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 LevyRabbi Yitzak Levy Rabbi Michael LernerRabbi Michael Lerner

Michael HammerMichael 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 (19th 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 Rosalind FranklinFranklin

“The Dark Lady “The Dark Lady of DNA”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

PCRPCRPolymerase

Chain

Reaction

Genomics Laboratory

M8 + F8 M9 + F9 MA + FA MB + FB MC + FC MD + FD ME + FE MF + FF I I I I I I I I M4 …. + …. F4 M5 …. + …. F5 M6 …. + …. F6 M7 …. + …. F7 I I I I M2 …. …. …. + …. …. …. F2 M3 …. …. …. + …. …. …. F3 GrandFather I I GrandMother I I M1 …. …. …. …. …. …. …. + …. …. …. …. …. …. …. F1 Father I Mother I I I I Brother M0 F0 Sister

Inheritance ChartInheritance 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

DYS388 12DYS390 24DYS391 11DYS392 13DYS393 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.

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

J N

H

I

A, B, C, D, X

K

Mitochondrial HaplogroupsMitochondrial Haplogroups

PhylogenyPhylogeny

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