Genetic Genealogy Research

The completion of the human genome sequencingpresent, permitting inference of human evolution,
project was the first step in allowing scientists topopulation affinity and demographic history (358).
unravel the secrets contained in our DNA. FurtherTheir report was based upon "the analysis of
over the past few years DNA testing has1062 globally representative individuals" (Underhill
become affordable and easy to do. This has358). They concluded that the subjects "represent
spawned the practice of performing DNA testingthe descendants of the most ancestral
for Genealogical purposes which is called Geneticpatrilineages of anatomically modern humans that
Genealogy.left Africa between 35,000 and 89,000 years
One of the first genetic genealogy studies wasago" (Underhill 358).
conducted in the late 1980s by scientists with theSo far genetic genealogy research has focused on
Department of Biochemistry at the University ofthese two kinds of DNA. As mentioned previously
California, Berkeley. These scientists Rebecca L.mtDNA is passed along the maternal line and
Cann, Mark Stoneking and Allan C. Wilson studiedY-Chromosome DNA is passed along the paternal
a newly discovered kind of DNA. Mitochondrialline. These two kinds of DNA effectively
DNA (mtDNA) is contained not in the nucleus ofencompass all of our ancestors. Yet they provide
our cell, but in the mitochondria organelles of ourno information about our ancestors inside the
cells. These scientists chose to study Mitochondrialencompassed area. For example our maternal
DNA (mtDNA) because of its three uniquegrandfather (mother's father) couldn't contribute
properties which they explain as:any mtDNA or Y-Chromosome DNA to our
First, mtDNA gives a magnified view of themother. Yet he did contribute a third type of DNA
diversity present in the human gene pool, becausecalled autosomal DNA. This type of DNA has yet
mutations accumulate in this DNA several timesto be studied for Genetic Genealogy purposes
faster than in the nucleus. Second, becausebecause of its inherent difficulties.
mtDNA is inherited maternally and does notThe main reason autosomal DNA is just now
recombine, it is a tool for relating individuals to onebeing studied is because scientists aren't sure how
another. Third, there are about 1016 mtDNAto determine which autosomal DNA came from
molecules within a typical human and they aremom and which came from dad without testing
usually identical to one another (Cann 31).one or both of our parents. This situation is
They extracted and compared mtDNA from "147illustrated by the mathematical equation X = Xm
people, drawn from five geographic populations"2 + Xd/2 where our autosomal DNA (X) is half of
(Cann 31). The researchers discovered that "Allour mom's (Xm/2) and half of our dad's (Xd/2).
these mitochondrial DNAs stem from one womanBy testing ourselves we identify our autosomal
who is postulated to have lived about 200,000DNA but can't determine which part came from
years ago, probably in Africa" (Cann 31). Theirmom or dad. Additionally testing one of our
findings also agree with the archaeology record asparents is necessary to determine exactly which
Cann explains "Studies of mtDNA suggest a viewparent contributed which part of our autosomal
of how, where and when modern humans aroseDNA. This type of testing is currently used for
that fits with one interpretation of evidence fromPaternity and near relationship testing. But quickly
ancient human bones and tools" (36).becomes impractical after a few generations
Swedish researchers Max Ingman, Henrikbecause of the difficulty of obtaining DNA samples
Kaessmann, Svante Paabo and Ulf Gyllenstenfrom probably deceased ancestors.
critical of these findings conducted their ownConclusion
study in 2000. They claimed that "almost allGenetic Genealogy is the science of analyzing
studies of human evolution based on mtDNADNA for genealogical purposes. Studies have
sequencing have been confined to the controlshown that we all stem from a common female
region, which constitutes less than 7% of theand male ancestor. Because this emerging science
mitochondrial genome" (Ingman 708). Further theyis so new, benefits of this research are still being
argued that the prior methods of analysis whereidentified. Currently I believe Genetic Genealogy
"providing data that are ill suited to estimations ofoffers three categories of benefits.
mutation rate and therefore the timing ofFirst is entertainment value. Finding out you're
evolutionary events" (Ingman 708). So theyrelated to famous people like George Washington,
decided to study the complete mtDNA sequenceJulius Caesar or Genghis Khan is just plain fun.
from 53 people of various races.Imagine the bragging rights and small-talk fodder
Surprisingly their attempt to discredit the previousthis provides at social gatherings.
research failed as they also came to roughly theSecond is scientific value. Current studies have
same conclusions. They conceded to the likelycorroborated other scientific findings such as the
hood of a common ancestor shared by all thehuman archaeological record. Medical sciences will
subjects despite being "geographically unrelated"benefit from correlating DNA studies with family
(Ingman 712). They estimated "The age of thegenealogies to isolate hereditary diseases.
most recent common ancestor (MRCA) forThird is relatedness value. Finding out you're
mtDNA, on the basis of the maximum distancerelated to a wealthy individual like Bill Gates may
between two humans...to be 171,500" (Ingmanentail a financial windfall. Most importantly of all is
712) instead of the earlier estimate of 200,000the ability to reunite families. Millions of displaced
years ago. But they refused to align their findingswar torn families and adopted children can now
with archeologists by stating "Whether theturn to Genetic Genealogy to find their relatives.
ancestors of these six extant lineages originallySources
came from a specific geographic region is notCann, Rebecca L. et al. "Mitochondrial DNA and
possible to determine" (Ingman 712). Lastly theyhuman evolution." Nature 325 (1987): 31-36
agreed on the potential of genetic genealogy byCarmichael, Terrence and Alexander Kuklin. How
summarizing:to DNA Test our Family Relationships? California:
Our results indicate that the field of mitochondrialAceN Press, 2000
population genomics will provide a rich source ofCavalli-Sforza, L. Luca et al. The History and
genetic information for evolutionary studies.Geography of Human Genes. New Jersey:
Nevertheless, mtDNA is only one locus and onlyPrinceton University Press, 1994
reflects the genetic history of females. For aIngman, Max et al. "Mitochondrial genome variation
balanced view, a combination of genetic systemsand the origin of modern humans." Nature 408
is required. With the human genome project(2000): 708-713
reaching fruition, the ease by which such dataTooker, Elisabeth. An Ethnography of the Huron
may be generated will increase, providing us withIndians, 1615-1649. New York: Syracuse University
an evermore detailed understanding of our geneticPress, 1991
history (Ingman 712).Underhill, Peter A. et al. "Y chromosome sequence
Their call for a more balanced view was shortlyvariation and the history of human populations."
answered because in 2000 a team of researchersNature Genetics 26 (2000): 358-361
from the Department of Genetics at StanfordWalsh, Bruce. "Estimating the Time to the Most
University lead by Peter A. Underhill published theirRecent Common Ancestor for the Y
results of studying Y-chromosome DNA. Onlychromosome or Mitochondrial DNA for a Pair of
males have the Y-chromosome which has uniqueIndividuals." Genetics 158 (2001): 897-912
properties as explained by Underhill:Zimmer, Carl. "After You, Eve." Natural History 3
Binary polymorphisms associated with the(2001): 32-35
non-recombining region of the human YGaron Yoakum is a representative for Relative
chromosome (NRY) preserve the paternal geneticGenetics.
legacy of our species that has persisted to the