An Introduction to Genetic Genealogy, Human Prehistory and

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  • 1.Genetic Genealogy, History and Prehistory, and DNA Ancestry Tracing DNA and Your Health Seminar Presented by Donald N. Yates, Ph.D.

2. A funny thing happened to me on the way to the synagogue Rabbi Yitzak Levy Rabbi Michael Lerner 3. Michael Hammer Family Tree DNA, Houston University of Arizona 4.

          • Skorecki K, Selig S, Blazer S, Bradman R, Bradman N, Waburton PJ, Ismajlowicz M, Hammer MF (Jan. 1997).Y chromosomes of Jewish priests.Nature2;385(6611):32.

5. Cohen Modal Haplotype 6. Surnames and Y Chromosome

  • Bryan Sykes
  • Oxford Ancestry

7. Brief History of DNA Testing

  • Gregor Mendel (19 thcent.)
  • George Darwin and cousin marriage
  • James Watson & Francis Crick (double helix, 1953)
  • Biotechnology (1970s-80s)
  • Cavalli-Sforza
  • Human Genome Project
  • Cohen gene (1997)

8. Rosalind Franklin The Dark Lady of DNA 9. Review 1

  • George Darwin
  • Double Helix DNA
  • Where it all started
  • Cohen Modal Haplotype
  • Oxford Ancestors
  • Family Tree DNA

10. DNA Testing Today

  • Y Chromosome
  • Mitochondrial DNA
  • Autosomal
  • Other

11. Why Do a DNA Test?

  • Determine if two people are related
  • Determine if two people descend from the same ancestor
  • Find out if you are related to others with the same surname
  • Prove or disprove your family tree research
  • Go beyond brick wall in genealogy
  • Provide clues about your ethnic origin
  • To find out about genetic risk factors in health

12. Buccal Swab 13. 14. Short Tandem Repeats (STRs) the repeat region is variable between samples while the flanking regions where PCR primers bind are constant 7 repeats 8 repeats Homozygote = both alleles are the same length Heterozygote = alleles differ and can be resolved from one another AATG 15. ABI Prism 310 Genetic Analyzer capillary Syringe with polymer solution Autosampler tray Outlet buffer Injection electrode Inlet buffer 16. PCR

  • Polymerase
  • Chain
  • Reaction

17. Genomics Laboratory 18. Inheritance Chart 19. 20. Branches and Twigs Haplogroupsare the descents or mega-families that characterized early human migrations. They are normally associated with geographical regions. Examples:R1b (Western Atlantic European), I (northern Europe), J (Jewish, Middle Eastern).Haplotype One person's set of values for the markers that have been tested. Two individuals that match on all markers but one, have two distinct haplotypes. (One-step mutation) 21. Atlantic Modal Haplotype DYS388 12 DYS390 24 DYS391 11 DYS392 13 DYS393 13 DYS394 14 (also known as DYS19) If you have one mutation in either direction, then you are AMH 1.15+. The AMH 1.15 haplotype is also referred to as the Atlantic Modal Cluster or AMC. Generally 1.15+ puts you in haplogroup 1 (H1), but not always. 22. Y Chromosome

  • Males:XY
  • Females:XX
  • Father to Son
  • Follows Surname
  • Y STRs:Short Tandem Repeats
  • Mutation rate fast
  • YHRD, Ysearch
  • Non-paternity events
  • 12 . . . 24 . . . 37 . . . 63 . . . 98
  • Surname Projects

23. Review 2

  • Chromosome
  • Male vs. female
  • PCR
  • STR
  • Haplogroup
  • Haplotype

24. Mitochondrial DNA

  • What is it
  • Why is it useful
  • Mutations
  • Lineages

25. 26. 27. 28. 29. J N H I A, B, C, D, X K Mitochondrial Haplogroups 30. Phylogeny 31. Review 3

  • D loop
  • HVR I and HVR 2
  • Cambridge Concordance
  • Vincent Macaulay
  • Phylogeny
  • Haplogroup, haplotype

32. Autosomal DNA 33. A utosomal =A ll A ncestralA lleles 34. Base Pairs

  • Adenine
  • Guanine
  • Cytosine
  • Thymine

35. Chromosomes 36. Recombinant DNA 37. 38. Uses of Autosomal Tests

  • Paternity
    • Gene Tree & Terry Carmichael
  • Relationship testing (siblings adopted)
  • Police work CODIS profiles, OmniPop
  • DNA Fingerprint Test
  • DNAPrint biogeographical markers
  • Inherited disease

39. Examples of Autosomal Tests

  • DNA Fingerprint Test
  • Eurasian1.0
  • EURO DNA 2.0
  • SNP testing
  • Genetic screening
  • Genome-wide genetic research

40. Review 4

  • Autosomal
  • Recombination
  • Allele
  • Ancestry Informative Marker
  • DNAPrint
  • DNA Fingerprint Test
  • Base pairs
  • STRs

41. Questions and Discussion

  • DNA Testing
  • Y chromosome
  • mtDNA
  • autosomal