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hms_2824 - Population Genetics in the Genomic Era Marco F....

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Unformatted text preview: Population Genetics in the Genomic Era Marco F. Ramoni Childrens Hospital Informatics Program and Harvard Partners Center for Genetics and Genomics Harvard Medical School HST 512/513 Harvard-MIT Division of Health Sciences and Technology HST.512: Genomic Medicine Prof. Marco F. Ramoni Introduction On February 12, 2001 the Human Genome Project announces the completion of a first draft of the human genome. Among the items on the agenda of the announcement, a statement figures prominently: A SNP map promises to revolutionize both mapping diseases and tracing human history. SNP are Single Nucleotide Polymorphisms, subtle variations of the human genome across individuals. You can take this sentence as the announcement of a new era for population genetics. HST 512/513 Background 80s revolution and HGP Genetic Polymorphisms Their nature Types of polymorphisms Foundations Terminology Hardy Weinberg Law Types of inheritance Complex Traits Definition Factors of Complexity Outline Study and Experiment Design Case Control Studies Pedigree Studies Analysis Methods Association Studies Linkage Studies Allele-sharing Studies QTL Mapping The New Ways Haplotypes HapMap htSNPs HST 512/513 Background Intuition : We can find the genetic bases of observable characters (like diseases) without knowing how the actual coding works. Origins : Sturtevant (1913) finds traits-causing genes. Early History : Genetic maps of plants and insects. Outcast : Ernst Mayr called it Beans bag genetics. Reasons : No markers to identify coding regions. Markers : Botstein (1977) showed that naturally occurring DNA already contains markers identifying regions of the genome: polymorphisms . HST 512/513 Central Dogma of Molecular Biology DNA RNA mRNA Proteins Traits Diseases Physiology Drug Resistance Metabolism HST 512/513 The 80s Revolution and the HGP The intuition that polymorphisms could be used as markers sparkled the revolution. Mendelian (single gene) diseases: Autosomal dominant (Huntington). Autosomal recessive (C Fibrosis). X-linked dominant ( Rett ). X-linked recessive (Lesch-Nyhan). Today, over 400 single-gene diseases have been identified. This is the promise of the HGP. HST 512/513 ADD1 D4S98 16.3 16.2 16.1 15.3 15.2 15.1 14 13 12 11 Chromosome 4 Short Arm (4p) DNA Markers Delineating HD Region DNA Markers Delineating HD Region Genes in the HD Region IT10C3 GPRK2L (CAG)n (CAG)n HD HD D4S182 D4S180 D4S10 D4S95 D4S127 2642 Terminology Allele : A sequence of DNA bases. Locus : Physical location of an allele on a chromosome. Linkage : Proximity of two alleles on a chromosome. Marker : An allele of known position on a chromosome. Distance : Number of base-pairs between two alleles....
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This note was uploaded on 03/27/2008 for the course HST 512 taught by Professor Ramoni during the Spring '06 term at MIT.

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hms_2824 - Population Genetics in the Genomic Era Marco F....

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