DNA, Ethnicity, Genetics
and Genealogy: Mapping
History and Culture with
Haplogroup Studies and
Surname Research
Workshop at Fourth International
Conference on Diversity, Los
Angeles, Tuesday, July 6, 5-6 p.m.,
Rm. 9, Conference Center, UCLA
Sunset Village
Researching Your
Anthropogenealogy
and Family Ethnicity
with DNA
Presentation by
Donald Panther-Yates
DNA Consulting for History & Genealogy
Introduction
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Walk through steps in researching
Direct male line (surname)
 Matrilineal deep history (mtDNA)
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Explain usefulness of gene banks
Y-STR Haplotype Reference Db
 Cambridge Reference Sequence
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Not to define ethnicity, not technical
About dnaconsulting.ws
Topics of Discussion
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Definitions
History of
 genealogy by genetics
 DNA-based
“anthropogenealogy”
Y-chromosomal route
mtDNA route
DNA Prints and other
methods
Examples
Y Chromosome
One of the two sex chromosomes,
X and Y. The Y chromosome
passes down from father to son.
Females don't receive it. The fact
that the Y chromosome goes down
the paternal line is what makes it
valuable for genealogy studies,
since in general it follows a
surname line.
X Chromosome
X is the sex chromosome that is
present in both sexes: singly in
males and doubly in females.
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)
Markers
Markers are the site that is tested on the
chromosome. Also known as sites, or loci.
Names like DYS 390, DYS 285a.
Scores or values on each marker are
determined by how many STRs the
double helix amino acids form – Short
Tandem Repeats. Also called alleles.
STR - Short Tandem Repeats
Known also as microsatellite, an STR is a
short DNA motif (pattern) repeated in
tandem. ATGC repeated eleven times
would give the marker a value of 11.
What is a gene?
Allele
Alternative form of a gene. One of the
different forms of a gene that can exist at a
single locus .
Bases
Adenine is the "A" of the four bases in DNA
that make up the letters ATGC. The other
bases are thiamine (T), guanine (G) and
cytosine (C). Adenine always pairs with
thiamine, guanine with cytosine.
Mutation
Mutation
A heritable change that may occur in a
gene in the form of a chemical
rearrangement, or a partial loss or gain of
genetic material, leading to a different
number of repeats of a certain sequence
(male) or change of one of the bases in a
sequence (female).
Mutation rate
The rate at which a mutation can happen.
Brief History of DNA Testing
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Gregor Mendel (19th cent.)
Charles Darwin fils and
cousin marriage
Watson & Crick (double helix,
1953)
Biotechnology (1970s-80s)
Cavalli-Sforza
Human Genome Project
Cohen gene (1997)
Skorecki et al. 1997
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. 611):32.
Recent Developments
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Brian Sykes
Family Tree DNA
Hammer & Nomenclature
Y-STR Haplotype Ref. Database
Cambridge Reference Sequence
 Mitomap at Emory
Melungeon DNA Project by
Elizabeth Hirschman
DNA Consulting for History &
Genealogy
Prominent Researchers
1. Verify the raw data for 12 target alleles from the original lab
report source.
2. Control for laboratory-specific testing parameters, known
validity and reliability issues, and nomenclature.
3. Perform a global search in the Y-STR Database for the
haplotype.
a. Search for truncated or mutational matches if
unsatisfactory yield.
b. Compute descriptive statistics for relevant countries.
c. Establish bivariate research theses.
d. Determine patterns, models, correlations, and other
inferential statistics.
e. Control for fast-moving markers and different
mutation
rates and estimate most recent common
ancestor.
f. Estimate risk factor of non-paternity events in line.
4. Compare search results with the other available sequence
databases (Ybase, Sorenson, Family Tree DNA)
a. Repeat steps 3a.-3f, if necessary.
5. Search DNA Surname Projects.
a. Correlate branches or allonymic (other surname)
genealogies.
b. Repeat steps 3a.-3f., if necessary.
6. Conduct chronological interactive search in relevant
genealogy
forums and e-mail discussion list threads at
Rootsweb and
other sites.
7. Search WorldCat for archival papers, special collection
materials, and unique titles.
8. Check unpublished or password-protected databases,
including:
a. Subscriber-based information at Ancestry.com
b. Melungeon DNA Surname Project (unpublished)
c. JewishGen (need research code)
d. Scottish Clans (partially private)
e. Rabbinical genealogies (largely private)
f. Native American genealogies (usually requires e-mail
correspondence with owners)
g. Human Genome Project (requires inputting correct
gene sequence and glossary term)
h. PubMed at the National Library of Medicine (may
require publisher's password)
i. Linkage literature and deep history of genotype (highly
specialized).
9. Read any library articles or order any required extra materials
such as interlibrary loan books.
10. Adjust inferences and retest research thesis.
11. Conduct general Internet keyword and natural phrase
searches.
12. Assemble data, design report, identify relevant standard
definitions, maps, scientific boilerplate, disclaimers and notes,
write thesis and customized highlights.
13. Compose in HTML, with correct links, illustrations, charts
and references.
14. Save file in sendable format (usually zipped), back up, and
store.
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-STR
Haplogroups
C
R1a1
R1b
E3b
J
I
C
R1a1
E3b
J
I
MtDNA
Haplogroups
J
N
H
I
A, B, C, D, X
K
Single Nucleotide
Polymorphisms
SNPs are used to:
Determine/confirm haplogroup
affiliation
Find Cohanim pattern (in J2)
 Subdivide haplogroups into subhaplogroups, subclades (I1b2, I1b*,
K1, K2)
Drug research, protein coding,
disease linkage/screening, and
gene therapy
Other Methods
Genetic profile (DNA Print)
Human Lymphocyte
Antigens
Polymorphic Alu insertions
No practical way to test
“cross-over” lines of descent
Ancient DNA (problematical)
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Cooper Haplotype in Y-STR Reference
Database
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SNP test by FTDNA indicates
R1b
Hundreds of surname matches
England modal country match
Matched
Elizabeth Hirschman (Caldwell)
 My wife’s Ramey cousin
 Much of Clan Stewart
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Cooper Haplotype Distribution
Nina Jo Newberry with son Ken
“Newberry” Distribution in Y-STR Db
Frequencies of Haplogroup I
and Sub-haplogroup I1a
in Select European Populations
French (Low Normandy) 24/12
South Sweden 41/36
Germany 38/25
Saami (Finland) 31/29
Portuguese 5/1.3
English 18/NA
Jewish 1/1
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Source: Rootsi et al (2004)
Research Hypothesis Tested
by Inferential Statistics
from Forensic DNA Data
Traced backward from
N.C.
New England
Warwickshire, England
Normandy
Saxony
Denmark
Thorny Issues
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Non-paternity Events
Mutation rates and MRCA
Convergence and ancient DNA
Surname homology (isonymy)
Millions of lineages in one
person
 Non-random mating, cousin
marriage
 Importance of patrilinear
inheritance
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