutation rates  Population survey • Large population to get good accuracy  Direct methods using molecular data • Observing mutation in action across generation and counting how many mutation rates happen • Cant do in humans but can in some model organisms • Survey: HIV infection pathway o Hard because we don’t have lots of mutation data across generations o See handout for diagram for how HIV works o Correceptor CCR5 • CCR5 genotyping o Steps:  Extract DNA  Amplify gene using polymerase chain reaction (PCR) – gets lots of copies of gene of interest  Cut DNA sequences with restriction enzyme  Run fragments on electrophoresis gel o Survey the distribution of CCR5-∆32  Individuals with deletion are more resistant to HIV1 Survey: Genetic diversity of CF gene • Survey: genetic diversity of CF gene o People with CF have disfunctional gene and are unable to fight off bacteria and as a result have difficulty breathing and absorbing nutrients by the intestine. Not expected to live beyond their 30s o There are over 500 mutations that can cause CF that all occur at this gene o Every where there is a blue line is a spot where you can nuclear get CF DNA o 15000 individuals, 30000 alleles. Graph shows the survey of the gene o Mutations occur all the way along the length of the gene but most common in the binding region • May be surveys to see mutation in characteristic or you may have to test the genome • Direct method: in C. elegans o Mutation accumulation line(MAL) Direct method: in C. elegans  Allows them to live in an environment with all the things they need to survive. Very
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