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

Michael Hammer Family Tree DNA, Houston University of Arizona

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 (1970s-80s) 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) 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

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

PCR Polymerase Chain Reaction

Genomics Laboratory

Inheritance Chart

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)

Atlantic Modal Haplotype DYS DYS DYS DYS DYS DYS (also known as DYS19) If you have one mutation in either direction, then you are AMH The AMH 1.15 haplotype is also referred to as the Atlantic Modal Cluster or AMC. Generally puts you in haplogroup 1 (H1), 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 Surname Projects

Review 2 Chromosome Male vs. female PCR STR Haplogroup Haplotype

Mitochondrial DNA What is it Why is it useful Mutations Lineages

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

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, OmniPop DNA Fingerprint Test DNAPrint – biogeographical markers Inherited disease

Examples of Autosomal Tests DNA Fingerprint Test Eurasian1.0 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 mtDNA autosomal