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 (haploid cells) Fig. 2-8

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

Genetic Map of Drosophila Fig. 5-14

Drosophila melanogaster (Fruit Fly)

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

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

Single Crossover (SCO) Paternal Paired Homologous Chromosomes Maternal

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

Pedigree for Inheritance of Blood Type and Nail-Patella Syndrome

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

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

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

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

Neurexin Proteins

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”)

HIV-1 Structure (Gp120)

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

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)

CCR5 RFLP CCR5-1 CCR5-∆32

CCR5 Genotype Analysis Fig. 25-3

CCR5-∆32 Allele Frequency Fig. 25-4

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

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

FGFR3 Signal Transduction Pathways

LYSOSOMAL DEGREDATION DELAYED LYSOSOMAL DEGREDATION

FGFR3 Signal Transduction Pathways

Effect of Selection on Allele Frequency Fig. 27-7

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

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

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

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

RFLP Analysis of VNTR Loci Fig. 22-27