Wednesday 20 February 2013

Bargain-priced 12-marker Y-DNA test for WDYTYA

Family Tree DNA has announced a special low price for its basic 12-marker Y-chromosome DNA test for a "limited time period". The closing date of the offer has not been announced but the sale is timed to coincide with Who Do You Think You Are? Live, the world's largest family history show which takes place this weekend at Olympia in London. I shall be attending this show and helping out on the ISOGG stand (stand no. 400 near the DNA workshop area) so if you have any questions about DNA testing do come along and say hello. I shall also be doing a talk on "DNA for beginners" on all three days of the show as part of the drop-in DNA workshops. I will be explaining in detail the DNA tests that can be used to help with your family history research.

The official press release from GenebyGene, FTDNA's parent company, is given below. It should be noted that the 12-marker test is a low-resolution test. People can often have thousands of 12-marker matches, most of which will not be of any relevance in a genealogical timeframe. However, at the other extreme some people can have no matches at all at 12 markers. The basic 12-marker test will also give you a haplogroup assignment so if you are only interested in knowing your haplogroup this test would be a useful introduction to DNA testing. For genealogical matching purposes the standard entry-level test is now the 37-marker test.

Family Tree DNA Unveils $39 DNA Test in Major Step Toward Universal Access by Individuals to their Own Genetic Data

-- The world's lowest cost genetic test offers an introduction to the insights and knowledge to be gained from personal genetic and genomic research --

HOUSTON,  Feb. 20, 2013, the genetic genealogy arm of Gene By Gene, Ltd., is dramatically lowering the price of one of its basic Y-DNA tests to  $39, making it the lowest-cost DNA test available on the market, in order to take a major step toward universal access by individuals to their personal genetic data.

By dropping the price of its basic Y-DNA test by 60 percent to  $39, Family Tree DNA -- the world's largest processor of Y-DNA and full mitochondrial sequences -- is working to eliminate cost as a barrier to individuals introducing themselves to the insights and knowledge to be gained from personal genetic and
genomic research.

Family Tree DNA pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago, and has processed more than 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000.

The test investigates specific Y-DNA locations for males that provide individuals with their haplogroup, or the deep ancestral origin of the paternal line.  In addition, it can indicate if different individuals are likely to share a common male line.

Gene By Gene is also working to lower the cost of Family Tree DNA's comparable mtDNA test, which would be applicable to both females and males and provides data on the direct maternal line.  The company expects to unveil new pricing for this test in spring 2013.

As the sponsor [of the] DNA Workshop of "Who Do You Think You Are - Live" in  London this February, Family Tree DNA expects that the reduced price test will add a great number of individuals to its already large database - the largest of its kind in the world.

"We believe the first step to unearthing your personal and family history is to better understand your DNA," Gene By Gene President  Bennett Greenspan said. "That's why we are continuously investing in new  technology and experienced scientists at our Genomics Research Center, enabling us to conduct tests more accurately, efficiently and at lower prices.  Our  $39 Y-DNA test is just the latest example of how we are working to help individuals gain access to their genetic data."

Customer Inquiries
Individuals interested in Family Tree DNA's $39 Y-DNA test, or any of its ancestral testing products, can visit for more information.

About Gene By Gene, Ltd.
Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity.  Gene By Gene provides DNA tests through its  Family Tree DNA  division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago.  Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC  is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide.  Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in  Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact:
Kate Croft
for Gene By Gene, Ltd.
Casteel Schoenborn

SOURCE  Gene By Gene, Ltd.

Wednesday 13 February 2013

Richard III's malocclusion

The following has been sent to me by Deenagh Reynolds, a dentist who tells me she "put down her drill five years ago":
"I was surprised to find in the coverage of the identification of the remains of King Richard that no reference was made to the relationship in the skull of the upper and lower jaws and teeth. The photograph of the skull shows a mild malocclusion, with the lower jaw slightly more prominent than the upper jaw, the anterior teeth therefore meeting "edge to edge", instead of the much more common relationship where the upper anterior teeth overlap the lower teeth, normally by 2 or 3 mm.

Looking at the portrait of the skull one can see this same property in the profile of King Richard as shown by the artist.

Another tell-tale sign is the unusual wear on the incisive edges of the upper and lower incisors, again proving the characteristic malocclusion, which is variously known as a "mild Angles' Class Three", a "Hapsburg Jaw" and, in more recent times, a Churchillian jaw. It would be interesting to see other portraits of the King in profile, in order to check that this marked facial characteristic is evident.

A prominent chin is quite a strong genetic feature and may be evident in other members of that Royal House."
The Richard III Society held a press conference where they unveiled the specially commissioned facial reconstruction. The video can now be seen on YouTube and this provides the opportunity to view the face from a variety of different angles.

