DNA Tests

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TNG V11 added the capability to track DNA Tests to its list of features.

16. DNA: A new Admin category has been added for DNA Tests. After a test is created, it may be linked to any number of people in the database. If a person is linked to any tests, those tests will be shown on the person's individual page.

See TNG and DNA Tests

Introduction

This is not a definitive article on DNA and the reader is encouraged to use the numerous available resources. A good starting point is the International Society of Genetic Genealogists – ISOGG. See the following articles:

The use of DNA to help with genealogy began in 2000 and is now called genetic genealogy. Using DNA for genealogical research requires that a test result be compared to other tests. It is important to understand this concept, as DNA test results, alone, will not give any information about any specific relative. It must be compared with other test results and then combined with traditional research to be useful.

DNA exists in (almost) every cell in your body. It exists in two places inside the cell – outside the nucleus and inside the nucleus. The extra-nuclear is the mitochondria, which provide the power for the cell. The nuclear DNA is what determines inherited traits and it consists of 23 pair of chromosomes or 46 chromosomes. The first 22 pairs are called autosomes. The 23rd pair are the sex chromosomes – X and Y. A person possessing an X and a Y chromosome is male and a person possessing two X chromosomes is female. Each of the four types of DNA can be used in genealogical research.

DNA Testing

DNA testing can be used as a tool to discover and provide additional clues that can help with your family research. DNA testing of ordinary living people can provide near term and even ancient anthropological information about one's ancestors, not available in any other way. When used with more traditional research methods, DNA test results can scientifically help link and even sometimes prove or disprove relationships not otherwise available to anyone doing genealogical or historical family research.

There are several different types of DNA testing which can explore and help with different types of questions. Some tests concentrate on only the direct male lines, some on just the maternal lines and some in a more general relationship way. Combinations of various DNA test, especially within a specific family or group of related families can help explore and explain relationships which collectively can further one's knowledge and understanding of that family.

DNA tests themselves are done by separate specialty labs. Currently, TNG provides a way to record and track any and all of the many different types of DNA tests, in one place, by any and all of the individuals and families within your database.

Types of DNA Tests

There are four types of DNA which can be tested. They are in alphabetical order and not necessarily in order of their usefulness.

Autosomal DNA (atDNA)

atDNA [1] is inherited from both parents, approximately half from each parent (i.e. it is recombinant). Sophisticated matching mechanisms are required to compare atDNA tests and the amount of autosomal DNA inherited from an ancestor diminishes exponentially with each preceding generation. It is useful in finding recent relatives out to the third and fourth generation and, occasionally, more distantly related. Progress is being made in identifying which parent contributed specific segments of one's DNA,though it may not be useful to most researchers.
One of the well-deserved criticisms levelled at atDNA is the assertion that it can identify one's ethnicity or geographic origins. This is only partly true due to several factors, e.g. (a) one loses the contribution from an ancestor every 7 to 10 generations; (b) the ethnicity predictions are based on studies of people groups who have survived but ancestors whose genetic information has been lost cannot be represented, and (c) it cannot be known for certain where any people group lived at any particular time. (Note that all the DNA tests provide ethnicity information. Y-DNA and mtDNA are more useful, albeit for a smaller subset of one's ancestors.)

mitochondrial DNA (mtDNA)

Everyone has mtDNA [2]. Some characteristics which make it particularly interesting are (1) it exists outside the cell nucleus, (2) it exists in much greater quantities than any of the other types of DNA and (3) it is inherited only from one's mother. (Its greater quantity explains why DNA tests on ancient specimens can often only be done with mtDNA because decay has destroyed the other types.)
mtDNA is similar to Y-DNA in that it provides a signature (haplogroup) defining everyone related to you through your direct maternal, or matrilineal, ancestry. This means your mother, her mother, etc. It differs from Y-DNA in that it does not follow the matrilineal line of descent as might be expected. Each mother gives it to all her children, so both her son and her daughter get mtDNA from her, but only her daughter can pass it on to her children. The use of mtDNA is complicated by (1) a woman's surname change at each generation, (2) it mutates slowly, making it less effective at demarking recent branches of the family tree and (3) the mode of transmission, mother-to-children, can be confusing.

