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Genealogical DNA test 1 Genealogical DNA test Part of a series on Genetic genealogy Concepts Population genetics Haplogroup / Haplotype / Subclade Most recent common ancestor DNA haplogroups (Human mitochondrial, Human Y-chromosome) Genomics Related topics Y-chromosome haplogroups by populations Genealogical DNA test Personal genomics Genographic Project A genealogical DNA test looks at a person's genetic code at specific locations. Results give information about genealogy or personal ancestry. Generally, these tests compare the results of an individual to others from the same lineage or to current and historic ethnic groups. The test results are not meant for medical use. They do not determine specific genetic diseases or disorders (see possible exceptions in Medical information below). They are intended only to give genealogical information. Procedure Hospital Corpsman 1st Class uses a swab to take a DNA sample from a Fireman aboard USS Iwo Jima (LHD 7) Taking a genealogical DNA test requires the submission of a DNA sample. This is usually a painless process. The most common way to collect a DNA sample is by a cheek-scraping (also known as a buccal swab). Other methods include spit-cups, mouthwash, and chewing gum. After collection, the sample is mailed to a testing lab. Some laboratories, such as the Human Origins Genotyping Laboratory (HOGL) [1] at the University of Arizona, offer to store DNA samples for ease of future testing. All United States laboratories will destroy the DNA sample upon request by the customer guaranteeing that a sample is not available for further analysis.

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Page 1: Genealogical DNA test · 2013. 4. 7. · Agenealogical DNA test looks at a person'sgenetic code at specific locations. Results give information aboutgenealogy or personal ancestry

Genealogical DNA test 1

Genealogical DNA test

Part of a series on

Genetic genealogyConcepts

•• Population genetics• Haplogroup / Haplotype / Subclade•• Most recent common ancestor• DNA haplogroups

(Human mitochondrial,Human Y-chromosome)

•• Genomics

Related topics

• Y-chromosome haplogroupsby populations

•• Genealogical DNA test•• Personal genomics•• Genographic Project

A genealogical DNA test looks at a person's genetic code at specific locations. Results give information aboutgenealogy or personal ancestry. Generally, these tests compare the results of an individual to others from the samelineage or to current and historic ethnic groups. The test results are not meant for medical use. They do not determinespecific genetic diseases or disorders (see possible exceptions in Medical information below). They are intended onlyto give genealogical information.

Procedure

Hospital Corpsman 1st Class uses a swab to takea DNA sample from a Fireman aboard USS Iwo

Jima (LHD 7)

Taking a genealogical DNA test requires the submission of a DNAsample. This is usually a painless process. The most common way tocollect a DNA sample is by a cheek-scraping (also known as a buccalswab). Other methods include spit-cups, mouthwash, and chewinggum. After collection, the sample is mailed to a testing lab.

Some laboratories, such as the Human Origins Genotyping Laboratory(HOGL) [1] at the University of Arizona, offer to store DNA samplesfor ease of future testing. All United States laboratories will destroy theDNA sample upon request by the customer guaranteeing that a sampleis not available for further analysis.

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Types of testsThere are three types of genealogical DNA tests, autosomal (atDNA), mitochondrial DNA (mtDNA), andY-Chromosome (Y-DNA). Autosomal tests for all ancestry. Y-DNA tests a male along his direct paternal line.mtDNA tests a man or woman along their direct maternal line.Any of these tests can be used to some degree for recent genealogy or for ethnic ancestry.

Autosomal DNA (atDNA)

What gets tested

Generally, a genealogical DNA test might use either autosomal STRs or autosomal SNPs. (STR's are Short TandemRepeats; SNP = single-nucleotide polymorphism.) However, testing companies do not currently offer autosomalSTRs tests that use enough STR markers for genealogy. Some ethnic population matching products use them. Thepreferred choice for both genealogy and ethnic population matching is microarray chips that use hundreds ofthousands of autosomal SNPs.

STRs

Like Y-DNA STRs, autosomal STRs are counts of repeated genetic code. As autosomal DNA recombines eachgeneration, the number of markers shared with a specific ancestor is reduced by half each generation.

SNPs

Like mtDNA and Y-DNA SNPs, autosomal SNPs are changes at a single point in genetic code. Autosomal DNArecombines each generation. Therefore, the number of markers shared with a specific ancestor decreases by half eachgeneration. Most testing companies overcome this by using technologies that include around 700,000 autosomalSNPs.