Monday 4 February 2013

Richard III - a king is found

I have been fascinated by the story of Richard III ever since reading the intriguing historical detective story The Daughter of Time by Josephine Tey many years ago. I was therefore glued to the computer this morning watching the BBC's livestream of the Richard III press conference when the results were announced of the five-month investigation into the findings from the archaeological dig in the now world-famous car park in Leicester. The research has been an extraordinary multidisciplinary effort involving the work of experts in archaeology, history, genetics, osteoarchaeology and engineering. The lead archaeologist Richard Buckley announced to cheers from the world's press that "It is the academic conclusion of the University of Leicester that beyond reasonable doubt the individual exhumed at Greyfriars in September 2012 is indeed Richard the III, the last Plantagenet king of England." The full story can be read in an article on the BBC website entitled Richard III dig: DNA confirms bones are king's.

The University of Leicester has today launched a new Richard III website with further information on the research. There is currently an incomplete page of multimedia resources but it looks as though there will be some very interesting videos added to this page in the days and weeks to come, and we can probably expect to see a video of the full press conference for those who missed it.

Genealogy research was crucial to the investigation. The researchers were able to trace two direct matriline descendants of Anne of York, Richard III's sister, both of whom provided DNA samples for mitochondrial DNA testing.  One of the descendants chose to remain anonymous. The second descendant is a Canadian by the name of Michael Ibsen who is now living in London. The genealogical research was greatly facilitated by earlier research by the historian John Ashdown-Hill, and the line that he established has now been independently verified. An outline of the matriline can be seen here. Professor Kevin Schürer, the University of Leicester's Pro-Vice-Chancellor for Research and Enterprise, discusses the process in this YouTube video:

The full details of the DNA testing have not yet been revealed, so we do not yet have confirmation of the haplogroup and we do not know how much of Richard III's mtDNA could be sequenced. However, Michael Ibsen's mother, the late Joy Ibsen, had her mtDNA tested several years ago and we know that she belongs to haplogroup J, one of the rarer mtDNA haplogroups. Assuming that these earlier results were accurate we can, therefore, infer that Richard III is also haplogroup J. The University of Leicester website includes a stunning electropherogram showing the matching mitochondrial DNA results of Richard III, Michael Ibsen and the anonymous donor. There is already a large haplogroup J project at Family Tree DNA and, once the DNA results are known, it will be interesting to see if anyone in the project matches the Richard III DNA signature. Ideally for genealogical matching purposes we require a sequence of the full mitochondrial genome (all 16,569 base pairs). However, because of the rarity of haplogroup J and all the overwhelming evidence from other sources, a partial match would be sufficient in this particular case. Michael Ibsen and his sister do not have any children and their mtDNA line will, therefore, become extinct upon their death, demonstrating once again how important it is to obtain DNA records while you still have the chance.

The researchers are also hoping to extract some Y-chromosome DNA but this research is still in the early stages, and it will probably be some time before we know if this is possible.

Channel 4 has been following the dig and the subsequent research for the last five months and a programme will be shown tonight at 9.00 pm (UK) called Richard III: King in the Car Park. A preview can be seen here:

I wonder if the exciting discovery of the remains of Richard III will now open the doors for a scientific investigation of the remains of the two skeletons discovered under the stairs in the Tower of London in 1674 which are thought to be the bodies of the Princes in the Tower. The bones were reburied in Westminster Abbey but the Queen and the church authorities have refused previous requests to exhume the bodies.

See this thread on the Genealogy DNA mailing list and a further follow-up thread for a discussion of the mtDNA results.

Update 6 February 2013
The Richard III press conference can now be seen on YouTube.

Update 8th February 2013
James Lick has used his mtDNA haplogroup prediction program to analyse what is known of Richard III's mtDNA sequence. See his blog post "Analyzing the mtDNA of the presumed Richard III skeleton with mthap" and the follow-up blog post in which he suggests that the inferred haplogroup is most likely J1c2c. The J1c2c haplogroup has been confirmed by Dr Turi King in an article published in Science News.

Update December 2014
The scientific paper with the results of the DNA analysis has now been published. See my blog post Richard III and the use of DNA as evidence for further details.

Useful links
The following links might also be of interest:
- Leicester University's Richard III website
- Richard III: The King in the Car Park (Channel 4 website)
- Press release from the University of Leicester
- Press release from the Richard III Society
- The University of Leicester's Richard III Facebook page
The Richard III Society
The University of Leicester's Greyfriars Project website
Live updates from the This is Leicestershire website
Facial reconstruction shows how king may have looked
- Richard III: The twisted bones that reveal a king
- BBC 4 Today interview with the historian John Ashdown-Hill
- The Last Days of Richard III and the Fate of his DNA: the Book that Inspired the Dig by John Ashdown-Hill
- Wikipedia article on the exhumation of Richard III
- Now is the winter of our uncertainty made glorious summer by this sun of journalistic zeal by Julian Champkin

© 2013 Debbie Kennett