Utility of DNA Testing in Genealogical Research Carrie Rowland Mercer County Chapter of Ohio Genealogical Society November 1, 25, 2009 [email protected].

Utility of DNA Testing in Genealogical

Research

Carrie Rowland

Mercer County Chapter of Ohio Genealogical Society

November 1, 25, 2009

[email protected]

What is DNA ?

The molecules inside every cell in our bodies that carry genetic information and pass it from one generation to the next. This information is the biological and genetic instructions need to build an organism and control day to day functions of all cells.

• skin cells • liver cells • brain cells…….

It’s all the same !!!!!

What Does it look like ?

Types of DNA Testing :

● Nuclear

● Y Chromosome (Y-STR)

● Mitochondrial (mtDNA)

● Single Nucelotide Polymorphisms (SNPs)

● Paternity

Sex chromosomes

X,X

X,Y

Nuclear DNAMom Dad

Mitochondria

Nuclear DNA:

Chromosomes

There are two types of DNA – thus, two types of testing:

1

2

Types of DNA testing: Nuclear

● Unique to a single individual (non-twin).

● Inherited from both parents.

● Similar to a Social Security number.

● Used for Forensic applications or maternity/paternity testing.

● Markers, not genes used for analysis

● Junk DNA – no medical value.

● No help at all with genealogical questions.

2 copies/cell

Autosomal

Chromosomes

Nuclear DNA:

• Only two copies/cell.

• Inherited from both

parents.

• Unique to individual.

Two types of DNA: Nuclear

Types of DNA testing: Nuclear

Strengths:- Unique to an individual.- Can determine paternity. - At a high level of certainty.- Easy to test for and interpret.

Weakness:- Recombine = mixing.- Not helpful in genealogical studies.

Types of DNA testing: Y-chromosome

● IDENTICAL profile in all males in a paternal line.

● Y chromosome passed only from father to son.

● Similar to a Surname in males.

● Used to assist in determining a male line.

● Markers, not genes used for analysis.

● Junk DNA – no medical value.

● Profiles called “haplotypes”.

Types of DNA testing: Y-chromosome

Strengths:-Passed from generation to generationwithout change – good lineage markers.- Found only in Males.- Prevalent databases for comparison.- Do not recombine = NO mixing.

Weakness:- Cannot test females for a paternal line.- Difficulty finding a closely related male ?- No male children – line “dies out”.- Unknowns: Adoptions, infidelity…..- Do you really, really want to know ?

(~ 78 genes)

(~ 1000 genes)

Y-STRs

YPrince Philip

Prince CharlesPrincess AnnePrince Andrew

Females: X XMales: X YIdentical YIdentical Y

Y-STRsY

Prince William Prince Harry Princess Beatrice Princess Eugenie

Y Y

Y Y

X, X X, X

Identical Y

Identical YIden

tical

Y

Identical Y

Y-STRs

Y-STR testing: Thomas Jefferson and Sally Hemings

-Dr. Eugene Foster (1996) – located living relatives of Thomas Jefferson.- Needed direct male descendants from both Jefferson & Hemings lines.- Jefferson had only one son, who died in infancy.- Other possibilities – Jefferson’s brother and a paternal uncle.- Seven living descendant’s of his paternal uncle still alive in 1996.- Even more difficult on the Hemings side.- Only one of three sons could be located, Eston (Jefferson), who had two sons.- Only one living male descending from Eston could be located (Jefferson).- Thomas Woodson Jefferson – Sally’s first child (according to legend).- Samples from Jefferson’s nephews who might have fathered Sally’s children.- Results of 19 markers were evaluated by researchers at Oxford University.- All 19 markers matched between Jefferson and Hemings descendants.- Jefferson at least fathered Hemings last male child ?- Jefferson’s nephew’s markers did not match the Hemings descendant Y markers- Jefferson’s markers did not match Thomas Woodson Jefferson.- In total tested over 15 generations.- Did not have to disturb the burial site of President Jefferson.- However, could another Jefferson male have been the father ?- According to the historical record, 25 adult male Jefferson descendants lived in Virginia during the time of Ms. Hemings pregnancies.

Y-STR testing: Thomas Jefferson and Sally Hemings

- November of 1998 – Nature, 362, 26-27.

- January of 2000 – Thomas Jefferson Memorial Foundation “strong likelihood” (jeffersonondna.com) .

- May 2002 – Monticello Association voted to NOT admit descendants of Sally Hemings into the organization.

- February,2003 - Thomas Jefferson Heritage Society (ww.tjheritage.org) – “the evidence is not definitive….” ”the DNA evidence could not specify Thomas Jefferson as the father to the exclusion of all others”.

Types of DNA testing: Mitochondrial

● IDENTICAL profile in all children from The same mother (maternal line).

