DNA tools for genealogists

5 June, 2012 at 11:22 pm 11 comments

DNA technology is advancing so rapidly that it is difficult to keep abreast of the advances and possibilities. Moreover rapidly falling prices make genetic testing more affordable and so more accessible. Here are some current options:

Test 1: Y-chromosome tests, for males to test DNA inherited from their father’s fathers

It is now possible for under US$200 for males to test the DNA they have inherited from their father’s father’s fathers, with sufficient accuracy to determine whether two men likely share a common ancestor ‘within a genealogical timeframe’ and how many generations ago that common ancestor probably lived.

I have used this test to discern whether two families with the same surname were actually related to each other, in situations where I have not yet found documentary proof. I have also used this particular DNA test to check (and finally refute) a theory about who might have been the biological father of an adopted male. It was necessary to find a living male descendant (down an all-male line) from the adopted male and also to find a living male descendant (down an all-male line) from the hypothesised  birth father, and then compare the DNA that each inherited from their father’s fathers.

DNA is not related to surnames and so I am not restricted to testing two men with the same surname – the test is valid for any two men who might share a common male ancestor. However when I order this test, if I choose to use a commercial testing company like Family Tree DNA – which has a huge (and growing) database – I might find in their database a match with some living descendant who shares a common ancestor that I did not know about. This is especially useful for adoptees.

The above DNA test is only available to males (as only males have a Y-chromosome). Females like me need to ask a near male relative to be tested. I have asked my father and also my mother’s brother to be tested – this opens up for examination my nearest male lines.

Test 2: Mitochondrial tests, for anyone to test DNA inherited from their mother’s mothers

Useful DNA tests are no longer limited to males. We all have a different type of DNA (called mitochondria) that we inherit from our mother’s mother’s mothers. Mitochondria mutates so slowly that formerly the only conclusions we could draw from our maternal line was about ancient ancestors and their migratory patterns.

However that is no longer true. The company Family Tree DNA offers full sequence tests of all our mitochondria (DNA that is inherited from our mothers) that allow us to identify people who share an ancestor through our mother’s mother’s mothers, within about 200 years. [Thank you Bill Hurst for pointing out that while 23andMe also tests the 'coding region' of our mitochondria,  they do not test or give results for all 16,571 locations, so theirs is not in fact a full sequence test.]

When the above matrilineal full sequence tests first became available, they cost close to $1,000. That price has dropped now to under US$300 (sometimes under $200).

Test 3: Autosomal tests, to test the DNA inherited half from each of our parents

We are not restricted to testing only the DNA of our father’s fathers or our mother’s mothers. Since 2010 it is possible to test the remaining nuclear DNA (that is, not the sex chromosomes). This DNA is called autosomal. Family Tree DNA calls their autosomal test Family Finder, while 23andMe calls a similar test Relative Finder. (Again these tests are under US$300 and sometimes under $200.)

These particular tests can check the DNA of our ancestors regardless of gender, because we inherit about half our autosomal DNA from each of our parents (and via them, from their ancestors) and this DNA can also be compared with the DNA of others. However as we inherit about one quarter of our DNA from each of our grandparents (and so about one eighth from each of our great grandparents) – eventually the inherited material from one particular ancestor becomes so small as to be difficult to identify definitively. Consequently, when comparing this autosomal DNA with someone else, our best conclusions are when the common ancestor lived no more than about 6 generations ago.

Use the tests in conjunction

While the above  tests examine separate DNA, the tests can be used in conjunction. When looking at the summary of DNA results for people that 23andMe identified as likely to be my 3rd to 5th cousins (identified via the Relative Finder – or autosomal test), I noticed that one of the matches also seemed to have very similar Y-chromosome (father’s fathers) DNA to my mother’s brother. I sent an email and by swapping names of grandparents and their parents, we soon identified that this person was the son of a 3rd cousin to me (and so indeed within the range of 3rd to 5th cousins).

It is not necessary to understand how a car works in order to drive it, but it is necessary to know the functions of driving. In the same way it is unnecessary to understand much about the science of DNA in order to use it as a tool – but it is necessary to understand what sorts of questions can be answered by the different DNA tests so you know how to apply them as tools to aid your family history research.

This field is changing quickly

Because genetic tests available to the public are changing frequently (and certainly the prices are) readers need to beware of relying on conclusions written years ago or by someone who has not ‘kept up’ with tests currently available. This blog post is partly in response to an article I read this week entitled ‘The DNA dilemma’ – I do not agree with many of the conclusions in that piece.

It is no longer true to say that the only available information to be derived from maternal DNA (or mitochondria) is about ancient migrations of peoples – recent relatives can now be found by a full sequencing of the mitochondria (test available from Family Tree DNA for under $300).