X-chromosome DNA (X-DNA)

The X-chromosome [3] is part of the 23rd pair of sex chromosomes. Everyone has an X-chromosome, but women have two and men only have one. Women therefore get one from each parent, while men only get theirs from their mother. As with the other types of tests, its method of transmission determines how it can be used in genealogy. It is currently the least used type of test probably because of that unusual method of transmission. [4]

Y-chromosome DNA (Y-DNA)

Only males have Y-DNA [5]. A Y-DNA test [6] provides two distinct signatures which identify all your direct-male ancestors and their direct-male descendants. This direct-male relationship (both ancestral and descendant) is sometimes called patrilineal and it means father to father for ancestral and father to son for descendant. The names of the two signatures are haplogroup and haplotype (see below). These signatures will be identical to or very nearly the same as all your direct-male relatives. [7] [8] [9]

What to expect from a DNA test

The caveat: DNA does not provide answers. It provides clues. Disappointment comes from not knowing what to expect. For example, finding a name you recognize on a census record is a clue, not an answer. It requires other information to validate it is as useful to your research. DNA works the same way. You must use it with other information for it to be useful.

The purpose of a DNA test is to tell you where your line differs from another. Everyone's DNA is 99.9% similar to everyone elses and we are all related, so it is the differences we seek. We want to discover who our relatives are within a genealogically useful time frame and exclude all the rest.

Perhaps the most important and overlooked part of a DNA test is that it can tell you with relative certainty where a relationship does NOT exist. This is very valuable information. Once you know you are not related to a line, you can save money and time by not researching it.

The most well-known part of using DNA is finding people to whom you have a probablity of being related. The word "probability" should not be ignored. Use each piece of information from a DNA test as a clue. The more closely the test result predicts you match to someone should help you focus your research but, ultimately, you will need to fall back on traditional genealogical research to make sense of it.

Companies offering DNA tests

There are many companies offering DNA tests for genealogy research. It is a new technology which promises quick profits, so be careful.

Some things to consider are the reputation of the company, the types of tests they offer and the size of their database (i.e. how many people have tested with them). A very important factor often overlooked is how useful are the tests they offer and, most importantly, how responsive to requests for information are their customers.

There are currently three principal providers, with a fourth that should not be overlooked.

They offer only a combined autosomal and X-DNA test. Their primary objective has been to find genetic traits with medical implications, with genealogy being a secondary function. Of the big three, the likelihood of people responding to a request for information appears to be second. Their database is second in size behind ancestry's.
Ancestry.com only offers autosomal tests. Based on their name and their purported purpose of providing genealogical information, they should be the most useful. Their recent cancellation and deletion of all data on Y-DNA puts that into question. They probably have the largest database but, of the "big three", their customers have proven to be the least likely to respond to requests and ancestry doesn't help because they hide the name and contact information for the matches.
They are listed last because this is an alphabetical listing. They were the progenitors of using DNA testing for genealogy, introducing it in 2000. They are also the leader in finding new information from the DNA. They have a large database, but not as large as the other two. Their customers choose to test with them specifically because they want to use it to find ancestors and relatives, so their customers are the most likely to respond to a request for information.
Family Tree DNA offers testing on all four of the DNA types. They also offer specialized tests (e.g. unique SNPs) and, at extra expense, tests on unique specimens (e.g. hair, body fluids, etc.).
The fourth company which should not be overlooked. Their focus is primarily on anthropology, not genealogy, but testing with them can provide valuable and interesting insights into one's ancestry.
A joint project of National Geographic and IBM, with the testing being done by Family Tree DNA, their purpose is to research where people groups originated and where they lived.

Choosing a Test

Selecting a DNA test to help with your genealogy research can be confusing. Here are some things to bear in mind as you do so. It is also recommended you contact someone who is administering a Project as they can give you hands-on advice.

* Perhaps the most difficult part of all the tests is getting people to respond to your requests for information and, secondarily, trying to get people to take a test.

