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DNA testing for Genealogy

by

Iain Kennedy


Modern DNA testing can now be used to corroborate or expand your family tree. A number of UK and US based companies now offer Y-chromosome tests that can prove whether people are closely related or not and even give a strong indication of how recently their common ancestor lived. In addition, well over a thousand projects have now been set up which study particular UK/Ireland surnames using the tests, or particular regions of the islands (eg Scottish Borders). It is not necessary to have a 'regional' surname, as even occupational surnames such as Smith can benefit from DNA testing to help sort out whether names are closely related or not.

How it works

A male participant is sent a kit containing a small brush. This is used to take a swab sample from inside the cheek. It is then stored in preservative and sent back to the company for lab analysis. Your result will consist of a series of numbers - these are repeat counts from sections of your DNA called Short Tandem Repeats. The particular combination of counts is known as your haplotype. Over time these counts will change through a 'mutation' event during transmission from a father to a son - one marker might change from a repeat count of 14 to 15, say. It is these mutations that cause the DNA test results to diverge and help us trace the family tree - or distinguish who is in the tree from who is not. Your close male relatives will have the same or near identical haplotype and unrelated people will typically have quite different ones. Some illegitimate births may be unveiled as such although of course they might be due to a close relative in which case they may not be distinguished by the test.

The names and order of presentation of these repeat counts are arbitrary. Having said that, some are already known to be faster at mutating than others so it is always worth looking at which markers two profiles differ on.

An example result might look like this, in part:

DYS393=13

DYS390=25, etc.

The name before the equals sign is the scientific name given to the STR marker and the number after the equals sign is the repeat count. A sample set of results can be found here.

Some companies also offer tests that both males and females can take called an mtDNA (mitochondrial DNA) test. The use of these for genealogy is limited due to the slow mutation rates involved, resulting in a lack of resolution. Female genealogists are recommended to concentrate on finding male relatives to take a Y-DNA test instead.

The Y-chromosome haplogroups were previously defined by the Y-Chromosome Consortium although this institution has in recent times seemingly ceased to function leaving the industry without a clear standard. As of March 2008 genealogists can make use of the ISOGG Y-chromosome tree although the YCC and/or FTDNA may issue one of their own too shortly.

How many markers do you need? How accurate is it?

The more markers the merrier, although many people like to start with a low-resolution test and then pay for an upgrade if and when they got a low-resolution match, to explore it further. Since the individual mutations are random events, you might be 'unlucky' and have several mutations within your family tree. Studies so far indicate that close family relatives should be identical or near identical up to 37 or 43 markers. On the other hand it has happened that two brothers may differ although this would be very rare. At lower resolution (i.e. 10 or 12 markers), matches may turn out to be spurious as there is insufficient differentiation. This is particularly so if you come from the dominant haplotype group known as 'R1b' which is common in Western European ancestry. The tests are not yet accurate enough to prove 100% the exact generation in the family treee.

Most Recent Common Ancestor calculations

By using average marker mutation rates it is possible to compare two profiles and back-calculate how long ago their most recent common ancestor lived. This method is derived from anthropological science and although of some use, has a margin of error that reduces its usefulness in individual family history studies.

New developments

Whilst its benefits to genealogy may not be immediately obvious, there is growing interest in 'SNP' testing. Put simply, an SNP (single nucleotide polymorphism) is a rarer kind of mutation than the STR-based events that we normally test. They are the markers that divide up the human race's DNA tree at the high level and previously have been restricted to mutations which happen thousands of years ago. However in the early months of 2006 some very rapid progress was made in the discovery of new more recent SNPs that are helping to bridge the gap from thousands down to hundreds of years. One of the most exciting of these is the so-called 'Ui Neill' or 'Niall of the Nine Hostages' marker. Led by Ethnoancestry, this drive to unearth young SNPs could be the second revolution in genealogical DNA testing and will be of particular interest to those connected with the Scottish and Irish clans who have deep pedigrees stemming from the kingdom of Dal Riata.

Discovery of other sub-clades is continuing a pace and in some parts of the Y-tree the structure is now so complex that the notation system is in need of an overhaul, as no-one wants to grapple with a classification such as 'R1b1b2g3'.

One upcoming development which might enable genealogists to help in the discovery of new structure to the Y-chromosome tree is FTDNA's 'Walk on the Y' concept. This has yet to be launched but when it does, may enable a group of collaborators to test sequences of their chromosome to help discover new sub-clades between them .

