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Genealogical DNA Test

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Genealogical DNA test



 
 
A genealogical DNA test examines the nucleotide
Nucleotide

Nucleotides are molecules that comprise the structural units of RNA and DNA. Additionally, nucleotides play central roles in metabolism. In that capacity, they serve as sources of chemical energy , participate in cell signaling , and are incorporated into important cofactors of enzymatic reactions ....
s at specific locations on a person's DNA
DNA

Deoxyribonucleic acid is a nucleic acid that contains the genetics instructions used in the development and functioning of all known living organisms and some viruses....
 for genetic genealogy
Genetic genealogy

Genetic genealogy is the application of genetics to Genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals....
 purposes. The test results are not meant to have any informative medical value and do not determine specific genetic diseases or disorders (see possible exceptions in Medical information below); they are intended only to give genealogical information. Genealogical DNA tests generally involve comparing the results of living individuals as opposed to obtaining samples from deceased people.

general procedure for taking a genealogical DNA test involves taking a painless cheek-scraping (also known as a buccal swab) at home and mailing the sample to a genetic genealogy laboratory for testing.






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A genealogical DNA test examines the nucleotide
Nucleotide

Nucleotides are molecules that comprise the structural units of RNA and DNA. Additionally, nucleotides play central roles in metabolism. In that capacity, they serve as sources of chemical energy , participate in cell signaling , and are incorporated into important cofactors of enzymatic reactions ....
s at specific locations on a person's DNA
DNA

Deoxyribonucleic acid is a nucleic acid that contains the genetics instructions used in the development and functioning of all known living organisms and some viruses....
 for genetic genealogy
Genetic genealogy

Genetic genealogy is the application of genetics to Genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals....
 purposes. The test results are not meant to have any informative medical value and do not determine specific genetic diseases or disorders (see possible exceptions in Medical information below); they are intended only to give genealogical information. Genealogical DNA tests generally involve comparing the results of living individuals as opposed to obtaining samples from deceased people.

Procedure

The general procedure for taking a genealogical DNA test involves taking a painless cheek-scraping (also known as a buccal swab) at home and mailing the sample to a genetic genealogy laboratory for testing. Some laboratories use mouth wash or chewing gum
Chewing gum

Chewing gum is a type of confection traditionally made of chicle, a natural latex product, or synthetic rubber. For reasons of economy and quality, many modern chewing gums use rubber instead of chicle....
 instead of cheek swabs. Some laboratories, such as the at the University of Arizona
University of Arizona

The University of Arizona is a land-grant and Space grant colleges Public university institution of higher education and research located in Tucson, Arizona, United States....
, 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.

Types of tests

The most popular ancestry tests are Y chromosome (Y-DNA) testing and mitochondrial DNA (mtDNA) testing. Other tests attempt to determine a person's comprehensive genetic history and/or ethnic origins.

Y chromosome (Y-DNA) testing

A man's paternal ancestry can be traced using the DNA on his Y chromosome
Y chromosome

The Y chromosome is the Sex-determination system chromosome in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testicle development, thus determining sex....
 (Y-DNA) through Y-STR
Y-STR

A Y-STR is a short tandem repeat on the Y chromosome. Y-STRs are often designated by DYS .Y-STRs are often used in genealogical DNA testing....
 testing. This is useful because the Y chromosome, like many European surname
Surname

A surname is a name added to a given name and is part of a personal name. In many cases a surname is a family name; the family-name meaning first appeared in 1375....
s, passes from father to son, and can be used to help study surnames
Surname project

A surname project is a genetic genealogy project which uses genealogical DNA tests to trace male lineage.Because surnames are passed down from father to son in many cultures, and Y-chromosomes are passed from father to son with a predictable rate of mutation, people with the same surname can use genealogical DNA testing to determine if the...
. 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.

What gets tested

Y-DNA testing involves looking at segments of DNA on the Y chromosome (found only in males). The segments which are examined are referred to as genetic marker
Genetic marker

A genetic marker is a gene or DNA sequence with a known location on a chromosome and associated with a particular gene or trait. It can be described as a variation, which may arise due to mutation or alteration in the genomic loci, that can be observed....
s and occur in what is considered "junk" DNA
Junk DNA

In evolutionary biology and molecular biology, junk DNA is a provisional label for the portions of the DNA sequence of a chromosome or a genome for which no Function has been identified....
.

STR markers
A chromosome contains sequences of repeating nucleotides known as short tandem repeat
Short tandem repeat

A short tandem repeat in DNA is a class of polymorphism that occurs when a pattern of two or more nucleotides are repeated and the repeated sequences are directly adjacent to each other....
s (STRs). The number of repetitions varies from one person to another and a particular number of repetitions is known as an allele
Allele

An allele is one member of a pair or series of different forms of a gene. Usually alleles are coding region, but sometimes the term is used to refer to a junk DNA....
 of the marker. An STR on the Y chromosome is designated by a DYS number
DYS (DNA)

DYS is short for DNA Y-chromosome Segment, and is used to designate a segment of DNA on the Y chromosome where a sequence of nucleotides repeats....
 (DNA Y-chromosome Segment number). The example below shows the allele of Rumpelstiltskin's DYS393 marker is 12. That means that sequence of nucleotides repeats 12 times -- with a DNA sequence of [AGAT]12.

