organization of genetics course molecular genetics cytogenetics transmission genetics
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Organization of Genetics Course
Molecular Genetics
Cytogenetics
Transmission Genetics
Population Genetics
Molecular GeneticsIdentification of DNA as the genetic materialStructure of DNAFunction of Genes
Gene (DNA) RNA PROTEINGene Regulation
Mutation and Genetic Variation (origin of alleles)Linking diseases to specific allelesGenetic Technologies
Genetic testingGene Therapy
GenomicsIdentification, sequencing and mapping of all human genesEvolution of the human genome
CytogeneticsMeiosisChromosome Theory of InheritanceKaryotypesIdentification of Chromosome Abnormalities
Transmission GeneticsMendelian Principles
Alleles, Dominant/RecessiveGenotype Determines Phenotype
Extensions to Mendelian PrinciplesMultiple allelesLethal allelesAdditive allelesCo-dominancePartial dominanceEpistasisLinkage and Genetic Mapping
Population GeneticsMendelian and Molecular Genetics of Populations
Frequency of alleles (e.g., “disease” alleles)How allele frequency changes over timeDNA Fingerprinting
p2 + pq + q2 = 1
Normal Red Blood Cell
Sickle Cell AnemiaRed Blood Cell
Hemoglobin
Allele (DNA) RNA Protein
Genotype/Phenotype
N CFig. 13-1, Page 307
Flow of Genetic Information
DNA Structure5’
3’ 5’
3’
Fig. 1-8,Page 5
Fig. 13-7,Page 314
Possible Reading Frames for RNA
Fig. 13-7,Page 314
Normal Red Blood Cell
Sickle Cell AnemiaRed Blood Cell
ATG GTG CAC TTG ACC CCC GAG GAG
met - val - his - leu - thr - pro - glu - glu
5’ 3’
(N) (C)
HbA
Molecular Genetics of Sickle-Cell Anemia
HbA
ATG GTG CAC TTG ACC CCC GAG GAG
met - val - his - leu - thr - pro - glu - glu
5’ 3’
(N) (C)
ATG GTG CAC TTG ACC CCC GTG GAG
met - val - his - leu - thr - pro - val - glu
5’ 3’
(C)(N)
HbA
HbS
Molecular Genetics of Sickle-Cell Anemia
HbA
HbS
Pg. 350Fig. 350
Hemoglobin
Healthy Lung
Lung epithelialcells
Lung epithelialcells
Lung epithelialcells
Lung epithelialcells
Cystic Fibrosis Lung
Chloride Ion Channel gene and protein involved in Cystic Fibrosis
Missense mutation
Nonsense mutation
Frame-shift mutation
Deletion, in-frame
CFCTR Gene
Mutations
Healthy Lung
Lung epithelialcells
Lung epithelialcells
AAorAa
Lung epithelialcells
Lung epithelialcells
Cystic Fibrosis Lung
aa
Chromosome 7
1367 genes158 million bp of DNA
CFCTR Gene
Chromosome 7
1367 genes158 million bp of DNA
CFCTR GenotypeAA
A A
PhenotypeHealthy
Chromosome 7
1367 genes158 million bp of DNA
CFCTR GenotypeAa
A a
PhenotypeHealthy
Chromosome 7
1367 genes158 million bp of DNA
CFCTR Genotypeaa
a a
PhenotypeCystic Fibrosis
Huntington’s Disease
Cell from “Hh” individual
Huntingtin protein aggregates
Trinucleotide Repeat Diseases
Fig. 19-2Pg. 459
Restriction Enzymes
Chloride Ion Channel gene and protein involved in Cystic Fibrosis
Missense mutation
Nonsense mutation
Frame-shift mutation
Deletion, in-frame
CFCTR Gene
Mutations
Amniocentesis
Genetictesting 14-16 weeks
Fig. 22-8Pg. 555
Early Embryonic Development (~ 7 days)
8 cell Embryo from IVF
Remove onecell for genetic testing
Pre-Implantation Genetic Diagnosis
Genetic Testing for Sickle Cell Anemia
EmbryosMade by IVF
Parents
HbS
HbA
Fig. 22-9Pg. 556
Genetic Testing for Sickle Cell Anemia
EmbryosMade by IVF
Parents
Implant embyro #1
HbS
HbA
Fig. 22-9Pg. 556
Early Embryonic Development (~ 7 days)
Fig. 22-14Pg. 559
Microarray(“gene chip”)
Normal B-CellPurify mRNALabel mRNA with “green” dye
Diffuse Large B-Cell LymphomaPurify mRNALabel mRNA with “red” dye
Hybridize to Microarray
DLBCLIndividuals
Microarray Analysis of Diffuse Large B-Cell Lymphoma
Genes (~ 18,000)
Gene Therapy for Severe Combined Immunodeficiency
Fig. 22-10Pg. 561
“aa” individual
“aa” cells
Virus with “A” allele
“Aaa” cells
Cloned “A” allele
DNA Sequencing: How it works
Products separatedBy gel electrophoresis
Fig. 19-28Pg. 477
Fig. 20-1Pg. 486
“Raw” DNA sequence
Where are the genes?
Fig. 20-2Pg. 488
ORF scanning in all reading frames and both strands
ORFs are in brown
Fig. 13-7,Page 314
Pg. 494
Function of Human Genes
Fig. 20-13Pg. 497
Gene Gene GeneGene Gene
Genes comprise ~ 5% of genomeRepeated DNA comprises ~ 50% of genomeUnique (“junk”) DNA comprises the rest
Organization of Human Genome
Fig. 20-8Pg. 494
(~ 50 kbp)
Comparative Genomics
Pg. 499
Genome
Transcriptome
Proteome
All of the DNA of a cellMethods: DNA sequencing, computer analysis
All of the mRNA produced by a cell
Method: Microarray analysis (gene chips)
All of the proteins produced by a cell
Methods: 2-dimensional gel eletrophoresis
Eukaryotic Cell
Electron Micrograph of Mitochondrial DNA
Fig. 9-7Pg. 219
13 proteins encodedby human mitochondrialgenome
HeteroplasmyMutant
Normal
Interphase and M-Phase Chromosomes
Chromosome 7
1367 genes158 million bp of DNA
Histone Structure
Fig. 12-9
Interphase and M-Phase Chromosomes
Core Promoter
+1-25-80-120
Fig. 17-4
Leucine Zipper Transcription Factor
DNA Binding Domain
ActivationDomain
Fig. 17-16
Formation of the Pre-initiation Complex
Fig. 17-11
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