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Utility of DNA Testing in Genealogical Research Carrie Rowland Mercer County Chapter of Ohio Genealogical Society November 1, 25, 2009 carrie.rowland@wright.edu What is DNA ?

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utility of dna testing in genealogical research

Utility of DNA Testing in Genealogical Research

Carrie Rowland

Mercer County Chapter of

Ohio Genealogical Society

November 1, 25, 2009

carrie.rowland@wright.edu

what is dna

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 !!!!!

slide4

Types of DNA Testing :

● Nuclear

● Y Chromosome (Y-STR)

● Mitochondrial (mtDNA)

● Single Nucelotide Polymorphisms (SNPs)

● Paternity

slide5

Nuclear DNA

Dad

Mom

X,X

X,Y

Sex chromosomes

slide7

Types of DNA testing: Nuclear

Autosomal

● 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

slide8

Two types of DNA: Nuclear

Nuclear DNA:

• Only two copies/cell.

• Inherited from both

parents.

• Unique to individual.

Chromosomes

slide9

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.
slide10

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”.

slide11

Types of DNA testing: Y-chromosome

  • Strengths:
  • Passed from generation to generation
  • without 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 ?

(~ 1000 genes)

(~ 78 genes)

slide12

Y-STRs

Females: XX

Males: XY

Y

Identical Y

Prince Philip

Identical Y

Prince Andrew

Prince Charles

Princess Anne

slide13

Y-STRs

Y

Identical Y

Identical Y

Y

Y

Identical Y

Identical Y

X, X

X, X

Y

Y

Prince William

Prince Harry

Princess Eugenie

Princess Beatrice

slide15

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.
slide16

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”.
slide17

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

slide18

Two types of DNA: Mitochondrial

Mitochondrial DNA:

•> 1,000 copies/cell.

• Maternally inherited.

• Not unique to individual.

Mitochondria

slide19

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”.
slide20

Mitochondrial DNA

aka:mt-DNA

Identical copies go from Mom to ALL of her children

male and female.

Queen Elizabeth II

Identical

Identical

Identical

Prince Andrew

Prince Charles

Princess Ann

slide21

Mitochondrial DNA

aka:mt-DNA

Mt-DNA from maternal

line of Queen Elizabeth II

Mt-DNA from maternal

line of Lady Diana Spencer

Mt-DNA from maternal

Line of Lady Sarah Ferguson

slide23

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.
slide24

Test your own DNA:

12 marker Y-STR test ~ $99

37 marker ~$149

67 makers ~ $248

mtDNA ~ $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.

slide26

Mutations

A 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 have

lived, but there is always a degree of uncertainty. Think of it as

a range rather than a point in time.

slide27

Single Nucleotide Polymorphism (SNP)

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.

Very rare - (approx 1/100,000,000 generations)

So infrequent that it is reasonable to assume that

they have occurred only once in the course of human

evolution.

slide29

Most Important Slide !!!!!!!!

DNA is a science of exclusion, NOT inclusion.

DNA testing should be considered only to help

verify exhaustive research of the

historical record.

blue jacket where the story began
Blue Jacket: Where the story began

Mr. Robert Van Trees

MSgt. Donald Eugene Bluejacket, 1946.

the historical record who was blue jacket
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, 1945

Signing of the Treaty of Greenville

Hanging in the Rotunda of the Ohio Statehouse

the historical record who was marmaduke van swearingen
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
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
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.

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

(1740)

(1970)

methodology37
Methodology
  • Buccal swabs from direct male line descendants:
    • four individuals from the Swearingen family:

(1763)

(1945)

methodology38
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
Y-STR Haplotypes

12 loci Haplotype – consistent at only four of 12 loci

What is a feasible mutation rate over seven

generations ??

Could these two families actually be

Related ??

conclusions
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
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.