overview: genetic mapping basic principles genetic mapping in experimental organisms genetic mapping...
TRANSCRIPT
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Overview: Genetic Mapping
Basic Principles
Genetic Mapping in Experimental Organisms
Genetic Mapping in Humans
Genes, RFLPs, SNPsMeiosis, Independent Assortment, Linkage and Crossing Over
Two- and Three-point crossesComplementation Analysis
Pedigree Analysis
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Function of Human Genes
Fig. 20-13Pg. 497
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Genetic Map of Drosophila
Fig. 5-14
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Fig. 2-8
Gametes(haploid cells)
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Crossing Over Occurs Between DNA of Homologous Chromosomes
Paternal
Maternal
PairedHomologousChromosomes
A
A
a
a
b
b
B
BaB
Ab
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Pairing of Homologous Chromosomes
P
M
Fig. 2-13, 2-14
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Crossing Over Occurs Between DNA of Homologous Chromosomes
Paternal
Maternal
PairedHomologousChromosomes
A
A
a
a
b
b
B
BaB
Ab
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Drosophila melanogaster (Fruit Fly)
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Drosophila melanogaster (Fruit Fly)
Phenotypes• eye color• body color• wing shape• antenna length• bristle pattern
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Gene NameRecessive Allele
Dominant Allele (WT)
Curled Wings
Sepia Eyes sese+
Striped Body
Javelin Bristles
cucu+
jvjv+
srsr+
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Double Crossover (DCO)
PairedHomologousChromosomes
Paternal
Maternal
DCO Products
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February 2007
1168 Family Pedigrees with at least two ASD individuals
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Neurexin Proteins
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Pedigree for Inheritance of Blood Type and Nail-Patella Syndrome
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GelElectrophoresis
I
II
Pedigree for Inheritance of ASD and a DNA Marker
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M LASD
~ 2 cM
orf1 orf2 orf3 orf4
~ 500,000 bp
Band11q13
Chromosome 11
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Population Genetics (Chapter 25)
Mendelian Genetics Applied to Populations
The Hardy-Weinberg Equation (p2 + 2pq + q2)
Test populations for microevolutionEstimate frequency of carriers for recessive genetic disordersAssess effect of natural selection and mutation on microevolutionAssess effect of inbreedingDNA Profiling (“DNA fingerprinting”)
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HIV-1 Structure
(Gp120)
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HIV Infection Pathway
Protein encodedby CCR5-1 allele(CCR5-1 / CCR5-1 or CCR5-1 / CCR5-∆32)
HIV-1
Gp120
Cytosol
Extra-cellularSpace
Membrane
CCR5
CD4
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CCR5 RFLP
CCR5-1
CCR5-∆32
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CCR5 Genotype Analysis
Fig. 25-3
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CCR5-∆32 Allele Frequency
Fig. 25-4
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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 toanother 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 619-620
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Fig. 25-7
Effect of Selection on Allele Frequency
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Fig. 25-8
Changes in CCR5-∆32 Allele Frequency
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Fibroblast Growth Factor 3 (FGFR3) Receptor
840 amino acids
2520 bp ORF
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FGFR3 Signal Transduction Pathways
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Fibroblast Growth Factor 3 (FGFR3) Receptor
GA
C(Gly to Arg)
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DELAYED LYSOSOMAL DEGREDATION
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Homozygosity as a Function of Inbreeding
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GTCTAG GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC CAGATC
Tandem Repeat Locus
(a.k.a VNTR, STR, Microsatellite)
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VNTR-DVNTR-CVNTR-B VNTR-E VNTR-FVNTR-A
Chromosome 7
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VNTR-DVNTR-CVNTR-B VNTR-E VNTR-FVNTR-A
7M
7P
GTCTAG GTCTAG GTCTAGCAGATC CAGATC CAGATC
GTCTAG GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC CAGATC
7M
7P
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Fig. 22-27
RFLP Analysis of VNTR Loci