Sunday, December 22, 2013

Another Adams Cousin



I have never had a shortage of cousins – particularly on my maternal side of the family. My mother was one of 14 Adams siblings who survived infancy. These included 10 girls and 4 boys. A 5th boy died within a few days of birth. My mom was the last surviving sibling when she died in 1998. It was interesting that of the 39 offspring these 14 produced, 18 of them were from the two oldest children. I think the timing of the Great Depression may have had as much to do with this difference in productivity as birth order but that is just speculation on my part.  

When I logged in to AncestryDNA last month, I was surprised to find the following result on my DNA page:
1st Cousin         Possible range: 1st - 2nd cousins    Confidence: 99%

The pedigree chart posted by this individual did not help me place this cousin among the twenty-five thousand or so individuals I currently have in my family tree database. The DNA information did not tell me whether this match was on my maternal or paternal side. However, the geographic locations in the pedigree chart of the “new” cousin strongly suggested this match was on my mom’s side. 

I sent an inquiry through the Ancestry message system and got this response from a person I will call Joe:

I believe ancestry.com is correct, but the exact connection may be difficult to pin down.  I was born 27 September, 1932, and adopted at birth by the parents in my ancestry.com family tree.  The doctor who delivered me was Dr. G. W. Carpenter, who I believe had an office in Utica, MO, at the time. Most of the people who had first-hand knowledge of my birth are now gone. I was reluctant to make inquiries that might embarrass anyone. A neighbor who grew up near Breckenridge vaguely recalled that my father was an Adams employed in a grocery store in Breckenridge, and my birth mother was a young employee.  As time permits, I'll try to find out more.

Only one other family member has been tested to my knowledge. That is a first cousin -- once removed who agreed to be tested so that I could establish the paternal haplogroup of my maternal (Adams) grandfather. My DNA sample establishes my paternal (Dowell) grandfather's Y-chromosome. Merrill's DNA had also been processed through the FTDNA Family Finder test.

It occurred to me that my new cousin "Joe" would be Merrill's uncle if Merrill's grandfather, my Uncle Frank, was also Joe's father. If instead Joe's father was one of the other Adams brothers, Merrill would be Joe's first cousin -- once removed. That is the same relationship I have with Merrill.
  

Since Joe had tested at Ancestry and Merrill at FTDNA, they had to be placed in the same database in order to analyze the nature of their relationship. Therefore, Joe downloaded the raw data from his test at Ancestry and uploaded it to GedMatch.com a free site that among other features allows autosomal results from a variety of labs to be compared with each other. I downloaded Merrill's raw data from FTDNA and uploaded them to GedMatch.

When Joe's results were compared with Merrill's, they shared about the same amount of DNA as I shared with Merrill as a 1st cousin -- once removed. An uncle would have shared much more with a nephew. Therefore, my Uncle Frank is also Joe's Uncle Frank and is eliminated as a candidate to be Joe's father. 

I talked to a first cousin who would have been six when Joe was born. She said she "had a feeling" that she had heard Uncle Bud might have had a child with a woman other than his wife. Even if he did this does not prove the child was Joe. Actually, we need to remember that the DNA results viewed to date do not eliminate the possibility that it was Joe's mother (not his father) who was his Adams connection. However, circumstantial evidence suggests that we are looking for an Adams father.

Our search is now focused on the three Adams brothers other than Frank. A child of one of the three (who is also one of my previously known Adams 1st cousins) has agreed to test. We should know that result sometime in February.  

Of the remaining two possible fathers, one never married and has no known descendants. We will be tracing the descendants of the other to see if we can find one willing to test.

Stay tuned for future developments.

Monday, December 16, 2013

When will you see BIG Y results?



When will we see the beginning of the SNP Tsunami from the large number of BIG Y tests many of you have ordered? 

Got a calendar on the wall for the first quarter of 2014? Got a dart? ;-)

I'm in batch 542 (see blog earlier post) which was originally predicted to be returned 12/31/2013. What great fun it would have been to decode Y-SNPs on New Years Eve!  This predicted date on my FTDNA page -- as many of you probably know -- has now eroded to 2/28/2014. The FAQ on FTDNA’s site has always said a less specific February, 2014.

On December 6th Janine Cloud, Customer Service Manager @ FTDNA wrote:
FYI: When a kit is batched it automatically gets an expected results date. Unfortunately, it is batch-specific, not test specific. There's not currently a mechanism to set that message by test type until AFTER it's been batched.

 For example, everyone knows that a Y-12 will get results faster than a Y-111, yet both get the same expected results date if they're batched at the same time.

