Genealogical DNA test
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Genealogical DNA test

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A 'genealogical DNA test' involves examining the nucleotides at specific locations on a person's DNA. The tests results are meant to have no informative medical value and do not determine specific genetic diseases or disorders (see possible exceptions in Medical information below); they are intended only for use in genetic genealogy.

Procedure

The general procedure for taking a genealogical DNA test involves taking a painless cheek-scraping at home and mailing the sample to a genetic genealogy laboratory for testing. Some laboratories use mouth wash or chewing gum instead of cheek swabs. Most of the laboratories offer to store DNA samples for ease of future testing. All laboratories will destroy the DNA sample upon request by the customer, guaranteeing that a sample is not available for further analysis.

Types of tests

Genealogical DNA tests allow people to compare their DNA with that of others. Since as many as one in eight Americans are adopted or come from adopted parents or grandparents and do not know their biological lineage, such tests go far beyond ancestry tracing or just satisfying genealogical curiosity. They are also used to identify possible recent and far distant ethnic and geographic origins. The most popular ancestry tests are Y chromosome (Y-DNA) testing and mitochondrial DNA (mtDNA) testing. Other, less well validated ancestry tests attempt to determine ethnicity, a term that is intrinsically problematical.

Y chromosome (Y-DNA) testing

A man's paternal ancestry can be traced using the DNA on his Y chromosome (Y-DNA). This is particularly useful because the Y chromosome, like many European surnames, passes from father to son, and can be used to help study surnames. Women who wish to determine their paternal ancestry can ask their father, brother, paternal uncle, paternal grandfather, or a cousin who shares the same paternal lineage to take a test for them (i.e. any male family member who has the same surname as her father).

What gets tested

Y-DNA testing involves looking at segments of DNA on the Y chromosome (found only in males) where sequences of nucleotides repeat, known as short tandem repeats (STRs). These segments are considered "junk" DNA. The segments which are examined are referred to as genetic markers and are designated by a DYS number ('D'NA 'Y'-chromosome 'S'egment number). These STRs may also indicate a likely haplogroup for the Y chromosome, though this can only be confirmed by specifically testing for that haplogroups' single nucleotide polymorphisms (SNPs).

Understanding test results

A Y-DNA test ranges from 10 to 67 markers on the Y chromosome. It is important to check the number of markers that will be tested before choosing a test. For example, the Genographic Project only looks at 12 markers, while most laboratories and surname projects recommend testing at least 25. The more markers that are tested, the more discriminating and powerful the results will be. A 12 marker test is usually not discriminating enough to provide conclusive results for a common surname. Test results tell how many repeats a given subject has at a particular marker; the variations of repeats are known as alleles. For example, at DYS455, the results will show 8, 9, 10, 11 or 12 repeatshttp://ybase.org/statistics.asp Ybase statistics. The test results are then compared to another person's results to determine the time frame in which the two people shared a most recent common ancestor (MRCA). If the two tests match on 37 markers, there is a 50% probability that the MRCA was less than 5 generations ago and a 90% probability that the MRCA was less than 17 generations ago.

Mitochondrial DNA (mtDNA) testing

Map of human migration, according to mitochondrial DNA. The numbers represent thousands of years before present time. The blue line represents the area covered in ice or tundra during the last great ice age. The North Pole is at the center. Africa, harboring the start of the migration, is at the top left and South America is at the far right.

A person's maternal ancestry can be traced using his or her mitochondrial DNA (mtDNA). The DNA in the mitochondria (an organelle inside most cells) is generally passed down by the mother unchanged, though some exceptions have been shown. All test results are compared to the mtDNA of a European woman in haplogroup H, which is known as the Cambridge Reference Sequence (CRS). Any "mutations" or "transitions" that are found are simply differences from the CRS. The test results are compared to another person's results to determine the time frame in which the two people shared a most recent common ancestor (MRCA).

Haplotype and haplogroup

A Y-DNA haplotype is simply the numbered results of a genealogical Y-DNA test. For example, as of July 2005, the http://www.mumma.org/DNA.htm Mumma DNA Surname Project had Y-DNA tested 65 men, and had correlated the results to conclude a 'modal haplotype' for the Mumma surname. This is the most likely haplotype of the oldest Mumma ancestor.

