Fig. 13-1, Page 307

N C

Fig. 13-1, Page 307

Gene Expression

Pg. 242

Deoxyribonucleotide

DNA Bases

Pg. 242

Pg. 242

Deoxyribonucleotide

A

DNA Strand

Pg. 244

DNA Structure5’

3’ 5’

3’

Fig. 1-8,Page 5

Base Pair Structures

Pg. 368

Pg. 242

Ribonucleotide

OH

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

OldOld

DNA Replication

Pg. 264

Template-dependent

Semi-conservative

Old OldNew New

Pg. 368

Thymine Base Pairing

Standard ATBase pair

Tautomeric ShiftBase pair

Standard Base PairsTautomeric ShiftBase Pairs

A T

G C

T G

G T

A C

C A

Rare tautomers are shown in Red

Tautomeric Shift of “A”

Pg. 369

DNA moleculewith TA CGtransition mutation

Affected base pair

“Spontaneous” Insertion/Deletion Mutations

Pg. 371

Ethylmethane Sulfonate Mutagenesis

Pg. 370

Intercalating Agents

Ethidium Bromide

Intercalation

Electromagnetic Spectrum

(XP Photosensitivity: 280 to 310 nm)UVC 100 - 290 nmUVB 290 - 320 nmUVA 320 - 380 nm

Visible Light 380 - 780 nmPg. 371

DNA damage induced by UV light

Fig. 15-9Pg. 372

Nucleotide Excision Repair (NER) Pathway

Sickle Cell Anemia Sickle Cell TraitNormal

Hemoglobin

ß-globin(146 amino acids)

ß-globin(146 amino acids)

Molecular Genetics of Sickle-Cell Anemia

HbA Allele

HbS Allele

Hb-A

Hb-S

Codon #6

Pg. 350

Hb-A Hb-S

HbAHbA HbSHbS HbAHbS

Hb-A

Mutant ß-globin Proteins

Chloride Ion Channel Gene and Protein Involved in Cystic Fibrosis

Missense mutation

Nonsense mutation

Frame-shift mutation

Deletion, in-frame

CFTR Gene

Mutations

Healthy Lung

Lung epithelialcells


AAorAa



Cystic Fibrosis Lung

aa

Huntington’s Disease

Cell from “Hh” individual

Huntingtin protein aggregates

Huntington’s Disease

Trinucleotide Repeat Diseases

Genetic Technologies

Genetic Testing

Gene Therapy

Genomics

“Carrier” Testing

Presymptomatic Testing

Pre-implantation Embryos (PGD)Prenatal (amniocentesis, CVS)NewbornsAdults

Genetic Testing

Molecular Genetics of Sickle-Cell Anemia

HbA Allele

HbS Allele

Hb-A

Hb-S

Codon #6

Genetic Testing for Sickle Cell Anemia

HbS

HbA

Fig. 22-9Pg. 556MstII cut sites

8 cell Embryo from IVF

Remove onecell for genetic testing

Pre-implantation Genetic Diagnosis (PGD)

Genetic Technologies

Genetic Testing

Gene Therapy

Genomics

Removal viral genes

Splice in therapeutic gene

Viral Vectors for Gene Therapy

Gene Therapy for Severe Combined Immunodeficiency

Fig. 22-10Pg. 561

“aa” individual

“aa” cells

Virus with “A” allele

“Aaa” cells

Cloned “A” allele

CF Gene Therapy

Adenovirus withWild Type CFTR Allele

Ganciclovir

Phosphorylated by Thymidine Kinase (TK) enzyme

Mitochondrial Genetics

Cell Biology of MitochondriaMitochondrial genomeDiseases linked to mitochondria

Eukaryotic Cell

Electron Micrograph of Mitochondrial DNA

Fig. 9-7Pg. 219

13 proteins encodedby human mitochondrialgenome

Diseases Linked to Mitochondrial Mutations

HeteroplasmyMutant Mitochondrion

Normal Mitochondrion

Cytogenetics

Chromosome structureChromosomal basis for genotypeKaryotypesMeioisisChromosome mutationsDosage compensation

M-Phase Chromosome

Interphase (G1, S, G2)Chromosomes

X Chromosome

Giemsa Stain

X Chromosome

155 Million base pairs (bp)1336 Genes

Euploid Human Karyotypes

Female Male

Fig. 7-6

Chromosomal Basis for Genotype

Chromosome 7

1367 genes

158 million bp of DNA

HomologousChromosome 7

P M

1367 genes

158 million bp of DNA


RNACFTRProtein

P M

WT CFTRAllele


RNA CFTRProtein

WT CFTRAllele


P M


LF CFTRAllele

LF CFTRAllele


P M


RNA CFTRProtein

WT CFTRAllele

LF CFTRAllele


RNACFTRProtein

P M

WT CFTRAllele


LF CFTRAllele

Down (Trisomy 21) Karyotype

Chromosome 21

47 million bp

352 Genes

Turner Syndrome Karyotype

Amniocentesis

Karotypeanalysis 14-16 weeks

Fig. 22-8Pg. 555

Chorionic Villus Sampling (CVS)

Karotypeanalysis

Fig. 22-8Pg. 555

10-12 weeks

Fig. 2-8

Gametes(haploid cells)

Pairing of Homologous Chromosomes

P

M

Fig. 2-13, 2-14

SynaptonemalComplex

Single Crossover (SCO)

Paternal

Maternal

PairedHomologousChromosomes

Fig. 2-8

Gametes(haploid cells)

Male Female

Fig. 2-11

Meiotic Nondisjunction

DisomicGametes

NullisomicGametes

Meiotic Nondisjunction

MonosomicGametes

NullisomicGametes

DisomicGametes

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 TC G G A T G C T A A




Reciprocal Translocation

Non-Reciprocal Translocation

Translocation in CML

Blood Cell Formation

21

14

14;21 Translocation

21

14;21

14

FamilialDown Syndrome

Karyotype of offspring

Cri-du-Chat Karyotype

Cancer Cell Karyotype

Fig. 13-1, Page 307

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