 Since everyone who ordered Big Y already had testing done with us, the orders batched each Wednesday as usual, even though the test has not begun running yet. Consequently, those Big Y tests got the same expected results date as all the other tests in the batch. With regular tests, we don't know that the whole group of tests will not be ready at the end of that expected results dates, but with the Big Y we did, so rather than wait until the end of the block of time, we arranged for those dates to be changed up front to help mitigate some of the potential for frustration over the test not being completed by that initial date.

 Normally those dates are updated the day after the expected date, but in this case there was reason to wait until Jan 1st, etc. to make the change. 

Then a few days later from Thomas Krahn who used to manage the SNP testing in the FTDNA lab but now runs his own company:

Good news for Big Y! I was at FTDNA yesterday and Max has told me that they have the first successful runs in house completed. He didn't say on which machine they were running (MiSeq or HiSeq) and he didn't comment on possible barcoding problems, but this gives us hope that some customers may not need to wait until next year to see their results.

We have also discussed the transfer of customer samples. It is important that those who want their samples transferred need to contact Max directly (max@genebygene.com) because apparently a commitment from the FTDNA customer support is not sufficient. However if Max approves them himself, then there doesn't seem to be a problem that samples can get transferred. Usually 50ul are sufficient. However if there is a way to get a new sample, then both companies would prefer that method instead of a sample transfer. Only samples that cannot be re-done or where laws prohibit taking a new sample should consider the transfer.

Also good news for FGC customers: YSEQ has returned the first results to our customers today. Most of the FGC markers could be confirmed right away with Sanger sequencing. It seems that Greg has done a very good job with analyzing the data. In addition to that we have kicked out a bunch of SNP candidates on repetitive and X homologue sequences during the primer design phase, so that the remaining FGC markers were almost all a hit on the first try. Especially I'd like to point out the FGC5496 marker for R1b-DF13 researchers because it has also been confirmed in another sample of the 1000 genomes project. This marker is available at http://shop.yseq.net/ already.


If you aren't confused yet, you haven’t been paying attention! Let me know when you get your results.


Happy Holidays!!

Saturday, November 16, 2013

Did SNP R-M222 Spread from County Mayo?


Spencer Wells, Director of the Genographic Project (GENO 2.0) sponsored by National Geographic, is scheduled to travel to County Mayo this weekend to announce that it appears SNP R-M222 may have originated there. This gene is associated with Scots Irish descent. Dr.Wells is also expected to identify more that 20 more recent SNPs that branch the gene flows below R-M222. These findings should be of great assistance to Scots Irish researchers by helping them narrow the focus in their search for their ancestral homelands.

Friday, November 15, 2013

BIG Y Tests Begin Processing


At the moment I'm riding the crest of the BIG Y-SNP tsunami. Both my kit and that of my deceased father-in-law are showing on our respective personal pages at FTDNA as: 



So we seem to have made it into a batch that started processing on Wednesday. IF all goes well, I should have my results available to contemplate as I watch the ball drop on New Years Eve. 

It would be unusual if a project as "big" as BIG Y actually came off without a hitch and on schedule. However, miracles do happen. As some of you have heard me say, I was born in Missouri, the "Show-Me" state, and l an a slow learner. Therefore I believe most things two weeks after I see them. 

So the first batch may or may not come back on time. I'm not sure how often batches will be started. That depends on how many orders are received. So the second batch of BIG Y tests may be a decent interval behind the first.

With Y STRs my Dowell DNA project has been able to reconstruct the exact 111 marker results of my 6th great-grandfather Philip Dowell who died in 1733 in Southern Maryland. Where was he or his ancestors before he showed up as an established tobacco planter in the 1690s and where did he get all his "guY DNA?" My voyage of discovery takes on a new leg -- surfing the BIG-Y. 


UPDATE: FTDNA has posted this FAQ:

How soon will I have my BIG Y results?
We plan to release the first set of BIG Y results in February 2014.

Does anyone want to start a pool to predict the date I'll actually get my results?

Wednesday, November 13, 2013

ISOGG Group Gears Up For SNP Tsunami


The International Society of Genetic Genealogists (ISOOG) is a totally voluntary organization that does not charge dues. However, since 2006 it has been responsible for maintaining the Y-DNA Haplogroup Tree 2013 for researchers and testing labs around the world. The number of SNPs being discovered has been exploding since the end of 2010 and this is just the beginning. The recent wave of newly discovered SNPs have resulted from the Walk the Y, GENO 2.0 and 1,000 Genomes projects as well as the normal discovery processes of investigation by academics and citizen scientists.