Matching process

There are currently two types of matching processes used. The first is haploblock matching. This process counts thenumber and size of matching runs of DNA from one point to another. It then computes the likely number ofgenerations between two people. The second method is biogeographical analysis. This method seeks to matchindividual SNP values' frequencies in reference populations to match geographic origins.

Biogeographical ancestry

The theory behind using a forensic profile for ancestry tracing is that the alleles' respective frequency of occurrencedevelops over generations with equal input of the two parents, since for each location we take one value from ourmother and one from our father. It thus serves as a window into a person's total ancestral composition.[2]

As studies from more populations are included, the accuracy of results should improve, leading to a moreinformative picture of one's ancestry.

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SNP based testing

Biogeographical analysis uses scientific methods from population genetics to assign someone to one or morepopulation groups. This is usually done by comparing the frequency of each Autosomal DNA marker tested to manypopulation groups. The reliability of this type of test is dependent on comparative population size, the number ofmarkers tested, the ancestry informative value of the SNPs tested, and the degree of admixture in the person tested.Early tests used only a few dozen autosomal DNA SNPs. Current tests often, like genealogy purposed tests, usearound 700,000 autosomal SNPs.

STR tests

STR analysis measures the frequency of a person's DNA profile within major world regions. This analysis is basedon objectively identified world regions and does not depend on any system of presumed biogeographicclassifications. As most STR analysis examines markers chosen for their high intra-group variation, the utility ofthese particular STR markers to access inter-group relationships may be greatly diminished.

Mitochondrial DNA (mtDNA) testing

Map of human migration out of Africa, according to Mitochondrial DNA.The numbers represent thousands of years before present time. The blueline represents the area covered in ice or tundra during the last great iceage. The North Pole is at the center. Africa, the center of the start of the

migration, is at the top left and South America is at the far right.

A direct maternal ancestor can be traced usingmtDNA. MtDNA is passed down by the motherunchanged, to all children. A perfect match isfound to another person's mtDNA test resultsindicates shared recent ancestry. More distantmatching to a specific haplogroup or subclade maybe linked to a common geographic origin.

Some people cite paternal mtDNA transmission asinvalidating mtDNA testing,[3] but this has not beenfound problematic in genealogical DNA testing,nor in scholarly population genetics studies. See therest of this article.

What gets tested

mtDNA, by current conventions, is divided intothree regions. They are the coding region(00577-16023) and two Hyper Variable Regions(HVR1 [16024-16569], and HVR2 [00001-00576]).[4] All test results are compared to the mtDNA of a European inHaplogroup H2a2a. This early sample is known as the Cambridge Reference Sequence (CRS). A list of singlenucleotide polymorphisms (SNPs) is returned. The relatively few "mutations" or "transitions" that are found are thenreported simply as differences from the CRS, such as in the examples just below.

The two most common mtDNA tests are a sequence of HVR1 and a sequence of both HVR1 and HVR2. SomemtDNA tests may only analyze a partial range in these regions. Some people are now choosing to have a fullsequence performed, to maximize their genealogical help. The full sequence is still somewhat controversial becauseit may reveal medical information.

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Understanding test results

The most basic of mtDNA tests will sequence Hyper Variable Region 1 (HVR1). HVR1 nucleotides are numbered16024-16569.[5]

Examples•• Some test reports might omit the "16" (16nnn) prefix from HVR1 results, i.e. 519C and not 16519C.

Region HVR1 HVR2

Differences from CRS 111T,223T,259T,290T,319A,362C Not Tested

• More extensive tests will also sequence Hyper Variable Region 2 (HVR2). HVR2 nucleotides are numbered00001-00576.[6]

Region HVR1 HVR2

Differences from CRS 111T,223T,259T,290T,319A,362C 073G,146C,153G

Haplogroup

Most results include a prediction of mtDNA Haplogroup.

