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