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
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 Franklin
“The Dark Lady of DNA”
Review 1
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George Darwin
Double Helix DNA
Where it all started
Cohen Modal Haplotype
Oxford Ancestors
Family Tree DNA
DNA Testing Today
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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
M8 + F8
M9 + F9
MA
I
I
M4 …. + …. F4
I
M2 …. …. …. + ….
GrandFather
I
I
M1 ….
Father
+ FA
MB + FB
I
I
M5 …. + …. F5
I
…. …. F2
MC + FC
MD + FD
ME + FE
MF + FF
I
I
I
I
M6 …. + …. F6
M7 …. + …. F7
I
I
M3 …. …. …. + …. …. …. F3
I
GrandMother
I
…. …. …. …. …. …. + …. …. …. …. …. …. …. F1
I
Mother
I
I
I
I
Brother M0 F0 Sister
Branches and Twigs
Haplogroups are the descents or megafamilies 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 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.
Y Chromosome
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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
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Chromosome
Male vs. female
PCR
STR
Haplogroup
Haplotype
Mitochondrial DNA
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What is it
Why is it useful
Mutations
Lineages
Mitochondrial Haplogroups
N
H
I
A, B, C, D, X
Phylogeny
Review 3
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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
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Relationship testing (siblings adopted)
Police work – CODIS profiles, OmniPop
DNA Fingerprint Test
DNAPrint – biogeographical markers
Inherited disease
Examples of Autosomal Tests
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DNA Fingerprint Test
Eurasian1.0
EURO DNA 2.0
SNP testing
Genetic screening
Genome-wide genetic research
Review 4
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Autosomal
Recombination
Allele
Ancestry Informative Marker
DNAPrint
DNA Fingerprint Test
Base pairs
STRs
Questions and Discussion
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DNA Testing
Y chromosome
mtDNA
autosomal
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Genetic Genealogy, History and Prehistory, and DNA