BCMB 465 Human Genetics

1
BCMB 465 Human Genetics

• Fall Semester, 2002
• MWF 125 - 215
• BGB 101

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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

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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)

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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?

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Mendels Laws

• Segregation of determinants into gametes
• Random assortment of determinants for different
  traits
• Founded in mechanisms of MEIOSIS