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Unformatted text preview: Enumerate the different forms of  inherited and somatic DNA sequence variations Define “polymorphism”: DNA sequence variation that is frequent in the population Describe the role of random genetic drift in population differentiation and “races” Define hardyWeinberg equilibrium and factors that create deviations from it (if the test fail – what are the factors) Exploit Bayes rule in assessing genotype carrier/frequency probabilities Vocab: Single Nucleotide Polymorphism or Variant (SNP/SNV); indel; inversion; Copy Number Variant (CNV); drift; genetic differentiation; Hardy Weinberg equilibrium; consanguinity; Bayes rule Outline: Population Genetics 1. Forms of DNA Sequence Variation 2. Polymorphism: Example Resources for Population Genetics 3. Population Differentiation 1. Lewontin’s study 2. Modern Population Genetics 4. Random Drift, Population Differentiation, and Evolution 1. Sewall Wright and Genetic Drift 2. Random/Stochastic Processes in Phenotypic Emergence 5. HardyWeinberg Equilibrium (HWE) 1. Calculation 2. Deviations from HWE 6. Bayes Rule and Conditional Genotype Probabilities Forms of DNA Sequence Variation Most abundant is the single nucleotide variant Insertion/deletion variant Inversion – the entire sequence is inverted Copy number variant – entire stretches of genome (LARGE chunk) are repeated through the genome o i.e. it can cover the functional copy of a gene how likely is it to arise  females – meiosis done very early in life – a pool of eggs that is there through out life  males – sperm is being generating throughout life o new mutation frequency is probably contributed by males more than females (simply because it can occur throughout life and not just there already) Enumerate the different forms of  inherited and somatic DNA sequence variations Define “polymorphism”: DNA sequence variation that is frequent in the population Describe the role of random genetic drift in population differentiation and “races” Define hardyWeinberg equilibrium and factors that create deviations from it (if the test fail – what are the factors) Exploit Bayes rule in assessing genotype carrier/frequency probabilities Vocab: Single Nucleotide Polymorphism or Variant (SNP/SNV); indel; inversion; Copy Number Variant (CNV); drift; genetic differentiation; Hardy Weinberg equilibrium; consanguinity; Bayes rule Outline: Population Genetics 7. Forms of DNA Sequence Variation 8. Polymorphism: Example Resources for Population Genetics 9. Population Differentiation 1. Lewontin’s study 2. Modern Population Genetics 10. Random Drift, Population Differentiation, and Evolution 1. Sewall Wright and Genetic Drift 2. Random/Stochastic Processes in Phenotypic Emergence 11. HardyWeinberg Equilibrium (HWE) 1. Calculation 2. Deviations from HWE 12. Bayes Rule and Conditional Genotype Probabilities Population Genetics  Polymorphism: Example Resources for Population Genetics o The HapMap Database ( www.hapmap.org ) Hap – a stretch of nucleotide that is transmitted and pass...
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This note was uploaded on 09/14/2011 for the course PHARM HB taught by Professor Staff during the Spring '11 term at UCSD.
 Spring '11
 staff

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