SNP markers
An SNP
Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
 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. SNPs are named with a letter code and a number. The letter indicates the lab or research team that discovered the SNP. The number indicates the order in which it was discovered. For example M173 is the 173rd SNP documented by the group who uses the letter M.

Understanding test results

Y-DNA tests generally examine 10-67 STR markers on the Y chromosome but over 100 markers are available. STR test results provide the personal haplotype
Haplotype

The term haplotype is a contraction of the term "Ploidy genotype." In genetics, a haplotype is a combination of alleles at multiple locus that are transmitted together on the same chromosome....
. SNP results indicate the haplogroup
Human Y-chromosome DNA haplogroups

In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-genetic recombination portions of DNA from the Y chromosome ....
.

Haplotype

A Y-DNA haplotype
Haplotype

The term haplotype is a contraction of the term "Ploidy genotype." In genetics, a haplotype is a combination of alleles at multiple locus that are transmitted together on the same chromosome....
 is the numbered results of a genealogical Y-DNA test. Each allele
Allele

An allele is one member of a pair or series of different forms of a gene. Usually alleles are coding region, but sometimes the term is used to refer to a junk DNA....
 value has a distinctive frequency within a population. For example, at DYS455
List of DYS markers

The following list of DYS markers are commonly used in genealogical DNA testing.#DYS454 is the least diverse, and multi-copy marker #DYS464 is the most diverse Y-STR marker....
, the results will show 8, 9, 10, 11 or 12 repeats, with 11 being most common. For high marker tests the allele
Allele

An allele is one member of a pair or series of different forms of a gene. Usually alleles are coding region, but sometimes the term is used to refer to a junk DNA....
 frequencies provide a signature for a surname lineage
Patrilineality

Patrilineality is a system in which one belongs to one's father's lineage; it generally involves the inheritance of property, names or titles through the male line as well....
.
Kit Surname Haplo3
9
3

 
3
9
0

 
1
9


 
3
9
1

 
3
8
5
a

3
8
5
b

4
2
6

 
3
8
8

 
4
3
9

 
3
8
9
-
1
3
9
2

 
3
8
9
-
2
4
5
8

 
4
5
9
a

4
5
9
b

4
5
5

 
4
5
4

 
4
4
7

 
4
3
7

 
4
4
8

 
4
4
9

 
4
6
4
a

4
6
4
b

4
6
4
c

4
6
4
d

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
Surname project

A surname project is a genetic genealogy project which uses genealogical DNA tests to trace male lineage.Because surnames are passed down from father to son in many cultures, and Y-chromosomes are passed from father to son with a predictable rate of mutation, people with the same surname can use genealogical DNA testing to determine if the...
 member's results to determine the time frame in which the two people shared a most recent common ancestor
Most recent common ancestor

In genetics, the most recent common ancestor of any set of organisms is the most recent individual from which all organisms in the group are directly Common descent....
 (MRCA). If the two tests match on 37 markers, there is a 50% probability that the MRCA was fewer than 5 generations ago and a 90% probability that the MRCA was fewer than 17 generations ago.
Kit Surname Haplo3
9
3

 
3
9
0

 
1
9


 
3
9
1

 
3
8
5
a

3
8
5
b

4
2
6

 
3
8
8

 
4
3
9

 
3
8
9
-
1
3
9
2

 
3
8
9
-
2
4
5
8

 
4
5
9
a

4
5
9
b

4
5
5

 
4
5
4

 
4
4
7

 
4
3
7

 
4
4
8

 
4
4
9

 
4
6
4
a

4
6
4
b

4
6
4
c

4
6
4
d

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
It is important to check the number of markers that will be tested before choosing a test. For example, the Genographic Project
The Genographic Project

The Genographic Project, launched in April 2005, is a five-year genetic anthropology study that aims to map historical human Historical migration patterns by collecting and analyzing DNA samples from hundreds of thousands of people from around the world....
 looks at only 12 markers, while most laboratories and surname project
Surname project

A surname project is a genetic genealogy project which uses genealogical DNA tests to trace male lineage.Because surnames are passed down from father to son in many cultures, and Y-chromosomes are passed from father to son with a predictable rate of mutation, people with the same surname can use genealogical DNA testing to determine if the...
s recommend testing at least 25. The more markers that are tested, the more discriminating and powerful the results will be. A 12 marker STR test is usually not discriminating enough to provide conclusive results for a common surname.

STRs results may also indicate a likely haplogroup
Human Y-chromosome DNA haplogroups

In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-genetic recombination portions of DNA from the Y chromosome ....
, though this can only be confirmed by specifically testing for that Haplogroups' single nucleotide polymorphism
Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
s (SNPs).