Haplogroups are large groups of haplotypes that can be used to define genetic populations and are often geographically oriented.

Haplogroup SNP testing

Human Y-chromosome haplogroups are not defined by haplotype but by single nucleotide polymorphisms (SNPs), which are locations on the DNA where one nucleotide has "mutated" or "switched" to a different nucleotide. A variation must occur in at least 1% of the population to be considered a SNP.

A person's haplogroup can often be inferred from their haplotype, but can only be proven with a Y-chromosome SNP tests (Y-SNP test). In addition, some companies offer sub-clade tests, such as for Haplogroup H.

Y-DNA

Haplogroup prediction

A Y-DNA or mtDNA test will usually result in a haplogroup prediction. Because of the strong correlation between haplogroups and haplotypes, it is sometimes possible to determine the haplogroup without a SNP test.

For example, Haplogroup G has a known modal haplotype:

{| class="wikitable"

DYS markers

3
8
5
a
3
8
5
b
3
8
8
 
3
8
9
i
3
8
9
ii
3
9
0
 
3
9
1
 
3
9
2
 
3
9
3
 
3
9
4
 
4
2
6
 
4
3
7
 
4
3
9
 
4
4
7
 
4
4
8
 
4
4
9
 
4
5
4
 
4
5
5
 
4
5
8
 
4
5
9
a
4
5
9
b
4
6
4
a
4
6
4
b
4
6
4
c
4
6
4
d
-

Haplogroup G: Modal STR values

14
14
12
12
29
22
10
11
14
15
11
16
11
23
21
31
11
11
16
9
9
12
13
13
14
}

Few haplotypes will exactly match the modal values for Haplogroup G. One can consult an allele frequency table to determine the likelihood of remaining in Haplogroup G based on the variations observed.

Additional predictions include:

  • If DYS426 is 12 and DYS392 is 11, one is probably a member of haplogroup R1a1.
  • If DYS426 is 12 and DYS392 is not 11, one is probably a member of haplogroup R1b.
  • If DYS426 is 11, one is probably a member of haplogroup G,I, or J.
  • If DYS426 is 11 and DYS388 is 12, one is probably a member of haplogroup N3 or E3b

Ethnic tests

Aside from the issues of validity and reliability, there are at least three controversies surrounding the inference of ethnicity from DNA tests. One has to do with the very definition of 'race', a notion that has been widely discredited both in intellectual and political circles, though still cherished by individuals to varying degrees on a subconscious level. Thus, a disclaimer on the subject from one DNA test company reads, in part:

Cquote|Race is not a biological concept. There is not enough genetic differentiation among human populations to consider them zoological races... Race is a social construct. This means that these classifications (black, white, Hispanic, Jewish) are defined (and redefined) by the prevailing sociopolitical structure. Race is often a great amalgamation of many diverse populations and ethnicities. Race is often ascribed only to the minority populations.

Such thinking led the company's scientists to substitute the misnomer "European" for "Caucasian race," even though the "European" population included the Middle East, North Africa and Indian Subcontinent.

The second controversy is philosophical. Ethnic identity in public discourse often provokes a debate between the essentialists and the existentialists ? between those who believe that ethnicity is a fixed attribute largely deterministic of our behavior and our predispositions, on the one hand, and those who would argue that it derives rather from individuals' crafting of their own identity through social performance, from group belonging, and from the political and economic struggle of classes. Emerging knowledge of a people's roots can cut both ways, just as tracing genetic identity can lead to more problems than it solves. It can confirm or dispel differences, unite and divide. One controversy turns on the question of who gets to decide who is Jewish, who is African, who is Native American, and for what purposes? Who gets to determine new claims of nationality or ethnicity? How authoritative is the voice of science, and how binding are government rules or religious guidelines? What are the stakes and vested interests involved and who benefits from decisions?

In defense of ethnic testing, Paul Brodwin, an anthropologist working under an NIH grant to study the ethical aspects of the new commercial DNA technologies for consumers, writes, ?These techniques generate knowledge of ancestry: the links between people in the present and their biological forebears. They announce a long-term generational connection. Knowledge of these genetic connections alters how we imagine our 'significant same', those people who are significantly like me, connected to me... genetic knowledge has the power to change the group with whom we share a deep, horizontal comradeship.? These words reflect the attitude of the existentialists.