● Inherited from MOTHER only.

● Identical profile found in daughters & sons.

● Used for assist in determining a maternal line.

● Markers, not genes used for analysis.

● Junk DNA – no medical value.

● Effective for ancient and degraded samples.

1,7oo/cell

Mitochondria

Mitochondrial DNA:

• > 1,000 copies/cell.

• Maternally inherited.

• Not unique to individual.

Two types of DNA: Mitochondrial

Types of DNA testing: Mitochondrial

Strengths:- Both males and females can be tested.- Easy to generate a profile – ample material.- Can test ancient and degraded samples.- Test hair, bones and teeth.- Do not recombine = NO mixing.

Weakness:- Hard to correlate with surname.- No female (or any) children – line “dies out”.

Queen Elizabeth II

Princess Ann Prince Charles Prince Andrew

IdenticalIdentical

Identical

Identical copies go from Mom to ALL of her children male and female.

Mitochondrial DNA aka: mt-DNA

Mitochondrial DNA aka: mt-DNA

Mt-DNA from maternalline of Queen Elizabeth II

Mt-DNA from maternal line of Lady Diana Spencer

Mt-DNA from maternal Line of Lady Sarah Ferguson

mt-DNA

Mitochondrial testing: The Romanov Family

- Tsar, Nicholas II, the last ruling Russian Tsar.- For the previous 300+ years the Romanov family ruled the country of Russia.- 1917 abdicated his throne during the Bolshevik Revolution.- 1918 (July), the Romanov family (Tsar Nicholas II, Wife, Tsarina Alexandra, four daughters and one son were executed by the Ural Soviets, bodies where burned and buried in two separte graves.

-1970 the grave of Nicholas, Alexandra and three of their four daughters were located.- 1991 DNA testing was conducted on the remains and compared to present day descendants.- Nuclear DNA established familial relationship between the Tsar, Tsarina and three of the female children (paternity testing on nuclear DNA).- mtDNA profiles from Tsarina Alexandra and her three daughters matched the mtDNA profile of Prince Philip (descendants of the same maternal line - Queen Victoria).- 2007 the grave of two children were found 70 meters from the first grave.- mtDNA test results from bone fragments and teeth indicated an exact match between the mtDNA profile of Prince Philip confirming that they were the children of Alexandra-Anna Anderson.

Test your own DNA:

12 marker Y-STR test ~ $9937 marker ~$14967 makers ~ $248mtDNA ~ $99

Turnaround time ~ 7 weeks

Should only be used in conjunction with traditional genealogical research.

Why: The conclusions are not absolute certainties, the DNA evidence lends very strong support to conclusions.

Number of matching markers

50% probability that the MRCA was no longer than this number of generations

90% probability that the MRCA was no longer than this number of generations

95% probability that the MRCA was no longer than this number of generations

10 of 10 16.5 56 72

11 of 12 17 39 47

12 of 12 7 23 29

23 of 25 11 23 27

24 of 25 7 16 20

25 of 25 3 10 13

35 of 37 6 12 14

36 of 37 4 8 10

37 of 37 2 to 3 5 7

65 of 67 6 12 14

66 of 67 4 8 9

67 of 67 2 4 6Familytreedna.com

Probability for Most Recent Common Ancestor (MRCA)

MutationsA mutation occurs when DNA is copied slightly incorrectly within the body. It is worth noting that this is a natural phenomenon and is indicative of Darwin's 'Theory of Evolution' working at a molecular scale!

Problem: Can be difficult to attribute to the proper generation.Calculating time to Most Recent Common Ancestor (MCRA) is based upon probability and is NOT an exact science. We can identify the most likely time that a common ancestor might havelived, but there is always a degree of uncertainty. Think of it as a range rather than a point in time.

Used to predict ancestral backgroud.

A single nucleotide polymorphism (SNP) is a change to a single nucleotide in a DNA sequence. The relative mutation rate for an SNP is extremely low. This makes them ideal for marking the history of the human genetic tree.

Single Nucleotide Polymorphism (SNP)

Very rare - (approx 1/100,000,000 generations)So infrequent that it is reasonable to assume thatthey have occurred only once in the course of humanevolution.

DNA is a science of exclusion, NOT inclusion.

DNA testing should be considered only to helpverify exhaustive research of the historical record.

Most Important Slide !!!!!!!!

Blue Jacket: Where the story began

MSgt. Donald Eugene Bluejacket, 1946.

Mr. Robert Van Trees

The historical recordWho Was Blue Jacket ?

● Blue Jacket born ~ 1738-1740, died ~ 1808-1810

● Became Chief early 177o’s

● Consigner of the Treaty of Greenville, August 3, 1795. ● Treaty of Fort Industry (OH), 1805.