Evolutionary tree of human mitochondrial DNA (mtDNA) haplogroups

Mitochondrial Eve (L)

L0 L1-6L1 L2 L3 L4 L5 L6

M NCZ D E G Q A S R I W X Y

C Z B F R0 pre-JT P UHV JT K

H V J T

If you belong to a Haplogroup that is distantly related to the CRS, then the prediction may be sufficient. Somecompanies test for specific mutations in the coding region. For large Haplogroups, such as mtDNA Haplogroup H,an extended test is offered to assign a sub-clade.

mtDNA in the news

mtDNA testing was used by University of Leicester archaeologists to verify the skeletal remains of King Richard III,found in September 2012.[7]

Y chromosome (Y-DNA) testingA man's patrilineal ancestry, or male-line ancestry, can be traced using the DNA on his Y chromosome (Y-DNA)through Y-STR testing. This is useful because the Y chromosome passes down almost unchanged from father to son,i.e., the non-recombining and sex-determining regions of the Y chromosome do not change. A man's test results arecompared to another man's results to determine the time frame in which the two individuals shared a most recentcommon ancestor, or MRCA, in their direct patrilineal lines. If their test results are a perfect, or nearly perfect match,they are related within genealogy's time frame.[8]

Each person can then look at the other's father-line information, typically the names of each patrilineal ancestor and his spouse, together with the dates and places of their marriage and of both spouses' births and deaths. This

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information table will be referred to again within the mtDNA testing section below as the (matrilineal) "informationtable". The two matched persons may find a common ancestor or MRCA, as well as whatever information the otheralready has about their joint patrilineal ancestry prior to the MRCA—which might be a big help to one of them.[9] Orif not, both keep trying to extend their patrilineal ancestry further back in time. Each may choose to have their testresults included in their surname's "Surname DNA project". And each receives the other's contact information if theother chose to allow this. They may correspond, and may work together in the future on joint research.[10]

Women who wish to determine their direct paternal DNA ancestry can ask their father, brother, paternal uncle,paternal grandfather, or a cousin who shares a common patrilineal ancestry (the same Y-DNA) to take a test forthem.

What gets tested

Y-DNA testing involves looking at STR segments of DNA on the Y chromosome. The STR segments which areexamined are referred to as genetic markers and occur in what is considered "junk" DNA.

STR markers

A Y-chromosome contains sequences of repeating nucleotides known as short tandem repeats (STRs). The numberof repetitions varies from one person to another and a particular number of repetitions is known as an allele of themarker. Individual Y-DNA sequences or STRs which have proved useful in genealogical DNA work are calledmarkers, and each has a name, such as DYS393 in the following example. (Names are assigned by the HUGO GeneNomenclature Committee, and DYS means Y-DNA unique Sequence [or Segment] while 393 is this sequence'sunique identification number – its identifier.)[11] This example states that the allele of Rumpelstiltskin's DYS393marker is 12, also called the marker's "value". The value 12 means the DYS393 sequence of nucleotides is repeated12 times—with a DNA sequence of (AGAT)12.

SNP markers

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Strand 1 differs from strand 2 at a single base pair location (a C → Tpolymorphism).

A single-nucleotide polymorphism (SNP) is a changeto a single nucleotide in a DNA sequence. The relativemutation rate for an SNP is extremely low. This makesthem ideal for marking the history of the human genetictree. SNPs are named with a letter code and a number.The letter indicates the lab or research team thatdiscovered the SNP. The number indicates the order inwhich it was discovered. For example, M173 is the173rd SNP documented by the Human PopulationGenetics Laboratory at Stanford University, which usesthe letter M.

Understanding test results

Y-DNA tests generally examine 10-67 STR markers onthe Y chromosome, but over 100 markers are available.STR test results provide the personal haplotype. SNPresults indicate the haplogroup.

Haplotype

A Y-DNA haplotype is the numbered results of agenealogical Y-DNA test. Each allele value has adistinctive frequency within a population. For example, at DYS455, the results will show 8, 9, 10, 11 or 12 repeats,with 11 being most common.[12] For high marker tests the allele frequencies provide a signature for a surnamelineage.

Kit Surname Haplo 393

390

19

391

385a

385b

426

388

439

389-1

392

389-2

458

459a

459b

455

454

447

437

448

449

464a

464b

464c

464d

11111 Rumpelstiltskin Q 12 23 13 10 16 17 12 12 13 14 14 31 18 8 9 11 11 27 13 19 28 14 14 15 15

The test results are then compared to another project member's results to determine the time frame in which the twopeople shared a most recent common ancestor (MRCA). If the two tests match perfectly on 111 markers formembers with the same surname, there is a 50% probability that the MRCA was fewer than 2 generations ago, 90%probability that it was fewer than 4 generations ago, and 95% probability it was fewer than 5 generations ago.[13]