With all the tests, being able to directly contact a match is very important. Of the "big three" (23andme.com, ancestry.com and familytreedna.com, ancestry is the only one that does NOT allow people to directly contact a match – they must use their anonymous messaging service.)

The cost of tests runs from "not much" to "a lot", so it is wise to understand what you get for your money. Generally speaking, the higher the resolution of the test, the more useful it will be (and higher resolution usually costs more money). Here are some basic insights:

  • Autosomal DNA
This is usually the least expensive. It can also be one of the most difficult to interpret. The company offering the test should offer analytical tools and provide you with contact information for people with whom you share a match.
An atDNA test, from a reputable company, should provide you with a list of people that match your DNA profile and, ideally, a means to contact those people. These will be first to fifth cousins.
An atDNA test will not provide you with information about any specific ancestor and it will not provide you with useful information about ancestors beyond five generations back.
  • Mitochondrial DNA
mtDNA is sometimes thought to be the least useful test but this is only because it is not properly understood. Some pundits have said it is a fraud or a scam because it excludes all your ancestors but one from each generation. Five generations back you have 32 ancestors, but mtDNA only provides a signature for one of those from each generation, or 5 people. This is not a weakness. It is a significant strength in that if provides focused and more easily researched information. Y-DNA (see below) also provides focused information.
mtDNA provides you with a signature for your matrilineal line. It is difficult in that it mutates so slowly that a perfect match between two individuals can indicate a relationship somewhere within hundreds of years. Its difficulty is compounded by the fact that a woman's surname typically changes with each generation and, in many cases, may even be unknown.
  • X-chromosome DNA
This is currently the least used of the four types of DNA. It is used similarly to atDNA, but its mode of transmission makes it difficult to use.
  • Y-chromosome DNA
This is perhaps the most useful of all the DNA tests. It provides information on a man's patrilineal line and is also called a "surname" test because men typically carry the same surname through each generation.
It is typically the most expensive test and, like mtDNA, it receives criticism for not being inclusive of all one's ancestors. Anyone who says that clearly has not used DNA for research. Being able to focus on one individual from each generation is very powerful.
As with mtDNA, the single-line focus excludes other ancestors. This can be rectified by finding descendants of the other lines and having them test. That may not even be necessary, as a search for surname projects (available only at Family Tree DNA) may show that your other surname is already being researched.
Y-DNA testing can include both SNPs and STRs. As with the other tests, SNPs provide information about ancient mutations. STRs provide information about more recent changes. A perfect match at 67 or 111 Y-STR markers can indicate a relationship within one or two generations (a first or second cousin). This allows for much more detailed clues into where lines intersect within a useful genealogical time frame.

DNA Projects

There can be value in joining a DNA Project [11] for a person who has taken a DNA test. There are projects that address each type of DNA test. The most common type of project is the Surname Project. [12] [13] These will be for Y-chromosome tests. Mitochondrial DNA (mtDNA), like Y-DNA, highlights a specific line, in this case the matrilineal line, but the constantly changing married names of the women make it difficult to use. Also, its very slowly mutating characteristic makes it difficult to discern branches of the tree, so it is best suited for a Geographical DNA Project. [14] There are also projects for haplogroups. [15]

Some DNA Terminology

Autosomal DNA (atDNA)

Autosomal DNA (often abbreviated atDNA) is comprised of the first 22 pair of chromosomes, also known as the autosomes. A person gets approximately one-half of their atDNA from each parent. The contribution from each preceding generation is reduced by a factor of 2, 1/2 from each parent, 1/4 from each grandparent and so on.
Human DNA contains approximately three billion base pairs, which are inherited from your ancestors. Base pairs provide the data we use in DNA and, at 32 generations back, one would have 4.3 billion ancestors, or more ancestors than you have base pairs, so it can be seen that it is impossible for anyone to have DNA from all their ancestors. Assuming 30 to 35 years per generation, this represents ancestors from approximately 1,000 years ago. This illustrates again why ethnicity predictions from DNA tests should be taken as light-hearted factoids and not serious genealogy. Also, an ethnicity report is based on population groups from tens of thousands of years ago and many of your ancestors will not be represented in your DNA.