Haplogroup

Haplogroups
Human Y-chromosome DNA haplogroups

In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-genetic recombination portions of DNA from the Y chromosome ....
 are large groups of haplotype
Haplotype

The term haplotype is a contraction of the term "Ploidy genotype." In genetics, a haplotype is a combination of alleles at multiple locus that are transmitted together on the same chromosome....
s that can be used to define genetic populations and are often geographically oriented. Y-DNA haplogroups are determined by SNP
Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
 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 population to be considered a useful SNP. If it occurs in less than 1% of the population, it is considered a personal SNP.

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

In human genetics, Haplogroup G is a Y-chromosome haplogroup. It is a branch of Haplogroup F . Haplogroup G appears to have arisen in the Caucasus region during the Ice Age, about 30,000 years ago....
. For example, Haplogroup G has a known modal haplotype:
DYS markers3
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 values141412122922101114151116112321311111169912131314
Few haplotypes will exactly match the modal values for Haplogroup G. One can consult an allele frequency
Allele frequency

Allele frequency is the number of copies of a particular allele divided by the number of copies of all alleles at the genetic place in a population....
 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


A Bayes classifier
Naive Bayes classifier

A naive Bayes classifier is a term in Bayesian statistics statistics dealing with a simple probabilistic Classifier based on applying Bayes' theorem with strong statistical independence assumptions....
 to predict the haplogroup probabilities for an observed haplotype is available on the web: [https://home.comcast.net/~hapest5/index.html Whit Athey Haplogroup Predictor].

Mitochondrial DNA (mtDNA) testing

Map of Human Migrations
A person's maternal ancestry can be traced using his or her mitochondrial DNA
Mitochondrial DNA

Mitochondrial DNA is the DNA located in organelles called mitochondrion. Most other DNA present in eukaryotic organisms is found in the cell nucleus....
 (mtDNA). The DNA in the human mitochondria
Human mitochondrial genetics

Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
 is passed down by the mother unchanged. One exception, which was linked to infertility, has been shown. Additionally, some people cite paternal mtDNA transmission
Paternal mtDNA transmission

In Mitochondrial genetics, paternal mtDNA transmission and paternal mtDNA inheritance refer to the incidence of paternal mitochondrial DNA being passed on to offspring....
 as invalidating mtDNA testing, but this is not considered problematic in scholarly population genetics studies or genetic genealogy.

What gets tested

mtDNA by current conventions is divided into three regions. They are the coding region and two Hyper Variable Regions (HVR1 and HVR2). All test results are compared to the mtDNA of a Europe
Europe

Europe is, conventionally, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally divided from Asia to its east by the water divide of the Ural Mountains, the Ural , the Caspian Sea, and by the Caucasus Mountains to the southeast....
an in Haplogroup H2a2. This sample is known as the Cambridge Reference Sequence
Cambridge Reference Sequence

The Cambridge Reference Sequence for human mitochondrial DNA was first published in 1981 leading to the initiation of the human genome project....
 (CRS). A list of single nucleotide polymorphism
Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
s (SNPs) is returned. 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). The two most common mtDNA tests are a sequence of HVR1 and a sequence of both HVR1 and HVR2. Some people are now choosing to have a full sequence performed. This is still somewhat controversial as it may reveal medical information.

Understanding test results

The most basic of mtDNA tests will sequence Hyper Variable Region 1 (HVR1). HVR1 nucleotide
Nucleotide

Nucleotides are molecules that comprise the structural units of RNA and DNA. Additionally, nucleotides play central roles in metabolism. In that capacity, they serve as sources of chemical energy , participate in cell signaling , and are incorporated into important cofactors of enzymatic reactions ....
s are numbered 16001-16569. Some test reports might omit the 16 prefix from HVR1 results. ie 519C and not 16519C.

RegionHVR1HVR2
Differences from CRS111T,223T,259T,290T,319A,362C Not Tested


More extensive tests will also sequence Hyper Variable Region 2 (HVR2). HVR2 nucleotides are numbered 073-577.

RegionHVR1HVR2
Differences from CRS111T,223T,259T,290T,319A,362C073G,146C,153G


Haplogroup

Most results include a prediction of mtDNA Haplogroup
Human mitochondrial DNA haplogroups

In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in Human mitochondrial genetics. These haplogroups have led some researchers to trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread across the globe....
. If you belong to a Haplogroup that is distantly related to the CRS, then the prediction may be sufficient. Some companies test for specific mutations in the coding region. For large Haplogroups, such as mtDNA Haplogroup H
Haplogroup H (mtDNA)

In human mitochondrial genetics, Haplogroup H is a Human mitochondrial DNA haplogroup.The Cambridge Reference Sequence , the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H....
, an extended test is offered to assign a sub-clade.

