Overview: Genetic Mapping Basic Principles Genetic Mapping in Experimental Organisms Genetic Mapping in Humans Genes, RFLPs, SNPs Meiosis, Independent Assortment, Linkage and Crossing Over Two- and Three-point crosses Complementation Analysis Pedigree Analysis

Function of Human Genes Fig Pg. 497

Genetic Map of Drosophila Fig. 5-14

Fig. 2-8 Gametes (haploid cells)

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

Pairing of Homologous Chromosomes P M Fig. 2-13, 2-14

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

Drosophila melanogaster (Fruit Fly)

Phenotypes eye color body color wing shape antenna length bristle pattern

Gene Name Recessive Allele Dominant Allele (WT) Curled Wings Sepia Eyes sese + Striped Body Javelin Bristles cucu + jvjv + srsr +

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

February Family Pedigrees with at least two ASD individuals

Neurexin Proteins

Pedigree for Inheritance of Blood Type and Nail-Patella Syndrome

Gel Electrophoresis I II Pedigree for Inheritance of ASD and a DNA Marker

M L ASD ~ 2 cM orf1orf2orf3orf4 ~ 500,000 bp Band 11q13 Chromosome 11

Population Genetics (Chapter 25) Mendelian Genetics Applied to Populations The Hardy-Weinberg Equation (p 2 + 2pq + q 2 ) Test populations for microevolution Estimate frequency of carriers for recessive genetic disorders Assess effect of natural selection and mutation on microevolution Assess effect of inbreeding DNA Profiling (“DNA fingerprinting”)

HIV-1 Structure (Gp120)

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

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 1.Individuals of all genotypes have equal rates of survival and reproductive success (no selection). 2.No new alleles are created or converted from one allele to another by mutation. 3.Individuals do not migrate into or out of the population (no gene flow). 4.The population is infinitely large (no genetic drift). 5.Individuals in the population mate randomly (no inbreeding) Page

Fig Effect of Selection on Allele Frequency

Fig Changes in CCR5-∆32 Allele Frequency

Fibroblast Growth Factor 3 (FGFR3) Receptor 840 amino acids 2520 bp ORF

FGFR3 Signal Transduction Pathways

Fibroblast Growth Factor 3 (FGFR3) Receptor G A C (Gly to Arg)

DELAYED LYSOSOMAL DEGREDATION

Homozygosity as a Function of Inbreeding

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

VNTR-DVNTR-CVNTR-BVNTR-EVNTR-FVNTR-A Chromosome 7

VNTR-DVNTR-CVNTR-BVNTR-EVNTR-FVNTR-A 7M7M 7P7P GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC GTCTAG GTCTAG CAGATC CAGATC 7M7M 7P7P

Fig RFLP Analysis of VNTR Loci