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Genetic Mapping (Chapt. 5)

Genetic Mapping (Chapt. 5). Basic Principles. Genes, RFLPs, SNPs Meiosis, Independent Assortment, Linkage and Crossing Over. Genetic Mapping in Experimental Organisms. Two- and Three-point crosses Complementation Analysis. Genetic Mapping in Humans. Pedigree Analysis. Gametes

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Genetic Mapping (Chapt. 5)

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  1. Genetic Mapping (Chapt. 5) Basic Principles Genes, RFLPs, SNPs Meiosis, Independent Assortment, Linkage and Crossing Over Genetic Mapping in Experimental Organisms Two- and Three-point crosses Complementation Analysis Genetic Mapping in Humans Pedigree Analysis

  2. Gametes (haploid cells) Fig. 2-8

  3. A B Paternal Paired Homologous Chromosomes Maternal a b b A Ab aB B a Crossing Over Occurs Between DNA of Homologous Chromosomes

  4. Genetic Map of Drosophila Fig. 5-14

  5. Drosophila melanogaster (Fruit Fly)

  6. Drosophila melanogaster (Fruit Fly) • Phenotypes • eye color • body color • wing shape • antenna length • bristle pattern

  7. Dominant Allele (WT) Recessive Allele Gene Name se+ se Sepia Eyes cu+ cu Curled Wings sr+ sr Striped Body jv+ jv Javelin Bristles

  8. Single Crossover (SCO) Paternal Paired Homologous Chromosomes Maternal

  9. Double Crossover (DCO) Paternal Paired Homologous Chromosomes Maternal DCO Products

  10. Pedigree for Inheritance of Blood Type and Nail-Patella Syndrome

  11. Pedigree for Mapping of HD and a DNA Marker I Gel Electrophoresis

  12. Pedigree for Mapping of HD and a DNA Marker I II Gel Electrophoresis

  13. February 2007 1168 Family Pedigrees with at least two individuals with Autism Spectrum Disorder

  14. M ASD L ~ 2 cM ~ 500,000 bp orf1 orf2 orf3 orf4 Chromosome 11 Band 11q13

  15. Neurexin Proteins

  16. Population Genetics (Chapter 27) Mendelian Genetics Applied to Populations The Hardy-Weinberg Equation (p2 + 2pq + q2) Test populations for microevolution Mutation rate in humans Estimate frequency of carriers for recessive genetic disorders Assess effect of natural selection on microevolution Assess effect of inbreeding DNA Profiling (“DNA fingerprinting”)

  17. HIV-1 Structure (Gp120)

  18. HIV Infection Pathway HIV-1 Extra-cellular Space Gp120 CD4 Membrane CCR5 Cytosol

  19. HIV Infection Pathway HIV-1 Extra-cellular Space Gp120 CD4 Membrane CCR5 Cytosol Protein encoded by CCR5-1 allele (CCR5-1 / CCR5-1 or CCR5-1 / CCR5-∆32)

  20. CCR5 RFLP CCR5-1 CCR5-∆32

  21. CCR5 Genotype Analysis Fig. 25-3

  22. CCR5-∆32 Allele Frequency Fig. 25-4

  23. Assumptions of the Hardy-Weinberg Equation Individuals of all genotypes have equal rates of survival and reproductive success (no selection). No new alleles are created or converted from one allele to another by mutation. Individuals do not migrate into or out of the population (no gene flow). The population is infinitely large (no genetic drift). Individuals in the population mate randomly (no inbreeding) Page 713

  24. Fibroblast Growth Factor 3 (FGFR3) Receptor A G (Gly to Arg) Achondroplasia Mutations: C

  25. FGFR3 Signal Transduction Pathways

  26. DELAYED LYSOSOMAL DEGREDATION

  27. FGFR3 Signal Transduction Pathways

  28. Effect of Selection on Allele Frequency Fig. 27-7

  29. Changes in CCR5-∆32 Allele Frequency Fig. 27-8

  30. VNTR-A VNTR-B VNTR-C VNTR-D VNTR-E VNTR-F Chromosome 7

  31. Tandem Repeat Locus GTCTAG GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC CAGATC (a.k.a VNTR, STR, Microsatellite)

  32. 7M VNTR-A VNTR-B VNTR-C VNTR-D VNTR-E VNTR-F 7P GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC 7M GTCTAG GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC CAGATC 7P

  33. RFLP Analysis of VNTR Loci Fig. 22-27

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