Genetic Genealogy History and Prehistory and DNA Ancestry

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

A funny thing happened to me on the way to the synagogue Rabbi Yitzak Levy Rabbi Michael Lerner

Family Tree DNA, Houston University of Arizona r e m m a H l Michae

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.

Cohen Modal Haplotype

Surnames and Y Chromosome Bryan Sykes Oxford Ancestry

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

Rosalind Franklin “The Dark Lady of DNA”

Review 1 • • • George Darwin Double Helix DNA Where it all started Cohen Modal Haplotype Oxford Ancestors Family Tree DNA

DNA Testing Today • • Y Chromosome Mitochondrial DNA Autosomal Other

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

Buccal Swab

Short Tandem Repeats (STRs) AATG 7 repeats 8 repeats the repeat region is variable between samples while the flanking regions where PCR primers bind are constant Homozygote = both alleles are the same length Heterozygote = alleles differ and can be resolved from one another

ABI Prism 310 Genetic Analyzer capillary Syringe with polymer solution Injection electrode Outlet buffer Autosampler tray Inlet buffer

PCR Polymerase Chain Reaction

Genomics Laboratory

Inheritance Chart

Branches and Twigs Haplogroups are the descents or megafamilies that characterized early human migrations. They are normally associated with geographical regions. Examples: R 1 b (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)

Atlantic Modal Haplotype DYS 388 12 DYS 390 24 DYS 391 11 DYS 392 13 DYS 393 13 DYS 394 14 (also known as DYS 19) 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 (H 1), but not always.

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

Review 2 • • • Chromosome Male vs. female PCR STR Haplogroup Haplotype

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

Mitochondrial Haplogroups J I N A, B, C, D, X H K

Phylogeny

Review 3 • • • D loop HVR I and HVR 2 Cambridge Concordance Vincent Macaulay Phylogeny Haplogroup, haplotype

Autosomal DNA

Autosomal = All Ancestral Alleles

Base Pairs • Adenine • Guanine • Cytosine • Thymine

Chromosomes

Recombinant DNA

Uses of Autosomal Tests • Paternity – Gene Tree & Terry Carmichael • • • Relationship testing (siblings adopted) Police work – CODIS profiles, Omni. Pop DNA Fingerprint Test DNAPrint – biogeographical markers Inherited disease

Examples of Autosomal Tests • • • DNA Fingerprint Test Eurasian 1. 0 EURO DNA 2. 0 SNP testing Genetic screening Genome-wide genetic research

Review 4 • • Autosomal Recombination Allele Ancestry Informative Marker DNAPrint DNA Fingerprint Test Base pairs STRs

Questions and Discussion • • DNA Testing Y chromosome mt. DNA autosomal