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Kit Surname Haplo 393

390

19

391

385a

385b

426

388

439

389-1

392

389-2

458

459a

459b

455

454

447

437

448

449

464a

464b

464c

464d

11111 Rumpelstiltskin Q 12 23 13 10 16 17 12 12 13 14 14 31 18 8 9 11 11 27 13 19 28 14 14 15 15

11178 Rumpelstiltskin Q 12 23 13 10 16 17 12 12 13 14 14 31 18 8 9 11 11 27 13 19 28 14 14 15 15

Before choosing a test, it is important for an individual to check the number of markers that will be tested. Forexample, the Genographic Project looks at only 12 markers, while most laboratories and surname projectsrecommend testing at least 25. The more markers that are tested, the more discriminating and powerful the resultswill be. A 12-marker STR test is usually not discriminating enough to provide conclusive results for a commonsurname.STRs results may also indicate a likely haplogroup, though this can only be confirmed by specifically testing for thatHaplogroups' single-nucleotide polymorphisms (SNPs).

Haplogroup

Y-DNA-haplogroups in Europe

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

Evolutionary tree of human Y-chromosome DNA (Y-DNA)haplogroups

MRC Y-ancestor

A0 A1

A1a A1b

A1b1 BT

B CT

DE CF

D E C F

G H IJK

IJ K

I J LT K(xLT)

L T M NO P S

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Genealogical DNA test 8

N O Q R

•• Y-DNA by populations•• Famous Y-DNA haplotypes

Y-DNA haplogroups are determined by SNP tests. SNPs are locations on the DNA where one nucleotide has"mutated" or "switched" to a different nucleotide. The nucleotide switch must occur in at least 1% of the populationto be considered a useful SNP. If it occurs in less than 1% of the population, it is considered a personal (or private)SNP.

Haplogroup prediction

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

Y-STR markers 385a

385b

388

389i

389ii

390

391

392

393

394

426

437

439

447

448

449

454

455

458

459a

459b

464a

464b

464c

464d

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 todetermine 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 in the known modal haplotype for G shown above.

AudienceThe interest in genealogical DNA tests has been linked to both an increase in curiosity about traditional genealogyand to more general personal origins. Those who test for traditional genealogy often utilize a combination ofautosomal, mitochondrial, and Y-Chromosome tests. Those with an interest in personal ethnic origins are more likelyto use an autosomal test. However, answering specific questions about the ethnic origins of a particular lineage maybe best suited to an mtDNA test or a Y-DNA test.

Maternal origin testsFor recent genealogy, exact matching on the mtDNA full sequence is used to confirm a common ancestor on thedirect maternal line between two suspected relatives. Because mtDNA mutations are very rare, a nearly perfectmatch is not usually considered relevant to the most recent 1 to 16 generations.[14] In cultures lacking matrilinealsurnames to pass down, neither relative above is likely to have as many generations of ancestors in their matrilinealinformation table as in the above patrilineal or Y-DNA case: for further information on this difficulty in traditionalgenealogy, due to lack of matrilineal surnames (or matrinames), see Matriname.[15] However, the foundation oftesting is still two suspected descendants of one person. This hypothesize and test DNA pattern is the same one usedfor autosomal DNA and Y-DNA.

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Geographic origin tests

European genetic structure (based on AutosomalSNPs) by PCA

Autosomal tests that test the recombining chromosomes are available.These attempt to measure an individual's mixed geographic heritage byidentifying particular markers, called ancestry informative markers orAIM, that are associated with populations of specific geographicalareas. The tests' validity and reliability have been called into questionbut they continue to be popular.[16][17] Anomalous findings most oftenresult from databases too small to associate markers with all the areaswhere they occur in indigenous populations.

United States

Because of its history of immigration, slavery, and significantindigenous peoples, people of the United States have been interested in using genealogical DNA studies to help themlearn more about their ancestry.

United States - Native American ancestry

Autosomal testing, Y-DNA, and mtDNA testing can be conducted to determine Amerindian ancestry. Amitochondrial Haplogroup determination test based on mutations in Hypervariable Region 1 and 2 may establishwhether a person's direct female line belongs to one of the canonical Native American Haplogroups, A, B, C, D or X.If one's DNA belonged to one of those groups, the implication would be that he or she is, in whole or part, NativeAmerican.As political entities, tribes have established their own requirements for membership, often based on at least one of aperson's ancestors having been included on tribal-specific Native American censuses (or final rolls) prepared duringtreaty-making, relocation to reservations or apportionment of land in the late 19th century and early 20th century.One example is the Dawes Rolls. In addition, the U.S. government does not consider DNA as admissible evidencefor enrollment in any federally recognized tribe or reception of benefits. Tribes are political constructs, not geneticpopulations.The vast majority of Native American individuals do belong to one of the five identified mtDNA Haplogroups.Many Americans are just discovering they have some percentage of Native ancestry. Some attempt to validate theirheritage with the goal of gaining admittance into a tribe, but most tribes do not use DNA results in that way. Thesetests may be useful for adoptees to discover Native American ancestry.