Genealogically Useful Time Frame

This is important to the genetic genealogist as non-recombinant DNA tests (mtDNA and Y-DNA) point to ancient people groups (but their focus is very narrow, on one line only and Y-DNA can discern very recent relationships, so they may be the most useful). Recombinant DNA (atDNA & X-DNA) gets diffused over time and is better suited for recent relationships (within approximately 5 generations). A genealogically useful time frame is approximately when surnames appeared and for which documentation is available, or about 1,000 years ago. Anything beyond that can be very difficult to substantiate. (Surnames appeared in Europe approximately 1,000 years ago and were adopted in other places after that. Turkey didn't require surnames until 1934. Likewise, the availability of documentation varies over place and time.) Y-DNA STR tests, due to its higher mutation rates, and atDNA can effectively represent recent relationships.

genome [16] [17]

The human genome contains all the genetic instructions (genes) found in a person's cells. It consists of the 23 chromosomes found in the nucleus and a chromosome found in the mitochondria. There are approximately 23,000 genes in the human genome. As prices for testing drop, full-genome testing will become more common. These can provide valuable medical information – and are targets for those who think people should not have access to this type of information.

Haplogroup

A haplogroup is a large group of people related to you as defined by a SNP which occurred in the mtDNA or Y-DNA of one of your ancestors. The overall family tree for humans is called a phylogenetic tree [18] [19] and each of its branches represents a more recent haplogroup. The most ancient mtDNA haplogroup known is "L". Everyone who has ever lived is believed to descend from mtDNA haplogroup L, making it the largest haplogroup. Conversely Y-haplogroup A encompasses every man who has ever lived. Most men in America belong to the much more recent haplogroup R which is thought to have appeared about 20,000 years ago. More recent haplogroups represent smaller subgroups of the human race. Scientists are discovering even more recent haplogroups, which will make DNA even more useful to the genealogist. Each haplogroup is defined by one or more SNPs and the most recent haplogroup is defined by what is called a terminal SNP. A terminal SNP will be redefined as more recent ones are discovered. [20]

Haplotype [21] [22]

We use a narrow definition for haplotype for genealogical research. It is specific to Y-DNA and, simply put, it is a set of numbers that are unique to the individual who took the test – a "signature" for that person. Others who have similar or identical haplotypes are almost certainly related, though "genetic drift" can cause false positives with unrelated individuals who have similar haplotypes. The numbers are called "alleles" and represent the number of times a base pair is repeated. Whereas a haplogroup denotes a branch on the human tree, a haplotype belongs to one individual and those very closely related to him.

matrilineal

This term can mean different things. For this article, it means a line of females, unbroken by a male, both ancestors and their descendants. Mother to mother to mother, etc. and mother to daughter to daughter, etc.

Mitochondrial DNA (mtDNA)

Mitochondrial DNA is distinct from the other types of DNA. It is located outside the nucleus of the cell in the mitochondria. There is only one nucleus in a cell and only one set of nuclear DNA, but there can be thousands of mitochondria in a cell. Archaelogists studying the DNA of ancient specimens often find that there is little or no nuclear DNA remaining while some mtDNA may still remain. Everyone has mtDNA, and they all get it from their mother – but only women pass mtDNA to the next generation.

MRCA [23]

This stands for "Most Recent Common Ancestor" and is the ancestor where the lines of two people intersect. The MRCA for first cousins is their grandfather or grandmother.

patrilineal

For this article, it means a line of males, unbroken by a female, both ancestors and their descendants. Father to father to father, etc. and father to son to son, etc.

recombinant and non-recombinant DNA

When the body produces an egg or a sperm cell, it must contain only one chromosome and not the pair found in the body, and they make the pair when they combine to form a new person. A woman's egg contains fragments from both her parents and a man's sperm cell contains fragments from both his parents. (This term can also refer to genetic engineering.)
The autosomes (autosomal DNA) recombine but the Y-chromosome and the mtDNA are passed directly from parent to child and do not recombine. Continuing to be a troublemaker, the X-chromosome recombines sometimes and not others – a woman gets one X from her father and a recombined one from her mother's two X-chromosomes. In all other cases, it is non-recombinant.

