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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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Deoxyribonucleotide A
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DNA Strand Pg. 244
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DNA Structure 5’ 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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Old DNA Replication Pg. 264 Template-dependent Semi-conservative Old New
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Pg. 368 Thymine Base Pairing Standard AT Base pair Tautomeric Shift Base pair
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Standard Base Pairs Tautomeric Shift Base Pairs AT G C T G G T AC CA Rare tautomers are shown in Red
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Tautomeric Shift of “A” Pg. 369 DNA molecule with TA CG transition 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) Pg. 371
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DNA damage induced by UV light Fig. 15-9 Pg. 372
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Nucleotide Excision Repair (NER) Pathway
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Sickle Cell Anemia Sickle Cell Trait Normal
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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 Hb A Allele Hb S Allele Hb-A Hb-S Codon #6
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Pg. 350 Hb-AHb-S
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Hb A Hb S Hb A Hb S
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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 epithelial cells Lung epithelial cells AA or Aa
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Lung epithelial cells Lung epithelial cells 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) Newborns Adults Genetic Testing
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Molecular Genetics of Sickle-Cell Anemia Hb A Allele Hb S Allele Hb-A Hb-S Codon #6
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Genetic Testing for Sickle Cell Anemia Hb S Hb A Fig. 22-9 Pg. 556 MstII cut sites
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8 cell Embryo from IVF Remove one cell 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. 22-10 Pg. 561 “aa” individual “aa” cells Virus with “A” allele “Aaa” cells Cloned “A” allele
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CF Gene Therapy Adenovirus with Wild Type CFTR Allele
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Ganciclovir Phosphorylated by Thymidine Kinase (TK) enzyme
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Mitochondrial Genetics Cell Biology of Mitochondria Mitochondrial genome Diseases linked to mitochondria
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Eukaryotic Cell
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Electron Micrograph of Mitochondrial DNA Fig. 9-7 Pg. 219
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13 proteins encoded by human mitochondrial genome
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Diseases Linked to Mitochondrial Mutations
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Heteroplasmy Mutant Mitochondrion Normal Mitochondrion
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Cytogenetics Chromosome structure Chromosomal basis for genotype Karyotypes Meioisis Chromosome mutations Dosage 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 FemaleMale Fig. 7-6
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Chromosomal Basis for Genotype Chromosome 7 1367 genes 158 million bp of DNA
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Homologous Chromosome 7 PM 1367 genes 158 million bp of DNA
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Homologous Chromosome 7 RNA CFTR Protein PM WT CFTR Allele Chromosomal Basis for Genotype RNA CFTR Protein WT CFTR Allele
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Homologous Chromosome 7 PM Chromosomal Basis for Genotype LF CFTR Allele LF CFTR Allele
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Homologous Chromosome 7 PM Chromosomal Basis for Genotype RNA CFTR Protein WT CFTR Allele LF CFTR Allele
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Homologous Chromosome 7 RNA CFTR Protein PM WT CFTR Allele Chromosomal Basis for Genotype LF CFTR Allele
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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 Karotype analysis 14-16 weeks Fig. 22-8 Pg. 555
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Chorionic Villus Sampling (CVS) Karotype analysis Fig. 22-8 Pg. 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 Synaptonemal Complex
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Single Crossover (SCO) Paternal Maternal Paired Homologous Chromosomes
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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 Disomic Gametes Nullisomic Gametes
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Meiotic Nondisjunction Monosomic Gametes Nullisomic Gametes Disomic Gametes
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X Chromosome (1336 Genes)
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FemaleMale
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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 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
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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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Familial Down Syndrome Karyotype of offspring
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Cri-du-Chat Karyotype
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Cancer Cell Karyotype
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