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N C Fig. 13-1, Page 307 Gene Expression. Pg. 242 Deoxyribonucleotide.

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Presentation on theme: "N C Fig. 13-1, Page 307 Gene Expression. Pg. 242 Deoxyribonucleotide."— Presentation transcript:

1 N C Fig. 13-1, Page 307 Gene Expression

2 Pg. 242 Deoxyribonucleotide

3 DNA Bases Pg. 242

4 Deoxyribonucleotide A

5 DNA Strand Pg. 244

6 DNA Structure 5’ 3’ 5’ 3’ Fig. 1-8,Page 5

7 Base Pair Structures Pg. 368

8 Pg. 242 Ribonucleotide OH

9 RNA Bases Pg. 242

10

11

12 Fig. 13-7,Page 314

13 Possible Reading Frames for RNA

14 Fig. 13-7,Page 314

15 Mutation (Chapt. 15) Classification of mutations Mechanisms of mutagenesis DNA repair pathways

16 Old DNA Replication Pg. 264 Template-dependent Semi-conservative Old New

17 Pg. 368 Thymine Base Pairing Standard AT Base pair Tautomeric Shift Base pair

18 Standard Base Pairs Tautomeric Shift Base Pairs AT G C T G G T AC CA Rare tautomers are shown in Red

19 Tautomeric Shift of “A” Pg. 369 DNA molecule with TA CG transition mutation Affected base pair

20 “Spontaneous” Insertion/Deletion Mutations

21 Pg. 371

22 Ethylmethane Sulfonate Mutagenesis Pg. 370

23 Intercalating Agents Ethidium Bromide

24 Intercalation

25

26 Electromagnetic Spectrum (XP Photosensitivity: 280 to 310 nm) Pg. 371

27 DNA damage induced by UV light Fig. 15-9 Pg. 372

28 Nucleotide Excision Repair (NER) Pathway

29 Sickle Cell Anemia Sickle Cell Trait Normal

30 Hemoglobin ß-globin (146 amino acids) ß-globin (146 amino acids)

31 Molecular Genetics of Sickle-Cell Anemia Hb A Allele Hb S Allele Hb-A Hb-S Codon #6

32 Pg. 350 Hb-AHb-S

33 Hb A Hb S Hb A Hb S

34 Hb-A Mutant ß-globin Proteins

35 Chloride Ion Channel Gene and Protein Involved in Cystic Fibrosis Missense mutation Nonsense mutation Frame-shift mutation Deletion, in-frame CFTR Gene Mutations

36 Healthy Lung Lung epithelial cells Lung epithelial cells AA or Aa

37 Lung epithelial cells Lung epithelial cells Cystic Fibrosis Lung aa

38 Huntington’s Disease

39 Cell from “Hh” individual Huntingtin protein aggregates

40 Huntington’s Disease

41 Trinucleotide Repeat Diseases

42 Genetic Technologies Genetic Testing Gene Therapy Genomics

43 “Carrier” Testing Presymptomatic Testing Pre-implantation Embryos (PGD) Prenatal (amniocentesis, CVS) Newborns Adults Genetic Testing

44 Molecular Genetics of Sickle-Cell Anemia Hb A Allele Hb S Allele Hb-A Hb-S Codon #6

45 Genetic Testing for Sickle Cell Anemia Hb S Hb A Fig. 22-9 Pg. 556 MstII cut sites

46 8 cell Embryo from IVF Remove one cell for genetic testing Pre-implantation Genetic Diagnosis (PGD)

47 Genetic Technologies Genetic Testing Gene Therapy Genomics

48 Removal viral genes Splice in therapeutic gene Viral Vectors for Gene Therapy

49 Gene Therapy for Severe Combined Immunodeficiency Fig. 22-10 Pg. 561 “aa” individual “aa” cells Virus with “A” allele “Aaa” cells Cloned “A” allele

50 CF Gene Therapy Adenovirus with Wild Type CFTR Allele

51 Ganciclovir Phosphorylated by Thymidine Kinase (TK) enzyme

52 Mitochondrial Genetics Cell Biology of Mitochondria Mitochondrial genome Diseases linked to mitochondria

53 Eukaryotic Cell

54 Electron Micrograph of Mitochondrial DNA Fig. 9-7 Pg. 219

55

56 13 proteins encoded by human mitochondrial genome

57 Diseases Linked to Mitochondrial Mutations

58 Heteroplasmy Mutant Mitochondrion Normal Mitochondrion

59 Cytogenetics Chromosome structure Chromosomal basis for genotype Karyotypes Meioisis Chromosome mutations Dosage compensation

60

61 M-Phase Chromosome Interphase (G1, S, G2) Chromosomes

62 X Chromosome Giemsa Stain

63 X Chromosome 155 Million base pairs (bp) 1336 Genes

64 Euploid Human Karyotypes FemaleMale Fig. 7-6

65 Chromosomal Basis for Genotype Chromosome 7 1367 genes 158 million bp of DNA

66 Homologous Chromosome 7 PM 1367 genes 158 million bp of DNA

67 Homologous Chromosome 7 RNA CFTR Protein PM WT CFTR Allele Chromosomal Basis for Genotype RNA CFTR Protein WT CFTR Allele

68 Homologous Chromosome 7 PM Chromosomal Basis for Genotype LF CFTR Allele LF CFTR Allele

69 Homologous Chromosome 7 PM Chromosomal Basis for Genotype RNA CFTR Protein WT CFTR Allele LF CFTR Allele

70 Homologous Chromosome 7 RNA CFTR Protein PM WT CFTR Allele Chromosomal Basis for Genotype LF CFTR Allele

71 Down (Trisomy 21) Karyotype

72 Chromosome 21 47 million bp 352 Genes

73

74 Turner Syndrome Karyotype

75 Amniocentesis Karotype analysis 14-16 weeks Fig. 22-8 Pg. 555

76 Chorionic Villus Sampling (CVS) Karotype analysis Fig. 22-8 Pg. 555 10-12 weeks

77 Fig. 2-8 Gametes (haploid cells)

78 Pairing of Homologous Chromosomes P M Fig. 2-13, 2-14 Synaptonemal Complex

79 Single Crossover (SCO) Paternal Maternal Paired Homologous Chromosomes

80 Fig. 2-8 Gametes (haploid cells)

81 Male Female Fig. 2-11

82 Meiotic Nondisjunction Disomic Gametes Nullisomic Gametes

83 Meiotic Nondisjunction Monosomic Gametes Nullisomic Gametes Disomic Gametes

84 X Chromosome (1336 Genes)

85 FemaleMale

86 X Chromosome Inactivation

87 Inactive X Chromosome (“Barr Body”) Fig. 7-9

88 Anhidrotic Ectodermal Dysplasia Fig. 7-12

89

90 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

91 Reciprocal Translocation

92 Non-Reciprocal Translocation

93 Translocation in CML

94 Blood Cell Formation

95 21 14 14;21 Translocation 21 14;21 14

96 Familial Down Syndrome Karyotype of offspring

97 Cri-du-Chat Karyotype

98 Cancer Cell Karyotype


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