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.” Nature 2;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 th cent.) 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

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 AATG Homozygote = both alleles are the same length Heterozygote = alleles differ and can be resolved from one another

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

20. Branches and Twigs Haplogroups are 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

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. Autosomal = All Ancestral Alleles

34. Base Pairs Adenine Guanine Cytosine Thymine

35. Chromosomes

36. Recombinant DNA

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