SNP

SNP is an abbreviation of Single Nucleotide Polymorphism – and represents a change in a base pair on a chromosome (called a mutation). A SNP is used to define a branch in the phylogenetic tree (i.e. a haplogroup). It was once thought a SNP occurred only once in human history, but rare instances have been found of SNPs having occurred more than once and in more than one place on the phylogenetic tree. This complicates the study of SNPs and the definition of haplogroups. Another problem is that no one can know when a SNP occurred. It has to be predicted by, again, doing traditional genealogy and archeological research.
The term "terminal SNP" refers to the most recent SNP in your genome which has been accepted by geneticists as unique and meaningful. It defines the most recent and smallest haplogroup to which you belong. A terminal SNP will be redefined as more recent ones are discovered, moving your haplogroup designation closer to you in time.

STR

Short Tandem Repeat ... not a true change of the DNA, but a "stutter" where a portion is repeated. The STR is predicted to change once in 250 to 400 generations, so you test a whole lot of them to get resolution. These provide the "haplotype" for an individual and he can compare that with others to see if they are recently related. (In older texts, it is sometimes called "junk DNA" because it appeared to have no purpose or effect.)

Triangulation

A powerful tool is determining the haplotype of an ancestor. This is done through a process called Triangulation. [24] It involves testing many cousins descended from that ancestor and carefully working back up the pedigree tree to find where each difference (mutation) occurred. It is most commonly done with Y-STRs [25] but can be used for other forms of DNA as well.

X-DNA

The X chromosome is part of the 23rd pair of chromosomes, known as the sex chromosomes because they determine the sex of an individual. Men have one X chromosome and women have two. Its method of transmission can be confusing and difficult to analyze. A man get his single X-chromosome from his mother and a woman receives one X-chromosome from her father and a recombined one (representing her maternal grandparents) from her mother.

Y-DNA

The Y chromosome is part of the 23rd pair of chromosomes, known as the sex chromosomes because they determine the sex of an individual. Only males have a Y chromosome and it therefore provides a tool to identify men who are related patrilineally.

Recommended Readings

If you want to learn more about DNA Testing, the following may be helpful:

ISOGG Beginners' guides to genetic genealogy

Introduction to Using DNA for Genealogy

List of DNA testing companies

Choosing a DNA testing company

ISOGG Autosomal DNA testing comparison chart

DNA Testing for Genealogy Part 1 - Y-DNA

DNA Testing for Genealogy Part 2 - mtDNA

DNA Testing for Genealogy Part 3 - autosomal DNA

DNA Testing for Genealogy Part 4 - ethnicity percentage

Family Tree DNA Interpering Genetic Genealogy Results

Genetics Glossary

Gedmatch: a DNA geek’s dream site

ISOGG Haplogroup

World Families Net definition of haplogroups

DNA Explained What is a haplogroup

23andMe More about haplogroups

Charles Kerchner's YDNA Haplogroup Descriptions & Information Links

Charles Kerchner's MtDNA Haplogroup Descriptions & Information Links

Footnotes

  1. ISOGG Autosomal DNA
  2. ISOGG Mitochondrial DNA
  3. X Marks the Spot
  4. That Unruly X
  5. ISOGG Y-chromosome DNA
  6. ISOGG Wiki (http://www.isogg.org/wiki), Y chromosome DNA tests
  7. Y-DNA STR testing chart
  8. 23and Me More about Haplogroups
  9. Y-DNA SNP testing chart
  10. ISOGG : Genographic Project
  11. DNA Projects
  12. Surname DNA projects
  13. Cloud DNA Project
  14. Geographical DNA projects
  15. Haplogroup project
  16. Human genome
  17. The Human Genome Project (HGP)
  18. Y-DNA Haplogroup Tree 2016
  19. Comprehensive phylogenetic tree of global human mitochondrial DNA variation
  20. 23and Me More about Haplogroups
  21. Haplotype
  22. Ancestral haplotype
  23. Most Recent Common Ancestor (MRCA)
  24. Triangulation
  25. Triangulation for Y DNA

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