Class 40 - McQueen

Class 40 - McQueen - Human Genetics in the Post-Genome Era...

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Unformatted text preview: Human Genetics in the Post-Genome Era Matt McQueen Assistant Professor Institute for Behavioral Genetics University of Colorado at Boulder What are we learning about The Past Population Genetic History and Evolution Insights The Present Molecular Insights and Gene-Mapping for Disease The Future Cloning and Ethical Considerations What are we learning about The Past Population Genetic History and Evolution Insights The Present Molecular Insights and Gene-Mapping for Disease The Future Cloning and Ethical Considerations Some Terminology Locus- A location in the genome Gene- A DNA segment characterized by sequence, transcription or homology Allele- Different forms of a gene: A, a; B, b Some Terminology Homozygote- AA, aa Heterozygote- Aa Modes of Inheritance- Additive: aa < Aa < AA- Dominant: aa < Aa,AA- Recessive: aa, Aa < AA DNA Variation DNA- Adenine (A)- Guanine (G)- Cytosine (C)- Thymine (T) DNA double helix- A pairs with T and G pairs with C Codons- Triplets of bases- 64 possible codons- 20 amino acids Mutations Point- Substitute one base for another Deletions- Base removed entirely Insertions- Base inserted Duplications- Base and/or sequence duplicated Mutations Point- Substitute one base for another Deletions- Base removed entirely Insertions- Base inserted Duplications- Base and/or sequence duplicated More on Point Mutations Base pair substitution- (e.g. replication error) Synonymous- No change in amino acid Nonsynonymous- Amino acid change Transitions- Between A and G or C and T- Change within same base (purines and pyramidines) Transversions- All others- Change between bases Mutation Model Infnite Sites Model- Each mutation creates a unique polymorphic site- Mutation rate ~ 10-6 Life After Mutation Mutation is neutral- Random Genetic Drift- Eventually, the allele will drift out Mutation is harmful- Selective Pressure- Allele may quickly disappear Mutation is beneFcial- Selective Pressure- Allele frequency may increase rapidly Human Genetic History...
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This note was uploaded on 02/25/2010 for the course MCDB 2150 taught by Professor Winey,mark during the Spring '06 term at Colorado.

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Class 40 - McQueen - Human Genetics in the Post-Genome Era...

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