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Transcript of Fig. 13-1, Page 307
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N C
Fig. 13-1, Page 307
Gene Expression
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Pg. 242
Deoxyribonucleotide
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DNA Bases
Pg. 242
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Pg. 242
Deoxyribonucleotide
A
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DNA Strand
Pg. 244
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DNA Structure5’
3’ 5’
3’
Fig. 1-8,Page 5
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Base Pair Structures
Pg. 368
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Pg. 242
Ribonucleotide
OH
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RNA Bases
Pg. 242
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Fig. 13-7,Page 314
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Possible Reading Frames for RNA
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Fig. 13-7,Page 314
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Mutation (Chapt. 15)
Classification of mutations
Mechanisms of mutagenesis
DNA repair pathways
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OldOld
DNA Replication
Pg. 264
Template-dependent
Semi-conservative
Old OldNew New
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Pg. 368
Thymine Base Pairing
Standard ATBase pair
Tautomeric ShiftBase pair
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Standard Base PairsTautomeric ShiftBase Pairs
A T
G C
T G
G T
A C
C A
Rare tautomers are shown in Red
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Tautomeric Shift of “A”
Pg. 369
DNA moleculewith TA CGtransition mutation
Affected base pair
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“Spontaneous” Insertion/Deletion Mutations
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Pg. 371
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Ethylmethane Sulfonate Mutagenesis
Pg. 370
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Intercalating Agents
Ethidium Bromide
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Intercalation
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Electromagnetic Spectrum
(XP Photosensitivity: 280 to 310 nm)UVC 100 - 290 nmUVB 290 - 320 nmUVA 320 - 380 nm
Visible Light 380 - 780 nmPg. 371
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DNA damage induced by UV light
Fig. 15-9Pg. 372
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Nucleotide Excision Repair (NER) Pathway
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Sickle Cell Anemia Sickle Cell TraitNormal
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Hemoglobin
ß-globin(146 amino acids)
ß-globin(146 amino acids)
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Molecular Genetics of Sickle-Cell Anemia
HbA Allele
HbS Allele
Hb-A
Hb-S
Codon #6
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Pg. 350
Hb-A Hb-S
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HbAHbA HbSHbS HbAHbS
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Hb-A
Mutant ß-globin Proteins
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Chloride Ion Channel Gene and Protein Involved in Cystic Fibrosis
Missense mutation
Nonsense mutation
Frame-shift mutation
Deletion, in-frame
CFTR Gene
Mutations
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Healthy Lung
Lung epithelialcells
Lung epithelialcells
AAorAa
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Lung epithelialcells
Lung epithelialcells
Cystic Fibrosis Lung
aa
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Huntington’s Disease
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Cell from “Hh” individual
Huntingtin protein aggregates
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Huntington’s Disease
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Trinucleotide Repeat Diseases
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Genetic Technologies
Genetic Testing
Gene Therapy
Genomics
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“Carrier” Testing
Presymptomatic Testing
Pre-implantation Embryos (PGD)Prenatal (amniocentesis, CVS)NewbornsAdults
Genetic Testing
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Molecular Genetics of Sickle-Cell Anemia
HbA Allele
HbS Allele
Hb-A
Hb-S
Codon #6
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Genetic Testing for Sickle Cell Anemia
HbS
HbA
Fig. 22-9Pg. 556MstII cut sites
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8 cell Embryo from IVF
Remove onecell for genetic testing
Pre-implantation Genetic Diagnosis (PGD)
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Genetic Technologies
Genetic Testing
Gene Therapy
Genomics
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Removal viral genes
Splice in therapeutic gene
Viral Vectors for Gene Therapy
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Gene Therapy for Severe Combined Immunodeficiency
Fig. 22-10Pg. 561
“aa” individual
“aa” cells
Virus with “A” allele
“Aaa” cells
Cloned “A” allele
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CF Gene Therapy
Adenovirus withWild Type CFTR Allele
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Ganciclovir
Phosphorylated by Thymidine Kinase (TK) enzyme
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Mitochondrial Genetics
Cell Biology of MitochondriaMitochondrial genomeDiseases linked to mitochondria
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Eukaryotic Cell
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Electron Micrograph of Mitochondrial DNA
Fig. 9-7Pg. 219
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13 proteins encodedby human mitochondrialgenome
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Diseases Linked to Mitochondrial Mutations
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HeteroplasmyMutant Mitochondrion
Normal Mitochondrion
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Cytogenetics
Chromosome structureChromosomal basis for genotypeKaryotypesMeioisisChromosome mutationsDosage compensation
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M-Phase Chromosome
Interphase (G1, S, G2)Chromosomes
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X Chromosome
Giemsa Stain
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X Chromosome
155 Million base pairs (bp)1336 Genes
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Euploid Human Karyotypes
Female Male
Fig. 7-6
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Chromosomal Basis for Genotype
Chromosome 7
1367 genes
158 million bp of DNA
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HomologousChromosome 7
P M
1367 genes
158 million bp of DNA
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HomologousChromosome 7
RNACFTRProtein
P M
WT CFTRAllele
Chromosomal Basis for Genotype
RNA CFTRProtein
WT CFTRAllele
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HomologousChromosome 7
P M
Chromosomal Basis for Genotype
LF CFTRAllele
LF CFTRAllele
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HomologousChromosome 7
P M
Chromosomal Basis for Genotype
RNA CFTRProtein
WT CFTRAllele
LF CFTRAllele
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HomologousChromosome 7
RNACFTRProtein
P M
WT CFTRAllele
Chromosomal Basis for Genotype
LF CFTRAllele
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Down (Trisomy 21) Karyotype
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Chromosome 21
47 million bp
352 Genes
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Turner Syndrome Karyotype
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Amniocentesis
Karotypeanalysis 14-16 weeks
Fig. 22-8Pg. 555
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Chorionic Villus Sampling (CVS)
Karotypeanalysis
Fig. 22-8Pg. 555
10-12 weeks
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Fig. 2-8
Gametes(haploid cells)
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Pairing of Homologous Chromosomes
P
M
Fig. 2-13, 2-14
SynaptonemalComplex
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Single Crossover (SCO)
Paternal
Maternal
PairedHomologousChromosomes
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Fig. 2-8
Gametes(haploid cells)
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Male Female
Fig. 2-11
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Meiotic Nondisjunction
DisomicGametes
NullisomicGametes
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Meiotic Nondisjunction
MonosomicGametes
NullisomicGametes
DisomicGametes
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X Chromosome (1336 Genes)
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X Chromosome (1336 Genes)
Female Male
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X Chromosome Inactivation
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Inactive X Chromosome (“Barr Body”)
Fig. 7-9
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Anhidrotic Ectodermal Dysplasia
Fig. 7-12
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G C C T A C G A T TC G G A T G C T A A
G C C T A C G A T TC G G A T G C T A A
G C C T A C G A T TC G G A T G C T A A
G C C T A C G A T TC G G A T G C T A A
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Reciprocal Translocation
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Non-Reciprocal Translocation
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Translocation in CML
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Blood Cell Formation
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21
14
14;21 Translocation
21
14;21
14
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FamilialDown Syndrome
Karyotype of offspring
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Cri-du-Chat Karyotype
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Cancer Cell Karyotype