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Disease Linkages and the Seven Daughters of Eve

Disease Linkages and the Seven Daughters of Eve. “DNA and Your Health” Presentation by Donald N. Yates, Ph.D. Mitochondrial Eve. Deoxyribonucleic Acid. Cellular Level. Heterozygous disease. Sickle cell anemia and resistance to malaria Longevity and Alzheimer’s --?

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Disease Linkages and the Seven Daughters of Eve

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  1. Disease Linkages and the Seven Daughters of Eve “DNA and Your Health” Presentation by Donald N. Yates, Ph.D.

  2. Mitochondrial Eve

  3. Deoxyribonucleic Acid

  4. Cellular Level

  5. Heterozygous disease • Sickle cell anemia and resistance to malaria • Longevity and Alzheimer’s --? • Autosomal dominant – only need one copy of gene (one parent will have full-blown disease, e.g. Huntington’s disease) • Autosomal recessive – need two copies of the disease

  6. Replication – DNA copying itself

  7. Types of Mutation

  8. Spontaneous Mutation

  9. Mitochondrial Eve

  10. Mitosis and Meiosis

  11. Review 1 • When did mitochondrial Eve live • What are mitochondria • Why does it allow tracing of lineages? • Difference between mitochondrial and autosomal disease • Difference between dominant and recessive

  12. Before the Dawn • Before even prehistory • Homo sapiens sapiens was not alone • Homo erectus • Neanderthals • Homo florensiensis • Evolutionary theory • Nicolas Wade book

  13. Human Migrations in Prehistory

  14. Indo-Europeans

  15. After the Last Ice Age - Males

  16. Daughters of Eve in Europe • Helena: 48% • Ursula: 19% • Jasmine: 10% • Tara: 8% • Katrina: 6% • Velda: 5% • Xenia: 2%

  17. Male Haplogroups

  18. Celts Key to Settlement of Europe

  19. Neolithic Revolution

  20. BantuExpansion

  21. Barbarian Movements

  22. Jewish Ethnic Divisions • Sephardic • Ashkenazi • Khazars • Mizrahim • Romaniote • Kaifeng

  23. Conquests of Islam (to 750)

  24. Diaspora of Sephardic Jews after 1492

  25. The Great Migration • 1500-1789: Colonial Period • 1650-1790: 15 million Africans • 1789-1870: Western European • 1830-1850: Indians put on Western res. • 1870-1924: Eastern European • Since 1910: 7 million blacks to North • Since 1949: Jews to Israel • Hispanics in U.S., Arabs in Europe

  26. Review 2 • Human peopling of the world • Indo-Europeans, Celts, agriculturalists • Barbarians • The Great Migration • Africans • Native Americans

  27. Jewish Diseases • Tay-Sachs Disease • Familial Mediterranean Fever • Bloom’s Syndrome • Gaucher Disease • Machado Joseph Disease • Breast and Ovarian Cancer • Anemias • LHON

  28. Types of Testing • Newborn • Diagnostic • Carrier • Predictive, presymptomatic • Forensic

  29. Genetic Health Risks • Alcohol Flush Reaction • Age-related Macular Degeneration • Bitter Taste Perception • Non-ABO Blood Groups • Breast Cancer • Celiac Disease • Colorectal Cancer • Crohn's Disease

  30. Genetic Health Risks - 2 • Earwax Type • Eye Color • G6PD Deficiency • Heart Attack • Resistance to HIV/AIDS • Lactose Intolerance • Lung Cancer • Lupus (Systemic Lupus Erythematosus) • Malaria Resistance (Duffy Antigen) • Multiple Sclerosis

  31. Genetic Health Risks - 3 • Muscle Performance • Norovirus Resistance • Obesity • Prostate Cancer • Psoriasis • Restless Legs Syndrome • Rheumatoid Arthritis • Sickle Cell Anemia & Malaria Resistance • Type 1 Diabetes • Type 2 Diabetes • Venous Thromboembolism

  32. Review 3 • Types of testing, screening • Types of genetic diseases • Examples of risk factors you can screen for

  33. Male and Female Lines

  34. Alleles – basic units of variation

  35. Why siblings can be so different

  36. CODIS MARKERS

  37. History of DNA Fingerprinting • 1985 PCR • 1988 FBI starts DNA casework • 1991 First paper reporting Y-STRs • 1998 FBI launches CODIS database • 2005 OmniPop population database • 2006 DNA Testing introduces DNA Fingerprint Test

  38. Uses of CODIS Profiles • Forensic cases -- matching suspect with evidence • Paternity testing -- identifying father • Historical investigations • Missing persons investigations • Mass disasters -- putting pieces back together • Military DNA “dog tag” • Convicted felon DNA databases

  39. DNA Fingerprint Test • Melungeons • Basis is CODIS-15 • OmniPop 360 • ENFSI • All customized and personalized Beth Hirschman

  40. CODIS scores in report

  41. Analysis and Conclusion

  42. World Ancestry Map of John Doe

  43. Certificate of Testing

  44. Linkage Disequilibrium for Mitochondrial Haplotypes • Helena is prone to developing Alzheimer’s • Jasmine is susceptible to passing all the Jewish diseases • Ursulas often have occipital strokes in old age

  45. Other Linkages • Lactose intolerance: Jews, Mediterranean lineages, Asians • Graves’ Disease in Chinese Han • Sickle cell anemia: Africans and African Americans • Athletic gene: long-distance runners versus sprinters • “Intelligence gene”

  46. Ongoing Genome-Wide Linkage Research • Diabetes • Rheumatoid arthritis • Coronary heart disease • Prostate cancer

  47. Review 4 • CODIS markers • Alleles • DNA Fingerprint Test • OmniPop • ENFSI • Melungeons • Linkage disequilibrium

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