Geographic origin tests

Autosomal tests that test the recombining chromosomes are available. These attempt to measure an individual's mixed geographic heritage by identifying particular markers, called ancestry informative markers or AIM, that are associated with populations of specific geographical areas. The tests' validity
Validity

The term Validity in logic applies to Argument or statements....
 and reliability
Reliability (statistics)

In statistics, reliability is the consistency of a set of measurements or measuring instrument, often used to describe a Test . This can either be whether the measurements of the same instrument give or are likely to give the same measurement , or in the case of more subjective instruments, such as personality or trait inventories, whether t...
 have been called into question but they continue to be popular. Anomalous findings most often result from databases too small to associate markers with all the areas where they occur in indigenous populations

Biogeographical ancestry

Autosomal DNA
Autosome

An autosome is a non-sex chromosome. It is an ordinarily paired type of chromosome that is the same in both sexes of a species . For example, in humans, there are 22 pairs of autosomes....
 testing purports either to determine the "genetic percentages" of a person's ancestry from particular continents/regions or list the countries and "tribes" of origin on an overall basis. Admixture tests arrive at percentages by examining SNPs
Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
, which are locations on the DNA where one nucleotide has "mutated" or "switched" to a different nucleotide. Tests listing geographical places of ancestry use alleles -- individual and family variations on various chromosomes across the genome analyzed with the aid of population databases. One line of tests is designed to tell what percentages of Native American
Native Americans in the United States

Native Americans in the United States are the Indigenous peoples of the Americas from the regions of North America now encompassed by the continental United States United States, including parts of Alaska and the island state of Hawaii....
, European and Near Eastern, East Asian, and Sub-Saharan African ancestry a person has. The second type of test concentrates on standard identity markers such as the CODIS profile combined with databases like OmniPop, ENFSI and proprietary adaptations of published studies.

One company describes four biogeographic 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.


Based on customer feedback, the company in June 2007 introduced a new version of its EURO DNA test with a more limited range of countries that promises to have more meaningful clues to one's European ancestry. Both tests -- the four-part ethnicity estimate and EURO DNA test -- use a high number of so-called Ancestry Informative Markers whose genetic distance between populations reflects the populations' geographic distance from each other. The location and variation of these AIMs are proprietary to the company and have never been published.

In 2006, another company developed an autosomal DNA
DNA

Deoxyribonucleic acid is a nucleic acid that contains the genetics instructions used in the development and functioning of all known living organisms and some viruses....
 ancestry-tracing product that combined the traditional CODIS markers used by law enforcement officers and the judicial system with OmniPop, a population database developed by San Diego detective Brian Burritt. Customers received matches to their profile's frequency of occurrence in world populations as well as a breakout for European ancestry based on the European Network of Forensic Science Institutes, or ENFSI . As a public service, the company has supported the expansion of OmniPop, which currently encompasses over 360 populations, double that of its first release. The ENFSI calculator uses data from 24 European
European ethnic groups

The European peoples are the various nations and ethnic groups of Europe. European ethnology is the field of anthropology focusing on Europe....
 populations (5700 profiles). The two databases must be searched separately, because they are based on two different sets of markers. The company sells its product as the DNA Fingerprint Test. The 16 markers incorporated in its results are: D8S1179, D21S11, D7S820, CSFIPO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, and FGA.

The theory behind using a forensic profile for ancestry tracing is that the alleles' respective frequency of occurrence develops over generations with equal input of the two parents since for each location we take one value from our mother and one from our father. It thus serves as a window into a person's total ancestral composition. The configuration of scores reflects inherited changes from all previous generations, all ancestral lines, and can predict an individual's unique probable ethnic matches based on the profile's commonness or rarity in different populations .

To give an idea of the inclusiveness of the latest version of OmniPop, the following are the last populations that have been added.

Greek, Sikkim (India), Bhutia (India), Italian, Argentinian (Misiones), Hungarian (E. Romani), Hungarian (Ashkenazim), Romanian (Szekler), Romanian (Csango), Tibet (Luoba).

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

Along the same lines, yet another company identifies the indigenous and diaspora populations in which an individual's autosomal STR profile is most common. This test examines autosomal STRs
Short tandem repeat

A short tandem repeat in DNA is a class of polymorphism that occurs when a pattern of two or more nucleotides are repeated and the repeated sequences are directly adjacent to each other....
, 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 thirty-four world regions:

  • Caucasian
    • European :
      • Eastern European: The Slavic speaking region of Eastern Europe.
      • Finno-Ugrian: The Uralic speaking region of Northeastern Europe.
      • Mediterranean: The Romance speaking region of Southwestern Europe.
      • Northwest European: The Celtic and Germanic speaking region of Northwestern Europe.
    • Near Eastern
      • Arabian: The Arabian Peninsula.
      • North African: Populations of the Atlas Mountains and Sahara Desert.
      • Mesopotamian: The historical “Cradle of Western Civilization” including modern Iran, Iraq and nearby territories.
      • Aegean: Anatolia region, modern territories of Southern Italy and Sicily, Greece, and Turkey.
      • Levantine: Populations along the coast of the eastern Mediterranean Sea.


