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Article #3: Genetic genealogy

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Genetic genealogy is the application of DNA tests.
genetics to traditional genealogy. These tests involve the comparison of
Genetic genealogy involves the use of certain sequences of DNA pairs of
genealogical DNA testing to determine the individuals in order to estimate the
level of genetic relationship between probability that they share a common
individuals. ancestor in a genealogical time frame
The investigation of surnames in genetics and, through the use of a Bayesian model
can be said to go back to George Darwin, published by Bruce Walsh, to estimate the
son of the founder of evolutionary number generations separating the two
science. In 1875, Darwin fils (french individuals from their most recent common
"son") used surnames to estimate the ancestor.
frequency of first-cousin marriages and Y-DNA research involves short tandem
calculated the expected incidence of repeat (STR) and, sometimes, single
marriage between people of the same nucleotide polymorphism (SNP) testing of
surname (isonymy). He arrived at a figure the Y-chromosome. The Y-chromosome is
between 2.25% and 4.5% for present only in males and reveals
cousin-marriage in the population of information on the strict paternal line.
Great Britain, with the upper classes These tests can provide insight in the
being on the high end and the general recent (via STRs) and ancient (via SNPs)
rural population on the low end. genetic ancestry. A Y-chromosome STR test
Admittedly, this was a pretty crude will reveal a haplotype, which should be
effort by modern scientific standards but similar among all male descendants of a
quite innovative for its era. The next male ancestor. SNP tests are used to
stimulus toward using genetics to study assign people to a paternal haplogroup,
family history had to wait until the which defines a genetic population.
1990s, when certain locations on the Y mtDNA research involves sequencing the
chromosome were identified as being HVR-1 region, HVR-2 region or both. A
useful for tracing male-to-male mtDNA test can also be used to assign
inheritance. people to a maternal haplogroup.
When a Canadian nephrologist of Ashkenazi Either Y-DNA or mtDNA test results can be
parentage attended synagogue one morning, compared to the results of others via
he noticed that a Sephardic congregant private or public DNA databases.
with the same surname as his – Cohen Biogeographical and ethnic origins
— seemed to have completely different Additional DNA tests exist for
physical features. According to the determining biogeographical and ethnic
traditions of Judaism, Cohens are origin, but these tests have less
descended from the same male ancestor, relevance for traditional genealogy.
the priest Aaron, brother of Moses. Dr. See biogeographic ancestry, genealogical
Skorecki reasoned that if Kohanim (plural DNA test and population genetics (the
of Cohen) were indeed the descendants of study of the distribution of and change
only one man, they should have a common in allele frequencies).
set of genetic markers and should perhaps Human migration
preserve some family resemblance to each Genealogical DNA testing methods are also
other. being used on a longer time scale to
To test that hypothesis, he contacted trace human migratory patterns and
Professor Michael Hammer of the determine, for example, when the first
University of Arizona, a researcher in humans came to North America and how they
molecular genetics and pioneer in Y got there. For several years, a number of
chromosome research. Their report in the researchers and laboratories from around
Nature in 1997 sent shock waves through the world have been sampling indigenous
the worlds of science and religion. A populations from around the globe in an
particular marker pattern (now known as effort to map historical human migration
the Cohen Modal Haplotype, or CMH) did patterns. Recently, several projects have
indeed appear in 98.5% of Jewish men been created that are aimed at bringing
bearing the surname Cohen (or a variation this science to the public. One example
thereof such as Cone). It was apparently is the Genographic Project, which aims to
true that knowledge of their priestly map historical human migration patterns
calling and descent from the Biblical by collecting and analyzing DNA samples
Aaron had been strictly preserved for from over 100,000 people across five
thousands of years. Moreover, the data continents.
showed that there were very few Typical customers and interest groups
“non-paternity events." Male DNA testing customers most often
The first to test the new methodology in start with a Y chromosome test to
general surname research was Bryan Sykes, determine their father's paternal
a molecular biologist at Oxford ancestry. Females generally begin with a
University. His study of the Sykes mitochondrial test to trace their ancient
surname obtained valid results by looking maternal lineage, which males often have
at only four markers on the male tested for the same purpose.
chromosome. It pointed the way to A common consumer goal in purchasing DNA
genetics becoming a valuable assistant in testing services is to acquire
the service of genealogy and history. In quantified, ‘scientific’ linkage to a
2001, Sykes went on to write the popular specific ancestral group. A compelling
book The Seven Daughters of Eve. example of this motive is found in the
In the wake of that book's success, and expressed desires of some consumers to be
the growing availability and proven to have Viking paternal ancestry.
affordability of genealogical DNA tests, In keeping with this marketplace demand,
genetic genealogy as a field began one British DNA testing service, Oxford
growing rapidly. By 2003, the field of Ancestors, offers a Y chromosome test
DNA testing of surnames was declared purporting to measure whether given males
officially to have “arrived” in an are of "Viking stock." Those whose DNA
article by Jobling and Tyler-Smith in falls into the designated haplogroup are
Nature Reviews Genetics. The number of issued Viking Descendant certificates by
firms offering tests, and the number of the testing service. The same DNA testing
consumers ordering them, had risen company (Oxford Ancestors) participated
dramatically. in producing a televised documentary,
Another milestone in the acceptance of "The Blood of the Vikings," in
genetic genealogy is the Genographic conjunction with the BBC, which showed
Project. The Genographic Project is a how DNA testing could reveal Viking
five-year research partnership launched ancestry.
by the National Geographic Society and The Rootsweb DNA-Genealogy Internet
IBM in 2005. Although its goals are discussion group has a membership of 750
primarily anthropological, not subscribers from around the world. Some
genealogical, the project's sale of over subscribers have had various DNA tests
150,000 testing kits (as of July 2006) of performed and are seeking advice and
its public participation kits, which test guidance in interpreting their results,
the general public for either twelve STR and the list also includes administrators
markers on the Y chromosome or the HVR1 of DNA projects that examine surnames
region of the mtDNA, has helped increase (e.g., Stewart, Hurst, Wells, etc.),
the visibility of genetic genealogy. geographic regionans (e.g., the Shetland
Annual sales of genetic genealogical Islands, Mexico, Scotland, etc.), or
tests for all companies, including the ethnic groups (e.g., the Pennsylvania
laboratories that support them, are Deutsch, African Americans, etc.). The
estimated to be in the area of $60 sophistication of subscribers ranges from
million (2006). expert to novice, and, in some cases,
Uses subscribers have been credited with
Paternal and maternal lineages making useful and novel contributions to
The two most common types of genetic knowledge in the field of genetic
genealogy tests are Y-DNA (paternal line) genealogy.
and mtDNA (maternal line) genealogical






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