Other more comprehensive DNA testing services which include a Y-chromosome genealogical testing element, such as those from '23AndMe' and 'DecodeMe' are still being evaluated by the experts in the field. At the time of writing (March 2008) it is unclear whether they will add anything to the field of genealogy testing. They bring with them medical testing aspects which some may feel an unwanted distraction, since previous offerings have avoided introducing any medical implications.

Links

Surname Projects

For an example of a large scale UK-based surname DNA project, see Clan MacGregor with over 300 members. This clan, who famously were forced to change their surnames at one stage, have now changed their membership rules to allow entry based on DNA matching only. Because of the special historical circumstances of this clan, the innovation may not catch on.

The Hamilton project includes 50 members with Ireland/Scotland ancestry and has an excellent, well-presented results page.

The Kennedy DNA project in conjunction with the Kennedy One-Name Study run from Glasgow with participants from Scotland, Ireland and England as well as Canada, Australia and the US. Recently someone from the Chiefly line of Culzean Castle has tested which is an exciting development for Kennedy genealogists.

Most of the surname projects features a mixture of UK/Ireland participants along with US members, some of whom trace their ancestry back to the UK/Ireland and some whose ancestry, whilst quite deep in cases, only traces back to the US so far. One of the most exciting aspects of these international DNA projects is the increased possibilities for matching up these groups by finding common DNA results between them and bridging the Atlantic gap. Just two examples are

Clan Donald USA is the largest of all currently, with over 570 in total (the UK total within that is not known).

Wilson has over 50 members from the UK, Ireland and US.

A search engine for all surname DNA projects can be found at http://worldfamilies.net

If you do not see your surname of interest on the World Families list, you may wish to consider starting your own. Most of the testing companies have facilities to help you do this, as does the WorldFamilies site.

UK/Ireland regional projects

Scottish Borders (Reivers) http://freepages.genealogy.rootsweb.com/~gallgaedhil/elliott_border_reivers_dna.htm

Shetlands http://www.davidkfaux.org/shetlandislandsY-DNA.html

Testing companies

UK

www.DNAHeritage.co.uk in Dorset offer a 43 marker Y-DNA test. You can purchase the second half of the markers piecemeal at $5.99 each once you have paid for the first 23. The 43 marker test is discounted if joining a surname project. Some limited SNP testing is also available. They have full support for running surname projects. They run a publicly searchable open database (www.ybase.org). Test fees are discounted if you join a surname project. They also have a Texas, USA office.

www.ethnoancestry.com is now a wholly UK operation based in Edinburgh and London and offers a 27 and 45 marker Y-DNA test, deep and detailed SNP testing and maternal mtDNA testing.

www.OxfordAncestors.com based in Kidlington offer 10 marker Y-DNA tests as well as mtDNA tests. Their products are more focused on 'deep ancestry' eg Viking descendancy and the resolution of their main Y-DNA test is not really sufficient for genealogical purposes except for 'negative proof' ie disproving a suspected link. Founded by Professor Sykes, author of the book 'Seven Daughters of Eve' and an early pioneer of scientific research of a family surname (his own, Sykes) using Y-DNA. They run a publicly searchable database of results but data is only from their own customers (http://www.oxfordancestors.com/members/ and login as 'guest'). There are a number of online forums on both Y and mt-DNA testing. Anyone who gets a match at OA will inevitably need to pursue the match with extra testing at one of the other companies. Worth looking at but probably not a first choice for genealogists.

Europe

FTDNA have opened a European office in Zurich and have Euro-priced offerings on the web site.

US

Ancestry.com's DNA offering has now taken over the previous offering from Relative Genetics with the same 43 marker Y-DNA test (marketed, rather misleadingly, as a 46 marker test) along with an mtDNA test. Test kits can be sent in from overseas. However their rollout of surname group testing is still pending as of early March 2008. Testers can find matches within the database and non-customers can upload their own results and look for matches but the database cannot be directly searched. Support is currently only available to Europeans during US office hours.

www.familytreedna.com  in Texas offer 12, 25 and 37 and 67 marker Y-DNA tests and hosting a large and growing number of surname projects plus some regional ones. Test kits can be sent in from overseas. They also offer mtDNA tests. They run a publicly searchable open database (www.ysearch.org) which allows the attachment of pedigrees to test profiles. Test fees are discounted if you join a surname project. There is an online forum for the general public and another one especially for project administrators.

