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