United States - African ancestry

Y-DNA and mtDNA testing may be able to determine with which peoples in present-day African country a personshares a direct line of part of his or her ancestry, but patterns of historic migration and historical events cloud thetracing of ancestral groups. Testing company African Ancestry[18] maintains an "African Lineage Database" ofAfrican lineages from 30 countries and over 160 ethnic groups. Due to joint long histories in the US, approximately30% of African American males have a European Y-Chromosome haplogroup[19] Approximately 58% of AfricanAmericans have the equivalent of one great-grandparent (12.5 percent) of European ancestry. Only about 5% havethe equivalent of one great-grandparent of Native American ancestry. By the early 19th century, substantial familiesof Free Persons of Color had been established in the Chesapeake Bay area who were descended from people freeduring the colonial period; most of those have been documented as descended from white men and African women(servant, slave or free). Over time various groups married more within mixed-race, black or white communities.[20]

According to authorities like Salas, nearly three-quarters of the ancestors of African Americans taken in slavery came from regions of West Africa. The African-American movement to discover and identify with ancestral tribes has burgeoned since DNA testing became available. Often members of African-American churches take the test as

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groups.[citation needed] African Americans cannot easily trace their ancestry during the years of slavery throughsurname research, census and property records, and other traditional means. Genealogical DNA testing may providea tie to regional African heritage.

United States - Melungeon testing

Melungeons are one of numerous multiracial groups in the United States with origins wrapped in myth. Thehistorical research of Paul Heinegg has documented that many of the groups in the Upper South were descendedfrom mixed-race people who were free in colonial Virginia and descended from unions between the Europeans andAfricans. They moved to the frontiers of Virginia, North Carolina, Kentucky and Tennessee to gain some freedomfrom the racial barriers of the plantation areas.[21] Several efforts, including a number of ongoing studies, haveexamined the genetic makeup of families historically identified as Melungeon. Most results point primarily to amixture of European and African, which is supported by historical documentation. Some may have a very smallamount of Native American lineages (none in one study). Though some companies provide additional Melungeonresearch materials with Y-DNA and mtDNA tests, any test will allow comparisons with the results of current andpast Melungeon DNA studies.

Cohanim ancestry

The Cohanim (or Kohanim) is a patrilineal priestly line of descent in Judaism. According to the Bible, the ancestorof the Cohanim is Aaron, brother of Moses. Many believe that descent from Aaron is verifiable with a Y-DNA test:the first published study in genealogical Y-Chromosome DNA testing found that a significant percentage of Cohenshad distinctively similar DNA, rather more so than general Jewish or Middle Eastern populations. These Cohenstended to belong to Haplogroup J, with Y-STR values clustered unusually closely around a haplotype known as theCohen Modal Haplotype (CMH). This could be consistent with a shared common ancestor, or with the hereditarypriesthood having originally been founded from members of a single closely related clan.Nevertheless, the original studies tested only six Y-STR markers, which is considered a low-resolution test. Such atest does not have the resolution to prove relatedness, nor to estimate reliably the time to a common ancestor. TheCohen Modal Haplotype (CMH), while notably frequent among Cohens, also appears in the general populations ofhaplogroups J1 and J2 with no particular link to the Cohen ancestry. So while many Cohens have haplotypes close tothe CMH, many more of such haplotypes worldwide belong to people with no likely Cohen connection at all.According to researchers (Hammer), it is only the CMH that is found in J1 that is to be attributed to the Aaronlineage, not the CMH in J2. Jews with the CMH in both J1 and J2 cannot all be descended from one man who livedapproximately 3,300 years ago, because J1 diverged from J2 10,000 years ago.Resolution may be increased by the testing of more than six Y-STR markers. For some, this could help to establishrelatedness to particular recent Cohen clusters. For many, the testing is unlikely to distinguish definitively sharedCohen ancestry from that of the more general population distribution. So far no published research indicates whatextended Y-STR haplotype distributions appear to be characteristic of Cohens.Although some high-resolution testing has been done, to date the results have not been released.

