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BCMB 465 Human Genetics

This course offers an in-depth exploration of human genetic conditions, including single gene defects, complex multigenic issues, and cytogenetic defects. Students will learn about the relationship between phenotypes and genetic sequences, genetic nomenclature, and various molecular genetics techniques such as PCR and microarrays. Successful completion of Biol 240 with a grade of A or B, along with a willingness to engage and work hard, is required. Key assessments include attendance, assignments in informatics, and exams scheduled throughout the semester.

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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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