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BCMB 465 Human Genetics Fall Semester, 2002 MWF 1:25 - 2:15 BGB 101 Overview of Course Syllabus Lectures & attendance Exam schedule (no make-ups!) – Sept 20, Oct 25, Nov 22, Dec 10 (Final) Assignments in informatics & writing – Sept 23, Nov 11 Website Expectations: – A or B in Biol 240 – Willingness to work hard Overview of Course Content Focus on human genetic conditions – Single gene defects – Complex defects (multigene & multi factorial) – Cytogenetic defects An end goal will be how to relate: – Phenotype (e.g., coronary heart disease) – Sequence (e.g., entire string of AGCT available) Introductory Questions Chromosomes: how many in humans? how many homologous pairs? how many autosomal? how many sex? Genes: relationship between gene and allele? How many alleles per gene in single individual? What is a haplotype? Genotype to phenotype: dominance? co-dominance? what is relationship between “dominant” and “wildtype”? what are polymorphisms? – Human gene nomenclature & designation by mutant phenotype (e.g., the “CF gene”) Molecular genetics: what are Southern, northern and western blots? what are RFLPs, microsatellites and SNPs and how are they used? what is PCR? what are microarrays? Mendel’s Laws Segregation of determinants into gametes Random assortment of determinants for different traits Founded in mechanisms of MEIOSIS