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Organization of Genetics Course Molecular Genetics Cytogenetics Transmission Genetics

Organization of Genetics Course Molecular Genetics Cytogenetics Transmission Genetics Population Genetics. Molecular Genetics. Identification of DNA as the genetic material Structure of DNA Function of Genes Gene (DNA) RNA PROTEIN Gene Regulation

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Organization of Genetics Course Molecular Genetics Cytogenetics Transmission Genetics

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  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 p2 + pq + q2 = 1

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

  8. Hemoglobin

  9. Allele (DNA) RNA Protein Genotype/Phenotype

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

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

  12. Fig. 13-7,Page 314

  13. Possible Reading Frames for RNA

  14. Fig. 13-7,Page 314

  15. Normal Red Blood Cell Sickle Cell Anemia Red Blood Cell

  16. 5’ ATG GTG CAC TTG ACC CCC GAG GAG 3’ met - val - his - leu - thr - pro - glu - glu (C) (N) Molecular Genetics of Sickle-Cell Anemia HbA HbA

  17. 5’ ATG GTG CAC TTG ACC CCC GAG GAG 3’ met - val - his - leu - thr - pro - glu - glu (C) (N) 3’ 5’ ATG GTG CAC TTG ACC CCC GTG GAG met - val - his - leu - thr - pro - val - glu (N) (C) Molecular Genetics of Sickle-Cell Anemia HbA HbA HbS HbS

  18. Fig. 350 Pg. 350

  19. Hemoglobin

  20. Lung epithelial cells Lung epithelial cells Healthy Lung

  21. Lung epithelial cells Lung epithelial cells Cystic Fibrosis Lung

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

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

  24. Lung epithelial cells Lung epithelial cells Cystic Fibrosis Lung aa

  25. 158 million bp of DNA 1367 genes Chromosome 7 CFCTR Gene

  26. 158 million bp of DNA 1367 genes CFCTR Genotype AA Phenotype Healthy Chromosome 7 A A

  27. 158 million bp of DNA 1367 genes CFCTR Genotype Aa Phenotype Healthy Chromosome 7 A a

  28. 158 million bp of DNA 1367 genes CFCTR Genotype aa Chromosome 7 Phenotype Cystic Fibrosis a a

  29. Huntington’s Disease

  30. Huntingtin protein aggregates Cell from “Hh” individual

  31. Trinucleotide Repeat Diseases

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

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

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

  35. Early Embryonic Development (~ 7 days)

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

  37. Genetic Testing for Sickle Cell Anemia Parents Embryos Made by IVF HbS HbA Fig. 22-9 Pg. 556

  38. Genetic Testing for Sickle Cell Anemia Parents Embryos Made by IVF HbS HbA Implant embyro #1 Fig. 22-9 Pg. 556

  39. Early Embryonic Development (~ 7 days)

  40. Fig. 22-14 Pg. 559

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

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

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

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

  45. Fig. 20-1 Pg. 486

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

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

  48. Fig. 13-7,Page 314

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