  • Asian
    • Central and South Asian Regions:
      • Altaian
      • Eastern India
      • North India
      • South India
    • East Asian Regions:
      • Japanese
      • Malay Archipelago
      • North Chinese
      • South Chinese
      • Southeast Asian
      • Tibetan


  • Sub-Saharan African Regions:
    • East African
    • Southern African
    • West African


  • American Indians
    • Native North American Regions:
      • Arctic: Inuit (Eskimo) peoples of Alaska.
      • Athabaskan: Athabaskan speaking Dine peoples of western North America.
      • Mexican: Native peoples of Mexico, including the historical territories of the Aztec Empire.
      • North Amerindian: Native peoples of the Great Plains region of North America.
      • Ojibwa (East Algonquian): Eastern Algonquian speaking peoples of northeastern North America.
      • Salishan: Salish of the Pacific Northwest.
    • Native Central and South American Regions:
      • Amazonian
      • Andean
      • Central American
      • Mayan
      • Patagonian


  • Pacific Regions:
    • Australian: Aboriginal peoples of Australia and Papua New Guinea.
    • Polynesian


The STR analysis measures the frequency of a person's DNA profile within major world regions. Unlike SNP admixture tests, this analysis is based on objectively identified world regions and does not depend on any system of presumed biogeographic classifications. As most STR analysis examines markers chosen for their high intra-group variation, the utility of these particular STR markers to access inter-group relationships may be greatly diminished.

Native American ancestry

Autosomal testing, Y-DNA, and mtDNA testing can be conducted to determine Amerindian
Native Americans in the United States

Native Americans in the United States are the Indigenous peoples of the Americas from the regions of North America now encompassed by the continental United States United States, including parts of Alaska and the island state of Hawaii....
 ancestry. A mitochondrial Haplogroup determination test based on mutations in Hypervariable Region
Hypervariable region

A hypervariable region is a location within nuclear DNA or the D-loop of mitochondrial DNA in which base pairs of nucleotides repeat or have substitutions ....
 1 and 2 may establish whether a person's direct female line belongs to one of the canonical Native American Haplogroups, A
Haplogroup A (mtDNA)

In human genetics, Haplogroup A is a Human mitochondrial DNA haplogroup.Haplogroup A is believed to have arisen in Asia some 60,000 years before present....
, B
Haplogroup B (mtDNA)

In Human mitochondrial genetics, Haplogroup B is a human mitochondrial DNA haplogroup.Haplogroup B is believed to have arisen in Asia some 50,000 years before present....
, C
Haplogroup C (mtDNA)

In human mitochondrial genetics, Haplogroup C is a human mitochondrial DNA haplogroup of characteristic Siberian Lineage.Haplogroup C is believed to have arisen somewhere between the Caspian Sea and Lake Baikal some 60,000 years before present....
, D
Haplogroup D (mtDNA)

In human genetics, Haplogroup D is a human mitochondrial DNA haplogroup.Haplogroup D is believed to have arisen in Asia some 60,000 years before present....
 or X
Haplogroup X (mtDNA)

In human mitochondrial genetics, Haplogroup X is a human mitochondrial DNA haplogroup which can be used to define genetic populations. The genetic sequences of haplogroup X diverged originally from Haplogroup N , and subsequently further diverged about 20,000 to 30,000 years ago to give two sub-groups, X1 and X2....
. If one's DNA belonged to one of those groups the implication would be that he or she is, in whole or part, Native American. Comparison with tribal-specific haplotypes is at times possible. Significantly, however, the U.S. government does not consider DNA as admissible evidence for enrollment in any federally recognized tribe
Native Americans in the United States

Native Americans in the United States are the Indigenous peoples of the Americas from the regions of North America now encompassed by the continental United States United States, including parts of Alaska and the island state of Hawaii....
. Tribes, after all, are political constructs, not genetic populations. Membership in a federally recognized entity is based on the record of names of one's direct ancestors on tribal-specific Native American censuses (or final rolls) prepared during treaty
Treaty

A Treaty is an agreement under international law entered into by actors in international law, namely states and international organizations. A Treaty may also be known as: agreement, protocol, covenant, convention, exchange of letters, etc....
-making and relocation to reservations
Indian reservation

An Indian reservation is an area of land managed by a Native Americans of the United States tribe under the United States Department of the Interior Bureau of Indian Affairs....
 in the 1800s.

Complicating factors in identification are the Native American name controversy and recent evidence that indigenous North American Mitochondrial Haplogroups
Human mitochondrial DNA haplogroups

In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in Human mitochondrial genetics. These haplogroups have led some researchers to trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread across the globe....
 may not be limited to the five named. The vast majority of Native American individuals do belong to one of the five identified mtDNA Haplogroups. Many Americans are just discovering their Native roots, however. 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
Adoption

Adoption is the act of Family law placing a child with a parent or parents other than those to whom they were born. An adoption order has the effect of severing parental responsibilities and rights of the original parent and transferring those responsibilities and rights to the adoptive parent....
 with Native American ancestry. There are many such adoptees or their descendants in U.S. and Canadian society because of past policies of assimilation.