Comparison

Here is a brief summary table comparing the testing companies. Please check direct with the companies for their latest prices. Don't forget to look at their group discount price if joining an existing surname project.

Name UK/US Y-test depth Database Forums mtDNA Group Discount
DNAHeritage UK,US 23-43* Yes No Yes Yes
Oxford Ancestors UK 10 Yes Yes Yes Yes
DNA Ancestry US 33,43 Yes  No Yes Launch pending
Ethnoancestry UK 27 No> No Yes No
FamilyTree DNA US/Eur 12,25,37,67 Yes Yes Yes Yes

*43 or buy 23 then order any other remaining ones individually

Free DNA tests

If your budget is tight there is a way to get a free test, if you don't mind a prolonged wait and a bit of a fiddle to get at the results. Visit SMGF. Expect to wait typically 6-12 months.

Databases searchable by surname or haplotype

www.ybase.org

www.ysearch.org

www.oxfordancestors.com

www.smgf.org (search facilities are restricted to protect privacy)

Other on-line resource links on DNA for genealogy

A number of new newsgroups have sprung up to support newcomers to the subject as the main GENEALOGY-DNA list was getting too heavy on the scientific detail.

There is an excellent Yahoo DNA Newbie forum.

The International Society of Genetic Genealogy have a Yahoo forum.

Meanwhile the older GENEALOGY-DNA list is still growing strong, but is probably no longer a first port of call if you are new to the subject:

http://lists.rootsweb.com/index/other/DNA/ Rootsweb DNA mailing lists. A selection of project DNA lists. The main list is at  http://lists5.rootsweb.com/index/other/DNA/GENEALOGY-DNA.html which is a very good moderated source although like all lists can go off-topic at times (e.g. 'deep ancestry' topics like origins of the Celts, Vikings etc). There are web archives if you don't want to subscribe to the email versions.

Charles Kerchner's DNA genealogy portal including his excellent genetic genealogy glossary.

Dean MacGee's page of utilities for analysing results

https://home.comcast.net/~whitathey/haplogroups.htm A summary of the origins of the major haplogroups

www.cyndislist.com/dna.htm A huge list of DNA genealogy resources.

Chris Pomery has a DNA genealogy portal here but has not updated it since 2002.

The World Families Network has a portal and FAQ on the subject.

Bibliography

Papers

Bryan Sykes, Catherine Irven. Surnames and the Y Chromosome, Am. J. Hum. Genet. Vol. 66 (2000) pp. 1417-1419. [A pioneering research project into mapping surname history using DNA. Dr. Sykes went on to found the Oxford Ancestors DNA testing company.]

Books, Introductory - generally aimed at the scientific layman

Chris Pomery. Family history in the genes (National Archives, 2007) is Chris's replacement for his earlier very successful book which is now out of print.

Chris Pomery. DNA and family history: How Genetic Testing can advance your genealogical research, The National Archives, (August 2004.) 168pp. ISBN 1-903365-70-8. This title is now out of print but the supporting website is still worth a visit.

Alan Savin. DNA for Family Historians. Published privately in booklet format by the author. 32pp. ISBN 0-9539171-0-X. [Available in electronic or printed format. On sale at the National Archives for £3.95. A rather short overview of the subject and mostly written in 2000 with minor updates in 2002/3.]

Megan Smolenyak. Trace your Roots with DNA Rodale Press Inc in 2004. 256pp. [Reviews from members of the DNA-GENEALOGY mailing list are positive.]

Stephen Oppenheimer. Origins of the British. 534pp. Published 2006 by Constable and Robinson.. [Oppenheimer's latest book on the genetic makeup of the British.]

Bryan Sykes. Blood of the Isles 400pp. Published 2006 by Bantam Press. [Sykes's latest book is a genetic survey of the whole British Isles and highly recommended although he uses his own terminology for the haplogroups.]

Books, Scientific

Mark Jobling, Matt Hurles, and Chris Tyler-Smith. Human Evolutionary Genetics. Garland Science Publishing (2003) 458pp. [This is quite technical but very useful for dipping into as a reference. There are several preview chapters online. New Scientist/Scientific American reader level.]

Last updated: 15 Apr 2008 - Iain Kennedy

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