The third controversy has to do with traditional values of indigenous people, chiefly their opposition to "privileged" research methodologies. Population genetics pioneer Luca-Luigi Cavalli-Sforza was surprised one day in 1994 when a "declaration of war" from a Canadian group for indigenous rights crossed his desk objecting to the gathering of DNA from Native Americans and other endangered populations. The group demanded that samples taken without the subjects' knowledge or full disclosure of the scientists' intents (as was the case in many diabetes studies) be destroyed. There was fear that the genes of native peoples might be patented and exploited by pharmaceutical companies or used in eugenics experiments. Additionally, many tribal groups were opposed on religious grounds to having their DNA collected, pointing out that they already knew who they were and did not wish to participate in the dominant culture's rewriting of their history. Some very traditional societies, such as the natives of the Amazon, believed that DNA extraction was similar to photography and could "capture" their identity for malicious purposes.

Despite the problematical nature of ethnic testing, however, the popularity of personalized ethnic tests has burgeoned in recent years. In the face of the caveats of scientists, most people continue to cling to the definitions of ethnicity with which they are familiar.

Biogeographical ancestry

Autosomal DNA testing purports to determine the "genetic percentage" of certain ethnicities in a person. These tests examine SNPs, which are locations on the DNA where one nucleotide has "mutated" or "switched" to a different nucleotide. These tests are designed to tell what percentage Native American, European, East Asian, and African a person is. These tests are controversial—their validity has not been independently confirmed ? and the results are often disputed.

On companyAncestryByDNA describes these four ethnic groups as follows:

  • Native American: Populations that migrated from Asia to inhabit North, South and Central America.
  • European: European, Middle Eastern and South Asian populations from the Indian subcontinent, including India, Pakistan and Sri Lanka.
  • East Asian: Japanese, Chinese, Mongolian, Korean, Southeast Asian and Pacific Islander populations, including populations native to the Philippines.
  • African: Populations from Sub-Saharan Africa such as Nigeria and Congo region.

A personal genetic analysis can be performed by some companies that identify the indigenous and diaspora populations in which an individual's autosomal STR profile is most common. This test examines autosomal STRs, which are locations on a chromosome where a pattern of two or more nucleotides is repeated and the repetitions are directly adjacent to each other. The populations in which the individual's profile is most common are identified and assigned a likelihood score. The individual's profile is assigned a likelihood of membership in each of nineteen world regions:

  • Alaskan: Native Alaskans.
  • North Amerindian: Native North Americans (excluding Alaskans).
  • South Amerindian: Native Central and South Americans.
  • Mestizo: Native Americans blended with Europeans and Africans.
  • Arabian: The Arabian Peninsula.
  • Asia Minor: Anatolia and the Iranian Plateau to the Tarim Basin.
  • North African: North Africa.
  • North Indian: The Indo-Gangetic Plains region of Northern India.
  • Sub-Saharan African: Africa south of the Sahara Desert.
  • Eastern European: The eastern region of Europe.
  • Mediterranean: The Mediterranean region of Southern Europe.
  • Western European: The Atlantic region of Western Europe.
  • Australian: Aboriginal peoples of Australia.
  • East Asian: The Chinese region.
  • Indian: The Indian Subcontinental region.
  • Northeast Asian: The Korean Peninsula and the Japanese Archipelago.
  • Southeast Asian: Southeast Asia and the Malay Archipelago.
  • Polynesian: The Polynesian Islands.
  • Tibetan: The Himalayan Mountains and the Tibetan Plateau.