African ancestry

Y-DNA and mtDNA testing can determine with which present-day Africa
Africa

Africa is the world's second-largest and second most-populous continent, after Asia. At about 30.2 million km? including adjacent islands, it covers 6% of the Earth's total surface area and 20.4% of the total land area....
n country a person shares a direct line of part of his or her ancestry. Testing company African Ancestry maintains an "African Lineage Database" of African lineages from 30 countries and over 160 ethnic groups. Due to joint long histories in the US, approximately 30% of African American
African American

African Americans or Black Americans are citizens or residents of the United States who have origins in any of the Black people populations of Africa....
 males have a European Y chromosome haplogroup Some Native American ancestry is evident in modern-day African Americans as well. By the early 19th century, substantial families of Free Persons of Color had been established who were related to people free during the colonial period; most of those have been documented as descended from white women (servant or free) and African men (servant, slave or free).

As for the mitochondrial haplotypes, African Ancestry lists approximately 300 tribal affiliations and seeks to assign, within a certain measure of likelihood, an African tribe to individuals who are tested. This is how Oprah Winfrey
Oprah Winfrey

Oprah Gail Winfrey is an United Statesn television presenter, Media proprietor and philanthropist. Her television syndication talk show, The Oprah Winfrey Show, has earned her multiple Emmy Awards and is the highest-rated talk show in the history of television....
 discovered one direct line of maternal ancestry. When Oprah had her DNA tested, the results suggested her most likely match in direct matrilineal ancestry was to the Kpelle people of Liberia. According to authorities like Salas, nearly three-quarters of the ancestors of African Americans taken in slavery
History of slavery in the United States

Slavery in the United States began soon after British colonization of the Americas first settled Colony of Virginia in 1607 and lasted as a legal institution until the passage of the Thirteenth Amendment to the United States Constitution in 1865....
 came from West Africa.

The African-American movement to discover and identify with ancestral tribes has burgeoned since DNA testing. Often members of African-American churches take the test as groups. African Americans cannot easily trace their ancestry during the years of slavery through surname research
Surname project

A surname project is a genetic genealogy project which uses genealogical DNA tests to trace male lineage.Because surnames are passed down from father to son in many cultures, and Y-chromosomes are passed from father to son with a predictable rate of mutation, people with the same surname can use genealogical DNA testing to determine if the...
, census
Census

A census is the procedure of systematically acquiring and recording information about the members of a given population. It is a regularly occurring and official count of a particular population....
 and property records, and other traditional means. Genealogical DNA testing gives them at least one distinct tie to African heritage.

Cohanim ancestry

The Cohanim
Kohen

A kohen is a Jew who is a direct male descendant of the Bible Aaron, brother of Moses, with a separate status in Judaism. Another term for the descendants of Aaron are the Aaronites or Aaronids....
 (or Kohanim) is a patrilineal
Patrilineality

Patrilineality is a system in which one belongs to one's father's lineage; it generally involves the inheritance of property, names or titles through the male line as well....
 priestly line of descent in Judaism
Judaism

Judaism is a set of beliefs and practices originating in the Hebrew Bible , as later further explored and explained in the Talmud and other texts....
. According to the Bible
Torah

The term "Torah" , or Five Books of Moses or Pentateuch, refers to the entirety of Judaism's founding Halakha and ethical religious texts....
, the ancestor of the Cohanim is Aaron
Aaron

In the Hebrew Bible, Aaron , or Aaron the Levite , was the brother of Moses. He was the great-grandson of Levi and represented the priestly functions of his tribe, becoming the first Kohen Gadol of the Hebrews....
, brother of Moses
Moses

Moses is a Hebrew Bible Hebrews religious leader, lawgiver, prophet, to whom the Mosaic authorship of the Torah is traditionally attributed. Also called Moshe Rabbeinu in Hebrew , he is the most important prophet in Judaism, and also an important prophet of Christianity, Islam, the Bah?'? Faith, Rastafari movement, Chrislam and many ot...
. Many believe that descent from Aaron is verifiable with a Y-DNA test: the first published study of all in genealogical Y chromosome DNA testing found that very many of the Cohens did indeed have distinctively similar DNA, rather more so than general Jewish or Middle Eastern populations. These Cohens tended to belong to Haplogroup J
Haplogroup J (Y-DNA)

In human genetics, Haplogroup J is a Human Y-chromosome DNA haplogroup. It is defined by the 12f2.1 genetic marker, or the equivalent M304 marker....
, with Y-STR values clustered unusually closely around a haplotype known as the Cohen Modal Haplotype (CMH). This could indeed be consistent with a shared common ancestor, or with the hereditary priesthood having originally been founded from members of a single closely related clan.

But it should be noted that the original studies tested only six Y-STR markers, now considered a very low-resolution test. Such a test simply does not have the resolution to prove relatedness, nor to estimate reliably the time to a common ancestor. The Cohen Modal Haplotype (CMH), while notably frequent among Cohens, also appears in the general populations of haplogroups J1
Haplogroup J1 (Y-DNA)

In human genetics, Haplogroup J1 is a Y chromosome haplogroup which is a subdivision of haplogroup J ....
 and J2
Haplogroup J2 (Y-DNA)

In human genetics, Haplogroup J2 is a Y chromosome haplogroup which is a subdivision of haplogroup J . It is further divided into two complementary clades, J2a-M410 and J2b-M12....
 with no particular link to the Cohen ancestry. So while many Cohens have haplotypes close to the CMH, a far larger number 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 Aaron lineage, not the CMH in J2. It is not possible for Jews with the CMH in both J1 and J2 to all be descended from one man who lived approximately 3300 years ago, because J1 diverged from J2 10,000 years ago, significantly before the postulated time of Aaron.

