1. Organization of Genetics Course Molecular Genetics Cytogenetics Transmission Genetics Population Genetics

2. Molecular Genetics Identification of DNA as the genetic material Structure of DNA Function of Genes Gene (DNA) RNA PROTEIN Gene Regulation Mutation and Genetic Variation (origin of alleles) Linking diseases to specific alleles Genetic Technologies Genetic testing Gene Therapy

3. Genomics Identification, sequencing and mapping of all human genes Evolution of the human genome

4. Cytogenetics Meiosis Chromosome Theory of Inheritance Karyotypes Identification of Chromosome Abnormalities

5. Transmission Genetics Mendelian Principles Alleles, Dominant/Recessive Genotype Determines Phenotype Extensions to Mendelian Principles Multiple alleles Lethal alleles Additive alleles Co-dominance Partial dominance Epistasis Linkage and Genetic Mapping

6. Population Genetics Mendelian and Molecular Genetics of Populations Frequency of alleles (e.g., “disease” alleles) How allele frequency changes over time DNA Fingerprinting p 2 + pq + q 2 = 1

7. Normal Red Blood Cell Sickle Cell Anemia Red Blood Cell

8. Hemoglobin

9. Allele (DNA) RNA Protein Genotype/Phenotype

10. N C Fig. 13-1, Page 307 Flow of Genetic Information

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

13. Fig. 13-7,Page 314

14. Possible Reading Frames for RNA

15. Fig. 13-7,Page 314

17. Normal Red Blood Cell Sickle Cell Anemia Red Blood Cell

18. ATG GTG CAC TTG ACC CCC GAG GAG met - val - his - leu - thr - pro - glu - glu 5’ 3’ (N) (C) Hb A Molecular Genetics of Sickle-Cell Anemia HbA

19. ATG GTG CAC TTG ACC CCC GAG GAG met - val - his - leu - thr - pro - glu - glu 5’ 3’ (N) (C) ATG GTG CAC TTG ACC CCC GTG GAG met - val - his - leu - thr - pro - val - glu 5’ 3’ (C)(N) Hb A Hb S Molecular Genetics of Sickle-Cell Anemia HbA HbS

20. Pg. 350 Fig. 350

21. Hemoglobin

22. Healthy Lung Lung epithelial cells Lung epithelial cells

23. Lung epithelial cells Lung epithelial cells Cystic Fibrosis Lung

24. Chloride Ion Channel gene and protein involved in Cystic Fibrosis Missense mutation Nonsense mutation Frame-shift mutation Deletion, in-frame CFCTR Gene Mutations

25. Healthy Lung Lung epithelial cells Lung epithelial cells AA or Aa

26. Lung epithelial cells Lung epithelial cells Cystic Fibrosis Lung aa

27. Chromosome 7 1367 genes 158 million bp of DNA CFCTR Gene

28. Chromosome 7 1367 genes 158 million bp of DNA CFCTR Genotype AA A A Phenotype Healthy

29. Chromosome 7 1367 genes 158 million bp of DNA CFCTR Genotype Aa A a Phenotype Healthy

30. Chromosome 7 1367 genes 158 million bp of DNA CFCTR Genotype aa a a Phenotype Cystic Fibrosis

31. Huntington’s Disease

32. Cell from “Hh” individual Huntingtin protein aggregates

33. Trinucleotide Repeat Diseases

34. Fig. 19-2 Pg. 459 Restriction Enzymes

35. Chloride Ion Channel gene and protein involved in Cystic Fibrosis Missense mutation Nonsense mutation Frame-shift mutation Deletion, in-frame CFCTR Gene Mutations

36. Amniocentesis Genetic testing 14-16 weeks Fig. 22-8 Pg. 555

37. Early Embryonic Development (~ 7 days)

38. 8 cell Embryo from IVF Remove one cell for genetic testing Pre-Implantation Genetic Diagnosis

39. Genetic Testing for Sickle Cell Anemia Embryos Made by IVF Parents Hb S Hb A Fig. 22-9 Pg. 556

40. Genetic Testing for Sickle Cell Anemia Embryos Made by IVF Parents Implant embyro #1 Hb S Hb A Fig. 22-9 Pg. 556

41. Early Embryonic Development (~ 7 days)

42. Fig. 22-14 Pg. 559

43. Microarray (“gene chip”) Normal B-Cell Purify mRNA Label mRNA with “green” dye Diffuse Large B-Cell Lymphoma Purify mRNA Label mRNA with “red” dye Hybridize to Microarray

44. DLBCL Individuals Microarray Analysis of Diffuse Large B-Cell Lymphoma Genes (~ 18,000)

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

46. DNA Sequencing: How it works Products separated By gel electrophoresis Fig. 19-28 Pg. 477

47. Fig. 20-1 Pg. 486

48. “Raw” DNA sequence Where are the genes?

49. Fig. 20-2 Pg. 488 ORF scanning in all reading frames and both strands ORFs are in brown

50. Fig. 13-7,Page 314

51. Pg. 494

52. Function of Human Genes Fig. 20-13 Pg. 497

53. Gene Genes comprise ~ 5% of genome Repeated DNA comprises ~ 50% of genome Unique (“junk”) DNA comprises the rest Organization of Human Genome Fig. 20-8 Pg. 494 (~ 50 kbp)

54. Comparative Genomics Pg. 499

55. Genome Transcriptome Proteome All of the DNA of a cell Methods: DNA sequencing, computer analysis All of the mRNA produced by a cell Method: Microarray analysis (gene chips) All of the proteins produced by a cell Methods: 2-dimensional gel eletrophoresis

56. Eukaryotic Cell

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

59. 13 proteins encoded by human mitochondrial genome

60. Heteroplasmy Mutant Normal

61. Interphase and M-Phase Chromosomes

62. Chromosome 7 1367 genes 158 million bp of DNA

64. Histone Structure

65. Fig. 12-9

66. Interphase and M-Phase Chromosomes

67. Core Promoter +1-25-80-120 Fig. 17-4

69. Leucine Zipper Transcription Factor DNA Binding Domain Activation Domain Fig. 17-16

70. Formation of the Pre-initiation Complex Fig. 17-11