Native American ancestry

Autosomal testing, Y-DNA, and mtDNA testing can also be conducted to determine Native American ancestry. A mitochondrial haplogroup determination test based on mutations in Hypervariable Region I + II may establish whether a person's direct female line belongs to one of the five recognized Native American haplogroups, A, B, C, D or X, with the inference that he or she is, in whole or part, Native American. Comparisons with tribal-specific haplotypes of the sort published by geneticists Ripan Malhi and Jason Eschleman of Trace Geneticshttp://www.tracegenetics.com can further suggest tribal affiliation, though no federally-recognized tribe considers DNA as admissible evidence for enrollment. This is based rather on the demonstrable appearance of names of one's direct ancestors on tribal-specific Native American censuses prepared as the fallout of treaty making and relegation to reservations in the nineteenth century. Complicating factors are the Native American name controversy and recent evidence that indigenous North American mitochondrial haplogroups are not limited to the five named. Many Americans are just discovering their Native roots, however, and the small chance of belonging to one of the acknowledged lineages, particularly in the case of male lines, which were almost entirely eradicated by the process of history, does not deter some from attempting to validate their heritage with the goal of gaining admittance into a tribe. These tests, moreover, are ideal for adoptees with Native American blood, of which there are now many in U.S. and Canadian society because of past policies of assimilation.

African ancestry

African Ancestry offers Y-DNA and mtDNA testing to determine with which present-day African country the direct-line paternal lineage or direct-line maternal lineage shares its ancestry. A pioneer in this field is Rick Kittles, a co-director of the National Human Genome Research Institute. It is estimated that 30 percent of African American males have a European Y chromosome haplogroup. As for the mitochondrial haplotypes, African Ancestry, Kittles' Washington, D.C.-based company specializing in such tests, lists some 300 tribal affiliations and seeks to assign, within a certain measure of likelihood, an African tribe to testees. Thus, Oprah Winfrey, the television talk show host, announced that she had discovered her Zulu roots. Zulu heritage from southern Africa must be counted as extremely rare, however, since according to authorities like Salas, nearly three-quarters of the ancestors of African Americans taken in slavery came from West Africa and most of these were Bantu. The African American tribal movement, however, has burgeoned since DNA testing, with members of African American churches taking the test as groups. One reason is that owing to slavery, African Americans cannot easily trace their ancestry through surname research, census and property records and other traditional means.

Cohanim ancestry

Main|Y-chromosomal Aaron The Cohanim (or Kohanim) is a patrilineal priestly line of descent in Judaism. According to the Bible the ancestor of the Cohanim is Aaron, brother of Moses. Many believe that descent from Aaron is verifiable with a Y-DNA test. The set of markers which determine Cohanim ancestry are known as the Cohen Modal Haplotype. This hypothetical ancestor of the Cohanim is called Y-chromosomal Aaron.

The whole field of Y chromosome DNA testing began with a Canadian doctor's discovery that an overwhelming majority of Jewish males with the surname Cohen (Hebrew for ?priest?) had the same, or approximately the same set of markers, suggesting they truly descended from an original founder-priest like Aaron.

European testing

=European maternal clan testing

= For people with European maternal ancestry, mtDNA tests are offered to determine which of eight European maternal "clans" the direct-line maternal ancestor belonged to. This is simply an mtDNA haplotype test based on the research in the book The Seven Daughters of Eve.

=Sub-European population testing

= SNP testing may enable mostly-European individuals to determine to which Sub-European population they belong:

  • Northern European subgroup (NOR) - mostly Northern European or Irish
  • Southeastern European (Mediterranean) subgroup (MED) - mostly Southeastern Europeans (Greeks or Turks)
  • Middle Eastern subgroup (MIDEAS) - mostly Middle Eastern
  • South Asian subgroup (SA) - mostly South Asian from the Indian sub-continent (i.e. Indian)

Hindu testing

One company uses a 37-marker Y-DNA test which it says can be used to "verify genetic relatedness and historical gotra genealogies for Hindu and Buddhist engagements, marriages and business partnerships." Gotras are clans or families whose members trace their descent to a common ancestor, usually a sage of ancient times. The gotra proclaims a person's identity and a "gotraspeak" is required to be presented at Hindu ceremonies. People of the same gotra are not allowed to marry. There are 49 established gotras.