There are a high percentage of Arabs in haplogroup J1 with the CMH: for example, 20% of men in Oman. There are also Arab men with one-step mutations from the CMH, such as Galilee Modal Haplotype and Negev Bedouin Haplotype (Coffman study 2005). Some of them claim a Cohen connection to the MCRA (most recent common ancestor) before Aaron, which is Abraham, who supposedly lived 500 years earlier than Aaron.

To some extent one could increase resolution by testing more than six Y-STR markers. For some this could certainly help to establish relatedness to particular recent Cohen clusters. For many it is likely that testing would still be unable to distinguish definitively shared Cohen ancestry from the more general population distribution. So far there is no openly published research to indicate what extended Y-STR haplotype distributions appear to be characteristic of Cohens. Although some high-resolution testing has certainly been done, to date the results are held as closely guarded secrets. There have been no reports as to whether the high-resolution testing that has been done tends to confirm or tends to call into question the basic hypothesis of a majority of Cohens' sharing a recent common ancestry back to a Y-chromosomal Aaron
Y-chromosomal Aaron

Y-chromosomal Aaron is the name given to the hypothesised most recent common ancestor of many of the patrilineal descent Jewish priestly caste known as Kohen ....
 at an appropriate date. This is a basic problem with the "for-profit" DNA companies now trying to sell their products: they have published no research proving their claims that the 37-marker test can prove relatedness to a mathematical degree of certainty within a genealogical time frame.

European testing

For people with Europe
Europe

Europe is, conventionally, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally divided from Asia to its east by the water divide of the Ural Mountains, the Ural , the Caspian Sea, and by the Caucasus Mountains to the southeast....
an 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
The Seven Daughters of Eve

The Seven Daughters of Eve is a book by Bryan Sykes that presents the theory of Human mitochondrial genetics to a general audience. Sykes explains the principles of genetics and human evolution, the particularities of mitochondrial genetics, and analyses of ancient DNA to genetically link modern humans to prehistoric ancestors....
.

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 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 gotra
Gotra

A Gotra is the lineage or clan assigned to a Hindu at birth. In most cases, the system is patrilineal and the gotra assigned is that of the person's father....
s
are clans or families whose members trace their descent to a common ancestor, usually a sage
Sage

Sage or SAGE may refer to one of the following:...
 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.

One company says it can use a 37-marker Y-DNA test to "verify genetic relatedness and historical gotra genealogies for Hindu and Buddhist engagements, marriages and business partnerships." Any Y-DNA test can be used to compare results with another person whose gotra is known.

Melungeon testing

Several efforts, including a number of ongoing studies, have examined the genetic makeup of families historically identified as Melungeon
Melungeon

Melungeon is a term traditionally applied to one of a number of "tri-racial isolate" groups of the Southeastern United States, mainly in the Cumberland Gap area of central Appalachia: east Tennessee, southwest Virginia, and east Kentucky....
. Most results point primarily to a mixture of European and African, with a very small amount of Native American lineages (none in one study). Though some companies provide additional Melungeon research materials with Y-DNA and mtDNA tests, any test will allow comparisons with the results of current and past Melungeon DNA studies.

Benefits

Genealogical DNA tests have become popular due to the ease of testing at home and the various additions they make to genealogical research
Genealogy

Genealogy is the study of families and the tracing of their lineages and history. Genealogists use oral traditions, historical records, genetic analysis, and other records to obtain information about a family and to demonstrate kinship and pedigree of its members....
. Genealogical DNA tests allow for an individual to determine with 99.9% certainty whether 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 than research alternatives, although they are limited by restrictions on lines which may be studied.

The above results are theoretical and are the best case results. For example, the 12/12 marker test match gives a 50% likelihood in 7 generations. The probability is for the most recent common ancestor. When having a 36 of 37 marker match, it gives a 90% likehood in eight generations.

Drawbacks

Common concerns about genealogical DNA test are cost and privacy issues (some testing companies electing to retain samples and results for their own use without a privacy agreement with subjects). The most common complaint from DNA test customers is the failure of the company to make results understandable and meaningful to them. According to an earlier survey, 1 in 6 Americans (16.6%) 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.

The Y-DNA lineage from father to son can have complications including unusual mutations, secret adoptions, and false paternity (i.e. the father in one generation is not the father in birth records, a discovery that might upset some people). Maternal DNA is hard to correlate with surnames because surnames are not generally passed on from women. A further drawback, at least with autosomal tests, 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.