● United the fragmented native populations.

● Led a conglomeration of Ohio Indian tribes in several battles against white expansion.

Painting by: Howard Chandler Christy, 1945Signing of the Treaty of GreenvilleHanging in the Rotunda of the Ohio Statehouse

The historical recordWho was Marmaduke (van)

Swearingen ?

● Born January, 1763 near Hagerstown, Maryland (Swearingen family Bible).

● Dutch descent.

● Moved to Fayette County, PA at the age of seven years.

● Speculated capture about the year 1778 at age 17 years.

● No family or public record speaks of his death.

BlueJacket Lineage

• 1877 Thomas Jefferson Larsh- grandson of Marmaduke’s sister Sarah.

• An Important Historical Letter - “Very interesting facts about a noted Indian chief” 1877 in the Daily Ohio State Journal.

• Swearingens incorporated the story into their family genealogies.

• Little to no attempts were made to check authenticity

• Possibly “embellished” over time.

It doesn’t add up

• Blue Jacket was said to have been “captured” or known by Daniel Boone and Simon Kenton – there has never been a single reference indicating that Bluejacket was caucasian.

• Joseph and Nancy Moore were noted in a land deed as being “half bloods”.

• Diary of a prisoner (Oliver Spencer, 1792) noted Bluejacket as being “the most noble in appearance of and Indian (he) ever saw.

• Bluejacket required an interpreter at the signing of the Treaty of Greenville.

It doesn’t add up

Bluejacket MarmadukeBirth 1740 1763Death 1810 ?Bluejacket' Town 1773 10 yrs oldTrader 1750's xMargaret Moore returned (Nancy) 1765 2 yrs oldBirth of Bluejacket's son James 1765 2 yrs oldBirth of Bluejacket's son George 1770 7 yrs oldBattle of Point Plesant 1774 11 yrs oldMarmadukes capture 1778 15 yrs oldJohn Swearingen's will 1784 19 yrs oldTreaty of Greenville 1795 x

Methodology

• Buccal swabs from direct male line descendants:– Six individuals from the Bluejacket family

Blue Jacket Family

James (no male descendants)

Chief Blue Jacketwith wife "Metis" Baby George II G6 G21 G68 G147

George I Henry H3 H8 H33 H88 H121

C7 C47 C109 C171 Rev. Charles

C8 C56 C134 C189

(1740)

(1970)

Methodology

• Buccal swabs from direct male line descendants:– four individuals from the Swearingen family:

Swearingen Family

Thomas IIV336 V338 V339

Charles V334 V335 Maryland Van John V337 V340 V341 V342

Thomas Swearingen Marmadukewith wife Jane (Hyde?)

Samuel Samuel Jr. S172 S173 S174 S175 S176 S177 S178

John Thomas J193 J194 J195 J196 J197 J198

(1763) (1945)

Methodology

• Sample :Buccal swabs from direct male line descendants:– Six individuals from the Bluejacket family– Four individuals from the Swearingen family

• Test: Promega Y-Plex 12 test kit that evaluated 12 Y chromosome loci.

• Generate results: Generated a haplotype for each family.

• Compare to a database: Comparisons made to the Reliagene (3406 ind.) and PowerPlex® (2443 ind.) online Y-STR databases.- no matches to the Bluejacket haplotype- Swearingen family matched:

Y-STR Haplotypes

What is a feasible mutation rate over seven generations ??

Could these two families actually be Related ??

12 loci Haplotype – consistent at only four of 12 loci

Y-chromosome loci DYS391 DYS389I DYS439 DYS389II DYS438 DYS437 DYS19 DYS392 DYS393 DYS390 DYS385a DYS385bBlue Jacket profile 10 13 12 29 11 14 14 14 13 24 16 18Swearingen profile 11 13 12 29 12 15 14 13 12 23 11 14

X X X X X X X X

Conclusions

• Considering the mutation rate (~ 1/900 years, it is not very likely that the Marmaduke Van Swearingen was Bluejacket.

• Nor is it very likely that the two families are even related in any way via the male line.

Conclusions (In General)What DNA testing CAN do:- Validate in invalidate existing genealogy research (if complete).- Determine if an individual is related to another individual, or a group of

individuals.- Identify a common ancestor and infer probability as to when that ancestor likely

lived.- Help confirm/nullify surname (and via a common male ancestor).- Help confirm/nullify maternal lines.- Provide clues about ethnic origin.

What DNA testing can NOT do:- Cannot determine the degree of blood relationship.- Cannot identify the exact generation, but can identify the most likely time frame.- Not likely to identify down to an exact ancestor with certainty.- Will not reveal any information about your health or predisposition to disease.