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European testing

For people with European maternal ancestry, mtDNA tests are offered to determine which of eight Europeanmaternal "clans" the direct-line maternal ancestor belonged to. This mtDNA haplotype test was popularized in thebook The Seven Daughters of Eve.SNP testing may enable mostly European individuals to determine to which Sub-European population they belong:•• Northern European subgroup (NOR) - mostly Northern and Southwestern European•• Southeastern European (Mediterranean) subgroup (MED) - mostly Southeastern Europeans (Greeks, Albanians 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

The 49 established gotras are clans or families whose members trace their descent to a common ancestor, usually asage of ancient times. The gotra proclaims a person's identity and a "gotra-pravara" is required to be presented atHindu ceremonies. People of the same gotra are not allowed to marry.One company says it can use a 37-marker Y-DNA test to "verify genetic relatedness and historical gotra genealogiesfor Hindu and Buddhist engagements, marriages and business partnerships." This has not been supported byindependent research. Any Y-DNA test can be used to compare results with another person whose gotra is known.

BenefitsGenealogical DNA tests have become popular due to the ease of testing at home and their supplementinggenealogical research. Genealogical DNA tests allow for an individual to determine with high accuracy whether heor she is related to another person within a certain time frame, or with certainty that he or she is not related. DNAtests are perceived as more scientific, conclusive and expeditious than searching the civil records. But, they arelimited by restrictions on lines which may be studied. The civil records are always only as accurate as the individualswho provided or wrote the information.The aforementioned Y-DNA testing results are normally stated as probabilities: For example, with the same surnamea perfect 37/37 marker test match gives a 95% likelihood of the most recent common ancestor (MRCA) being within8 generations,[22] while a 111 of 111 marker match gives the same 95% likelihood of the MRCA being within only 5generations back.[13]

As presented above in mtDNA testing, if a perfect match is found, the mtDNA test results can be helpful. In somecases, research according to traditional genealogy methods encounters difficulties due to the lack of regularlyrecorded matrilineal surname information in many cultures.(see Matrilineal surname).[15]

DrawbacksCommon concerns about genealogical DNA testing are cost and privacy issues (some testing companies retainsamples and results for their own use without a privacy agreement with subjects). The most common complaint fromDNA test customers is the failure of the company to make results understandable to them.DNA tests can do some things well, but there are constraints. Testing of the Y-DNA lineage from father to son mayreveal complications, due to unusual mutations, secret adoptions, and false paternity (i.e., the father in onegeneration is not the father in birth records). According to some genomics experts, autosomal tests may have amargin of error up to 15% and blind spots.[citation needed]

Some users have recommended that there be government or other regulation of ancestry testing to ensure morestandardization.[23]

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Medical informationThough genealogical DNA test results generally have no informative medical value and are not intended todetermine genetic diseases or disorders, a correlation exists between a lack of DYS464 markers and infertility, andbetween mtDNA haplogroup H and protection from sepsis. Certain haplogroups have been linked tolongevity.[24]WP:NOTRSWikipedia:Identifying reliable sourcesThe testing of full mtDNA sequences is still somewhat controversial as it may reveal medical information. The fieldof linkage disequilibrium, unequal association of genetic disorders with a certain mitochondrial lineage, is in itsinfancy, but those mitochondrial mutations that have been linked are searchable in the genome database Mitomap.[25]

The National Human Genome Research Institute operates the Genetic And Rare Disease Information Center[26] thatcan assist consumers in identifying an appropriate screening test and help locate a nearby medical center that offerssuch a test.

DNA in genealogy softwareSome genealogy software programs now allow recording DNA marker test results, allowing for tracking of bothY-chromosome and mtDNA tests, and recording results for relatives. DNA-family tree wall charts are available.