Medical information

Though genealogical DNA tests results generally have no informative medical value and are not intended to determine genetic diseases or disorders, there has been a correlation established between a lack of DYS464
List of DYS markers

The following list of DYS markers are commonly used in genealogical DNA testing.#DYS454 is the least diverse, and multi-copy marker #DYS464 is the most diverse Y-STR marker....
 markers and infertility
Infertility

Infertility primarily refers to the biological inability of a person to contribute to fertilization. Infertility may also refer to the state of a woman who is unable to carry a pregnancy to full term....
, and a correlation between mtDNA haplogroup H
Haplogroup H (mtDNA)

In human mitochondrial genetics, Haplogroup H is a Human mitochondrial DNA haplogroup.The Cambridge Reference Sequence , the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H....
 and protection from sepsis
Sepsis

Sepsis, is a serious medicine condition characterized by a whole-body Inflammation state and the presence of a known or suspected infection.
. Certain haplogroups have been linked to longevity.

The testing of full mtDNA sequences is still somewhat controversial as it may reveal medical information. 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 Mitomap. The National Human Genome Research Institute operates the Genetic And Rare Disease Information Center that can assist consumers in identifying an appropriate screening test
Genetic testing

Genetic testing allows the Genetics diagnosis of vulnerabilities to inherit diseases, and can also be used to determine a person's ancestry. Normally, every person carries two copies of every gene, one inherited from their mother, one inherited from their father....
 and help locate a nearby medical center that offers such.

DNA in genealogy software

Some genealogy
Comparison of genealogy software

The article compares several genealogy software. Please see the entries for the individual products for further information.General information...
 software programs now allow recording DNA marker test results, allowing for tracking of both Y-chromosome and Mitochrondrial DNA tests and results for relatives. Also DNA wall charts are available.

See also

  • Autosome
    Autosome

    An autosome is a non-sex chromosome. It is an ordinarily paired type of chromosome that is the same in both sexes of a species . For example, in humans, there are 22 pairs of autosomes....
  • Electropherogram
    Electropherogram

    An electropherogram is a plot of results from an analysis done by electrophoresis.Electropherograms may be used for deriving results from:*genealogical DNA testing...
  • FamilyTreeDNA
    FamilyTreeDNA

    Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas. Family Tree DNA claims that they are the preferred vendor for 90% of the genetic genealogy market....
  • Genetic fingerprinting
    Genetic fingerprinting

    DNA profiling is a technique employed by forensic scientists to assist in the identification of individuals on the basis of their respective DNA profiles....
  • Genetic genealogy
    Genetic genealogy

    Genetic genealogy is the application of genetics to Genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals....
  • Genetic Information Nondiscrimination Act
    Genetic Information Nondiscrimination Act

    The Genetic Information Nondiscrimination Act of 2008 , is an Act of Congress in the United States designed to prohibit the improper use of genetic information in health insurance and employment....
  • Genetic testing
    Genetic testing

    Genetic testing allows the Genetics diagnosis of vulnerabilities to inherit diseases, and can also be used to determine a person's ancestry. Normally, every person carries two copies of every gene, one inherited from their mother, one inherited from their father....
  • Haplogroup
    Haplogroup

    In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor with a single nucleotide polymorphism mutation....
  • Haplotype
    Haplotype

    The term haplotype is a contraction of the term "Ploidy genotype." In genetics, a haplotype is a combination of alleles at multiple locus that are transmitted together on the same chromosome....
  • HARRIS Surname DNA Project
    Harris Surname DNA Project

    The is one of the larger Surname project with over 330 participants worldwide. It was created as a cooperative organization to develop a collection of Harris family groups who descend from various male Harris ancestors in order to use genealogical DNA testing to compare Y-DNA to discover familial and non-familial relationships....
  • International HapMap Project
    International HapMap Project

    The International HapMap Project is an organization whose goal is to develop a haplotype map of the human genome , which will describe the common patterns of human genetic variability....
  • List of DNA tested mummies
    List of DNA tested mummies

    This is a list of Mummy and ancient humans remains that have been genealogical DNA test along with a brief description of when and where they lived....
  • List of haplogroups of historical and famous figures
  • List of DYS markers
    List of DYS markers

    The following list of DYS markers are commonly used in genealogical DNA testing.#DYS454 is the least diverse, and multi-copy marker #DYS464 is the most diverse Y-STR marker....
  • List of Y-STR public databases
  • Mitochondrial DNA
    Mitochondrial DNA

    Mitochondrial DNA is the DNA located in organelles called mitochondrion. Most other DNA present in eukaryotic organisms is found in the cell nucleus....
  • Paternity test
  • Short tandem repeat
    Short tandem repeat

    A short tandem repeat in DNA is a class of polymorphism that occurs when a pattern of two or more nucleotides are repeated and the repeated sequences are directly adjacent to each other....
  • Single nucleotide polymorphism
    Single nucleotide polymorphism

    A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....


External links


Societies



Foundations and research projects

  • A wholly owned subsidiary of Sorenson


STR converters

  • (PDF)


Information and Maps on Y-DNA haplogroups



Tutorials

  • DNA Heritage
  • DNA Heritage