Melungeon testing

main|Melungeon#DNA testing Though one company provides Melungeon Y-DNA and mtDNA tests, any test will allow comparisons with the results of current and past Melungeon DNA studies. Brent Kennedy, whose 1994 book The Melungeons, the Resurrection of a Proud People, created a great amount of interest in Melungeons, partnered with Dr. Kevin Jones about 2000 in a volunteer effort to learn more about the Melungeon people. The results were never presented as actual haplogroups and were not peer reviewed, creating more controversy than enlightenment.see http://www.angelfire.com/tn3/youngeagle/NOTES_CONTAINING_DR.htm MY NOTES FROM THE AUDIO RECORDING CONTAINING DR. KEVIN JONES? DNA SEMINAR AT THE 4TH UNION IN KINGSPORT, TN. ON 21 JUNE 2002 Elizabeth Hirschman undertook one of the first DNA Surname Projects in 2001 with the Melungeon DNA Projectthe http://www.familytreedna.com/(221zqb55pq530u550efsjuat)/public/Melungeon/index.aspx Melungeon DNA Project at Family Tree DNA. Preliminary results were published in the book Melungeons The Last Lost Tribe in America. Some criticize Hirschman's project saying that none of the surnames tested were historically known Melungeon surnames. The Core Melungeon DNA Projecthttp://www.jgoins.com/core_melungeon.htm Core Melungeon Project at Family Tree DNA, administered by Jack Goins, is another effort to learn more about the Y chromosome haplogroups. These surnames are names that appeared in old documents and court cases as identified Melungeons. In contrast to the issues of nondisclosure and abrupt termination which plagued Dr. Kevin Jones' effort and the incompleteness of Dr. Hirschment's presentation online http://melungeons.com/articles/melungeondnaproject.htm#DYS# www.Melungeons.com where no haplogroups or ancestor's names are shown, the Core Melungeon test results are presented in full, and have been since its inception.

Benefits

main|Genetic genealogy Genealogical DNA tests have become popular due to the ease of testing at home and the various additions they make to genealogical research. Genealogical DNA tests allow for an individual to determine with 99.9% certainty that he or she is related to another person within a certain time frame, or with 100% certainty that he or she is not related. DNA tests are perceived as more scientific, conclusive and expeditious.

Drawbacks

Y-DNA and mtDNA testing each only trace a single lineage (one's father's father's father's etc. lineage or one's mother's mother's mother's etc. lineage). At 10 generations back, an individual has 1024 ancestors (excluding intermarriages) and a Y-DNA or mtDNA test is only studying one of those 1024 ancestors. On the other hand, the patrilineal line is important and of interest to people because it reflects their surname origin. Moreover, families in the past married in-group and breeding pools were typically small, so the paternal line can be diagnostic of additional ancestry. Of the saliency of the maternal line, a similar case can be made, as it is often the mother who inculcates religious and cultural values.

The most common complaint from DNA test customers is failure of the company to make results understandable and meaningful to them. This was the No. 1 reason cited for customer dissatisfaction in a June 2006 nationwide telephone survey conducted by Shapiro and Associates. According to an earlier survey, 1 in 6 Americans (18%) said they were aware of the ancestry-tracing capability of a home DNA test but when probed, most knew little about the details, reliability or differences between tests.

A further drawback, at least with autosomal tests, which are proprietary rather than generic, is their present state of imperfection and large margin of error (up to 15%, according to some genomics experts), with significant blind spots such as confusion of Mongolian ancestry with Native American. At the same time, it is unlikely that much progress will be made anytime soon with newer versions of these tests.

Medical information

Though genealogical DNA tests results generally have no informative medical value and do not determine genetic diseases or disorders, there has been a correlation established between a lack of DYS464 markers and infertility, and a correlation between mtDNA haplogroup H and protection from sepsis. Certain haplogroups have been linked to longevity. A more specific test is used for medical purposes, which focuses on a particular gene or set of genes. The field of linkage disequilibrium, unequal association of genetic disorders with a certain mitochondrial lineage, is in its infancy, but those mitochondrial mutations that have been linked are searchable in the genome database http://www.mitomap.org Mitomap. The National Human Genome Research Institute operates a http://www.genome.gov/10000409 Genetic And Rare Disease Information Center (GARD) that can assist consumers in identifying an appropriate screening test and help locate a nearby medical center that offers such.

References and recommended readings

Carmichael, Terrence and Alexander Kuklin (2000). How to DNA Test Our Family Relationships. DNA Press. Early (and still unique) book on adoptions, paternity and other relationship testing. Carmichael is a founder of GeneTree.