References[1] http:/ / hogl. arl. arizona. edu[2] Balding, D.J. et al., eds. (2001). Handbook of Statistical Genetics, New York: Wiley[3] for example: M. Pickford, "Paradise lost: Mitochondrial eve refuted" (http:/ / www. springerlink. com/ content/ mv5812037q10u886/ ),

SpringerLink, July 2006[11] ftdna.com (kept uptodate). http:/ / www. familytreedna. com/ faq/ answers/ default. aspx?faqid=9#961 "FAQ: What do the DYS ... STR

names mean?" Retrieved 2012-01-13.[13] ftdna.com (kept uptodate). http:/ / www. familytreedna. com/ faq/ answers/ default. aspx?faqid=9#925 "FAQ: ...how should the genetic

distance at 111 Y-chromosome STR markers be interpreted?" Retrieved 2012-01-13.[15] Sykes, Bryan (2001). The Seven Daughters of Eve. W. W. Norton. ISBN 0-393-02018_5, pp. 291-92. Sykes discusses the difficulty in

genealogically tracing a maternal lineage, due to the lack of matrilineal surnames (or matrinames).[16] Bolnick, DA et al. The Science and Business of Genetic Ancestry Testing. (http:/ / dirkschweitzer. net/ E3b-papers/

Science-0710-Bolnick-1. pdf) Science: Vol 318, 19 October 2007[17] Frudakis, T. The Legitimacy of Genetic Ancestry Tests. (http:/ / hum. utah. edu/ ~bbenham/ 2510 Spring 09/ race and population genetics/

Frudakis-LegitAncestryTests_Science2008. pdf) Science: Vol 319, 22 February 2008[20] Paul Heinegg, Free African Americans of Virginia, North Carolina, South Carolina, Maryland and Delaware (http:/ / www.

freeafricanamericans. com/ ), accessed 15 Feb 2008[21] Paul Heinegg, Free African Americans of Virginia, North Carolina, South Carolina, Maryland and Delaware (http:/ / www.

freeafricanamericans. com/ ), accessed 15 Feb 2008[22] ftdna.com (kept uptodate). http:/ / www. familytreedna. com/ faq/ answers/ default. aspx?faqid=9#922 "FAQ: ...how should the genetic

distance at 37 Y-chromosome STR markers be interpreted?" Retrieved 2012-01-13.[23] Lee et al., "The Illusive Gold Standard in Genetic Ancestry Testing", Science 3, July 2009: 38-39

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Genealogical DNA test 13

Further reading• Anne Hart; Anne Hart M a (April 2004). How to Interpret Family History and Ancestry DNA Test Results for

Beginners (http:/ / books. google. com/ books?id=7-Jg8CjzENMC& pg=PP1). iUniverse.ISBN 978-0-595-31684-7.

• Megan Smolenyak; Ann Turner (12 October 2004). Trace your roots with DNA: using genetic tests to exploreyour family tree (http:/ / books. google. com/ books?id=J9evrYLpDVEC& pg=PP1). Rodale.ISBN 978-1-59486-006-5.

• Chris Pomery; Steve Jones (1 October 2004). DNA and family history: how genetic testing can advance yourgenealogical research (http:/ / books. google. com/ books?id=Kzv0vp6KdbgC& pg=PP1). Dundurn Press Ltd.ISBN 978-1-55002-536-1.

External linksTutorials• Tutorial for Y-DNA STR tests (http:/ / www. familytreedna. com/ faq/ answers. aspx?id=9) (phrased as FAQs)• Tutorial for Y-DNA SNP tests (http:/ / www. familytreedna. com/ faq/ answers. aspx?id=26) (also as FAQs)• Tutorial for mtDNA tests (http:/ / www. familytreedna. com/ faq/ answers. aspx?id=10) (as FAQs)Societies• International Society for Genetic Genealogy (http:/ / www. isogg. org)Foundations and research projects• The National Geographic Genographic Project (http:/ / www. nationalgeographic. com/ genographic)• Sorenson Molecular Genealogy Foundation (http:/ / www. smgf. org) A wholly owned subsidiary of SorensonSTR converters• Conversion Chart for Male Haplogroups (http:/ / dnaconsultants. com/ images/ links/ 49-conversion. pdf) (PDF)Information and Maps on Y-DNA haplogroups• Y-haplogroups World Map (http:/ / www. scs. uiuc. edu/ ~mcdonald/ WorldHaplogroupsMaps. pdf#pref)• Y-Haplogroups brief descriptions and regional origins (http:/ / www. roperld. com/ YBiallelicHaplogroups.

htm#pref)• Y-DNA Ethnographic and Genographic Atlas and Open-Source Data Compilation (http:/ / dna. xyvy. info)External• AncestryDNA (http:/ / dna. ancestry. com/ ) Your genetic ethnicity is the story of your family

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Article Sources and Contributors 14

