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

5. Genetic Map of Drosophila
Fig. 5-14

6. Drosophila melanogaster (Fruit Fly)

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

8. 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

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

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

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

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

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

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

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

16. Neurexin Proteins

17. 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”)

18. HIV-1 Structure
(Gp120)

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

20. 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)

21. CCR5 RFLP
CCR5-1
CCR5-∆32

22. CCR5 Genotype Analysis
Fig. 25-3

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

24. 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

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

27. FGFR3 Signal Transduction Pathways

28. LYSOSOMAL DEGREDATION
DELAYED
LYSOSOMAL DEGREDATION

29. FGFR3 Signal Transduction Pathways

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

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

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

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

34. 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

35. RFLP Analysis of VNTR Loci
Fig