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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
CytogeneticsMeiosisChromosome Theory of InheritanceKaryotypesIdentification of Chromosome Abnormalities
Transmission GeneticsMendelian Principles
Alleles, Dominant/RecessiveGenotype Determines Phenotype
Extensions to Mendelian Principles
Multiple allelesLethal allelesAdditive allelesCo-dominancePartial dominanceEpistasisLinkage and Genetic Mapping
Population Genetics
Mendelian and Molecular Genetics of Populations
Frequency of alleles (e.g., “disease” alleles)How allele frequency changes over timeDNA Fingerprinting
p2 + pq + q2 = 1
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
Chloride Ion Channel gene and protein involved in Cystic Fibrosis
Missense mutation
Nonsense mutation
Frame-shift mutation
Deletion, in-frame
CFCTR Gene
Mutations
Chloride Ion Channel gene and protein involved in Cystic Fibrosis
Missense mutation
Nonsense mutation
Frame-shift mutation
Deletion, in-frame
CFCTR Gene
Mutations
Genetic Testing for Sickle Cell Anemia
EmbryosMade by IVF
Parents
Implant embyro #1
HbS
HbA
Fig. 22-9Pg. 556
Microarray(“gene chip”)
Normal B-CellPurify mRNALabel mRNA with “green” dye
Diffuse Large B-Cell LymphomaPurify mRNALabel mRNA with “red” dye
Hybridize to Microarray
Gene Therapy for Severe Combined Immunodeficiency
Fig. 22-10Pg. 561
“aa” individual
“aa” cells
Virus with “A” allele
“Aaa” cells
Cloned “A” allele
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)
Genome
Transcriptome
Proteome
All of the DNA of a cell
Methods: 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
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