Cavalli-Sforza, L. et al (1994). The History and Geography of Human Genes. Princeton: Princeton University Press. Dense but unsurpassed for comprehensiveness.

Cavalli-Sforza, Luigi-Luca and Francesco (1998). The Great Human Diasporas, translated from the Italian by Sarah Thorne. Reading, Mass. : Perseus Books. More readable than the Stanford professor?s other books.

Family Tree Magazine. Leading non-specialist genealogy magazine, reviews genetic genealogy products and companies from time to time.

Fitzpatrick, Colleen and Andrew Yeiser (2005). DNA and Genealogy. Rice Book Press. Highly regarded commentary on news stories about DNA and how-to introduction for laymen.

Gamble, Clive (1993). Timewalkers: The Prehistory of Global Colonization. Stroud: Sutton. Popular account of human prehistory by British anthropologist/archeologist. Article from American Scientist.

Hart, Anne - http://www.newswriting.net/id102.htm Link to books, online articles and videos on genetic genealogy by this journalist and author.

Howells, Cyndi (n.d.). Netting Your Ancestors ? Genealogical Research on the Internet. Baltimore: Genealogical Publishing Company. Indispensable guide to electronic sources by author of Cyndi?s List.

Jobling, M. (2003). Human Evolutionary Genetics. Standard college and graduate school level textbook by leading expert. Pricy.

Kerchner, Charles F. Jr. (2004). http://www.ggdictionary.com Genetic Genealogy DNA Testing Dictionary. By the author. Handy lookup source for esoteric terminology used, e.g., on the email discussion group DNA-Genealogy-L and in testing lab reports.

Olson, Steve (2002). Mapping Human History. Boston: Houghton Mifflin Company. Brisk survey, major population by population.

Oppenheimer, Stephen (2003). The Real Eve. Modern Man?s Journey out of Africa. Carroll & Graf. Champions the ?beachcomber route? theory. Technical detail may be daunting to general readers.

PBS (2003). The Journey of Man DVD. Broadcast aired in January of 2003, Spencer Wells, host.

Panther-Yates, Donald and Elizabeth Caldwell Hirschman (2006). ?DNA Haplotyping and Diversity: An Anthropogenealogical Method for Researching Lineages and Family Ethnicity,? International Journal of the Humanities 2:2043-55. Step-by-step guide to finding matches in world databanks and interpreting genetic information in terms of history and recent emigration studies.

Pomery, Chris (2004) DNA and Family History: How Genetic Testing Can Advance Your Genealogical Research. London: National Archives. One of the first guides for do-it-yourself genealogists.

Savin, Alan (2003). DNA for Family Historians. Maidenhead: Genetic Genealogy Guides. Slim paperback first published in 2000, now available also in German.

Shawker, Thomas H. (2004). Unlocking Your Genetic History: A Step-by-Step Guide to Discovering Your Family's Medical and Genetic Heritage (National Geneological Society Guide, 6). The easiest-to-understand guide to the difficult subject of family medical history and genetic diseases.

Smolenyak, Megan and Ann Turner (2005). Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree. Rodale Books. Newest tool for amateur genealogists by seminar speaker and DNA listserv moderator.

Sykes, Bryan (2004). Adam's Curse. A Future without Men. New York: W. W. Norton. The Oxford professor?s male sequel to The Seven Daughters of Eve. Equally well-written and stimulating as his other book.

Sykes, Bryan (2001) The Seven Daughters of Eve. The Science that Reveals Our Genetic Ancestry. New York, Norton. Names the founders of Europe?s major female haplogroups Helena, Jasmine, Katrine, Tara, Velda, Xenia, and Ursula.

Tagliaferro, Linda (1999). The Complete Idiot?s Guide to Decoding Your Genes. Alpha Books. Uses everyday language to explain the role genes play in shaping who we are. Light on genealogy and a bit outdated.

Wells, Spencer (2004). The Journey of Man. New York: Random House.

See also

External links

Testing comparisons

Haplogroup prediction

Genealogical DNA tests Category:Genetic genealogy DNA tests Genealogical DNA tests Genealogical DNA tests




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