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BCMB 465
Human Genetics
 Fall
Semester, 2002
 MWF 1:25 - 2:15
 BGB 101
Overview of Course Syllabus
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Lectures & attendance
Exam schedule (no make-ups!)
– Sept 20, Oct 25, Nov 22, Dec 10 (Final)
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Assignments in informatics & writing
– Sept 23, Nov 11
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Website
Expectations:
– A or B in Biol 240
– Willingness to work hard
Overview of Course Content
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Focus on human genetic conditions
– Single gene defects
– Complex defects (multigene & multi factorial)
– Cytogenetic defects
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An end goal will be how to relate:
– Phenotype (e.g., coronary heart disease)
– Sequence (e.g., entire string of AGCT available)
Introductory Questions
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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
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Segregation of determinants into
gametes
Random assortment of determinants for
different traits
Founded in mechanisms of MEIOSIS