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BCMB 465 Human Genetics

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

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BCMB 465 Human Genetics

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  1. BCMB 465 Human Genetics • Fall Semester, 2002 • MWF 1:25 - 2:15 • BGB 101

  2. 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

  3. 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)

  4. 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?

  5. Mendel’s Laws • Segregation of determinants into gametes • Random assortment of determinants for different traits • Founded in mechanisms of MEIOSIS

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