Article Sources and ContributorsGenealogical DNA test  Source: http://en.wikipedia.org/w/index.php?oldid=542672889  Contributors: 7434be, APayan, Abonet, Ambivaline, Andrew Lancaster, AnonUser, Apers0n, Archivesguy, Artgen, Beno1000, Betswiki, Bloodshedder, Blueil77, Bobblehead, Bobo192, Brianann MacAmhlaidh, Brout8, CTF83!, Calebross, Caltrop, Carstensen, Celefin, Cfkerchner, Chaser,ChrisTi, Ck3894, Cmcnicoll, Cr7i, DNAwoman, Daffyd, Dahliarose, David8800, DavidFarmbrough, Dawn Bard, Dcirovic, Ddsummers, DeXXus, Debresser, Dferguson, Dfoy, Dogru144,Donald941, Donpanther, Dougweller, Drunken Pirate, Dysmorodrepanis, Embryomystic, Emuchick, EnochBethany, Eregli bob, For7thGen, Forluvoft, Fratrep, Geneticgenealogist, GeorgeChurch, Giftlite, Gioto, Giraffedata, GraemeL, Gwicky, Gypsydoctor, H2g2bob, Headbomb, HeritageSupport, Hmains, Hu12, Hughcharlesparker, Icedtay88, Ilyanikolayev, Iridescent,IrishHermit, Jack007, Jamiesongj, Jayjg, Jazzeur, Jeffmcneill, Jennies Creekmanite, Jheald, Jim1138, Jlick, Jlma ad, Johnraciti, Johnuniq, JonHarder, Joseph Solis in Australia, Jósuedavid,Kazi2000, Keithh, Kenif, Kerotan, Koobmeej, Ksn, KuroiShiroi, LUKA POPOVIC1980, Leevanjackson, MCTales, MER-C, Macanxiety, ManekiNeko, Maproom, Marketing250, MattieTK,Mayflies, Mindmatrix, Moxy, Mspeed, Nagelfar, Nicolas Perrault III, Nonexistant User, Noteble, Nunh-huh, Parkwells, Perstar, Philip Trueman, Pigman, Psmith77, Pwaldron, RadioBroadcast,RebekahThorn, RedHillian, Reinyday, Rich Farmbrough, Rjwilmsi, Rror, Rune.welsh, Ryantcook, SBWiredale, Saforrest, Severa, Shawnc, Slakr, Stevertigo, TestPilot, Tewapack, The GiantPuffin, Thetableist, ThuranX, TimVickers, Titodutta, Tkbwik, Trilobite, Triona, Tstrobaugh, Uncle Kitia, Utopian100, Vineviz, Vonuan, WereSpielChequers, Wkboonec, Woodsrock,Woohookitty, Yom, Z.t.hudson, Zagorsk, 274 anonymous edits

Image Sources, Licenses and ContributorsFile:Cotton-Swab-Cheek-090105-N-5681S-008.jpg  Source: http://en.wikipedia.org/w/index.php?title=File:Cotton-Swab-Cheek-090105-N-5681S-008.jpg  License: Public Domain Contributors: Mass Communication Specialist 2nd Class Michael StarkeyFile:Map-of-human-migrations.jpg  Source: http://en.wikipedia.org/w/index.php?title=File:Map-of-human-migrations.jpg  License: GNU Free Documentation License  Contributors: 84user,AnRe photography, ArachanoxReal, Atamari, Aude, Avsa, Cwbm (commons), DEm, DieBuche, Dudley Miles, Eleassar, Exsabuta, Fabartus, Glenn, Ies, JMCC1, Joey-das-WBF, Kintetsubuffalo,Noisy, Paulmallet, Phirosiberia, Ranveig, VIGNERON, W!B:, Zemant, 14 anonymous editsFile:dna-SNP.svg  Source: http://en.wikipedia.org/w/index.php?title=File:Dna-SNP.svg  License: Creative Commons Attribution 2.5  Contributors: David Hall (Gringer)File:Haplogroups europe.png  Source: http://en.wikipedia.org/w/index.php?title=File:Haplogroups_europe.png  License: Public domain  Contributors: selbst erstellt Robertius. Original uploaderwas Robertius at de.wikipediaFile:European genetic structure (based on SNPs) PC analysis.png  Source: http://en.wikipedia.org/w/index.php?title=File:European_genetic_structure_(based_on_SNPs)_PC_analysis.png License: Creative Commons Attribution 2.5  Contributors: ChrisTi, Daniel Mietchen, Masur

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