It is no longer true that autosomal DNA can only make generalised indicators of race origins. (Autosomal DNA is sometimes referred to as ‘nuclear DNA’ but that is incorrect because the sex chromosomes are also inside the cell nucleus and the autosomes are the other pairs of chromosomes that are not the sex chromosomes.) Nor is it necessary to ‘test each generation in turn’. Autosomal DNA can identify that two people shared common ancestors within 6 generations (and possibly beyond, but it is less accurate beyond 6 generations). Many genealogists will not know all of their ancestors back even 6 generations, and so this DNA test can predict likely distant cousins who may not have been found by a paper trail.

There are differences between the DNA tests used in forensic law enforcement compared to commercial tests. Without going into too much scientific detail, legal forensics examine repeating groups of DNA at certain points on the autosomes whereas commercial autosomal tests examine the autosomal SNPs (something like ‘typo’ mutations). The tests are entirely different. Be wary about confusing the markers referred to in tests of the Y-chromosome (the DNA inherited father-to-son) – which are entirely different to the markers of autosomal DNA examined by forensic law enforcement agents.

Some people have suggested that male DNA studies are only relevant between males who share surnames. That is not true. There are many examples where family trees show a son with a different surname to his father – whether the name was changed by deed poll, by adoption, by remarriage of the mother – or for many other reasons. It is not the same surname that defines two people as father and son. Likewise DNA tests do not take surnames into account, so the test result is just as accurate whether two men share a surname or not.

In my opinion, the most recent DNA tests available to genealogists offer precise information which can supplement traditional genealogical methods. Family trees are still needed to identify ancestors and draw conclusions, however DNA tests can supplement other genealogical research, filling in gaps left by paper trails. With such tools we can test our conclusions and assumptions in constructed family trees as DNA can confirm or disprove reputed relationships. As databases grow, commercial DNA tests are more likely to help us find relatives that we might not have found by ‘traditional methods’.

Entry filed under: DNA, Research techniques. Tags: , , , , , , .

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11 Comments Add your own

  • 1. Bill Hurst  |  6 June, 2012 at 7:37 am

    23andMe does not offer an mtDNA full sequence test. Their test includes about 17% of the mtDNA, I believe.

    Reply
  • 2. Helen V Smith (@HVSresearch)  |  6 June, 2012 at 7:52 am

    Thank you a very informative post on a very quickly changing area.

    Reply
  • 3. Carole Riley  |  6 June, 2012 at 11:16 am

    Very comprehensive, thank you Kerry!

    Reply
  • 4. geniaus  |  6 June, 2012 at 11:24 am

    Thanks for such a comprehensive post – I’ll need to read it a few times to fully digest it.

    Reply
  • 5. Kathleen  |  6 June, 2012 at 12:55 pm

    Thanks for such an informative post! I’ve decided to dip my toes in the waters of DNA research, and have been trying to decide on which method to use. I’m more or less stuck between asking my dad to take a Y-DNA test or taking an autosomal test myself. This post made the differences a little clearer (though I’m not sure I’ve been able to make a decision yet!)

    Reply
  • 6. Shauna Hicks  |  7 June, 2012 at 7:55 am

    Nice update Thanks Kerry

    Reply
  • 7. ausgenjourneys  |  10 June, 2012 at 8:57 pm

    Thanks for this great summary of the currently available tests Kerry. I have only stepped into DNA genealogy research this year and I am enjoying it very much! Waiting on some more results next month.

    Reply
  • 8. Sylvia Murphy  |  8 December, 2012 at 11:04 pm

    Thanks Kerry – that is a very helpful summary of the current situation. I had no idea that testing had progressed so much.

    Reply
  • [...] new technology. DNA genealogy has made significant strides and it has become more affordable in recent years. It’s now a viable option to learn more [...]

    Reply
  • 10. John  |  30 March, 2013 at 12:19 am

    Stay away from FAMILY TREE DNA
    I ordered an online special offer for a 67ydna test from Family Tree DNA and got ripped off. I paid $205.00 including postage for the test which was actually, what they call, Family Finder test. I did not receive the results for the test I ordered but received a cheaper test instead.
    I called their office but they did not want to even follow through with my complaint. I wasn’t after a refund, just the results for what I paid for.
    My advice: stay away from this company – they have no integrity!!

    Reply
    • 11. Kerry Farmer  |  30 March, 2013 at 8:00 am

      I’m sorry you had that experience John, but that has not been my experience with Family Tree DNA. I have ordered many tests from them & always received the test results I ordered. Plus when I’ve contacted the company with questions I have always received replies.

      Reply

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