End of year
Cumulative # of SNPs in tree
2006
436
2008
790
2010
935
2012
2067
Sept, 2013
3610


The tsunami has yet to come. Geno 2.0 has not yet published all its SNPs. Treasure troves of additional SNPs from FullGenomes and FTDNA’s Big Y tests loom just over the horizon. These have the potential to identify and place thousands of here-to-fore unknown SNPs. Many of these will be leaves toward the ends of branches on the Y-DNA Haplogroup Tree. They will be recent enough to connect with the documented trees by genealogists. 

In anticipation of this bounty and the chaos that may accompany it, those members of the ISOOG group who maintain this tree who were able to gather in Houston on Saturday planned for this event.  

Alice Fairhurst (center) leads the discussion. Members of her group in attendance (clockwise from Alice) are Richard Kenyon, Marja Pirttivaara, Michael Herbert, Sue Berry, Dr. D. (in red), Tim Janzen, Astrid Krahn and Thomas Krahn. (Photo courtesy of Katherine Borges)
It is clear that our processes need to be reorganized and streamlined if we are going to be able to continue to serve the genetic genealogy community and researchers in related disciplines in a timely basis.

Monday, November 11, 2013

FTDNA Conference: Part 1


I’m going to report on a few of the highlights of Family Tree DNA’s 9th International Conference on Genetic Genealogy which I attended in Houston this past weekend.  In this post I will discuss a completely new Big Y test and FTDNA’s holiday sale. Other highlights will have to wait for another day.

The big Y test has been a long time in the making. Back in June I had asked FTDNA’s CEO Bennett Greenspan if he had any advice for anyone thinking about ordering an “Early Bird Special of $1,250.00 USD” from FullGenomes new complete Y-chromosome test that was then just beginning to accept orders at $1250 a pop. Bennett responded in part that I could not blog about it but it might be wise to wait until he made a new product announcement in the near future that might be more cost effective. Saturday he made that announcement.


You may not notice in the fine print of the picture that this new test is discounted 25% from now until the end of November. The test is definitely not for everybody. Even at the discounted price it still costs $495. You can subtract another $10 off the price if you upload a GEDCOM file to your FTDNA page and copy the code you receive into your order page. 


Like any genealogy test you should only take this test with malice of forethought. ONLY ONE or at most two men who are closely related should take this test on behalf of other family members. You should consider pooling your money and sponsoring one person to take the test.


The new test is called the Big Y. Orders are now being accepted from existing customers only. You must be logged on to your FTDNA account to see the information about the test. For those of you that are somewhat familiar with Y-DNA testing, the values you are used to seeing on the 12, 25, 37, 67 & 111 marker tests are for short tandem repeats (STRs). Some of these values change every several generations so they are good for genealogists because they generally separate relatives from those with whom you are not closely related.


The new test is targeted to identify single nucleoid polymorphisms (SNPs). Our entire human instruction manual is written in our cells using a 4 letter alphabet which is reported to us at any given location as A, G, C or T. In the double helix of DNA mutations cause an A & G or a C & T to trade places. SNP mutations are generally a permanent change. 

The history of our ancestors' journey from the dawn of time is recorded in our cells. It gives us another tool that MAY help us demolish genealogical brick walls that have stymied our research. At least for now we are not using this tool to match will others. That may come later. Rather we are trying to refine the path from our ancient clans down into genealogical time--since most of us have had surnames). In this quest some of us will be successful and some of us will not. 

In my own case I can thoroughly document my 6th great-grandfather Philip Dowell who died in 1733. Enough of his current descendants have tested that we know what his exact 111 Y-chromosome markers were. But this still has not given us any real clues about where he and his ancestors were before he showed up as an established tobacco planter in Southern Maryland in the 1690s. His haplotype, as far as we have been able to break it down is very common in the British Isle--and to a lesser extent in other parts of Western Europe. I am hoping that this Big Y test will help refine this much further. I don't realistically expect that it will narrow down his origins to something as specific as one of today's zip codes. However, any clues would be appreciated after looking for his origins for almost half a century.

I'm also having the DNA of my father-in-law tested. His great-grandfather came from somewhere in Ireland to Chicago in the 1850s. He died in 1864 at the young age of 34 when his son was only 4. What few traces he may have left were largely destroyed in the 1871 Chicago Fire. To date he also has no close DNA matches that would help us pin down where in that island we should be looking for his point of departure.

This Big Y test may not be for you. However, if it is something that might help your research, it would be beneficial to act BEFORE THE END OF NOVEMBER. Of course if you are not yet an FTDNA customer you are not eligible to for the introductory price. However, FTDNA is offering a wide array of other tests at sale prices that will be available until the end of December. If you are trying to think of a present for a friend or family member who has everything, consider these possibilities: an initial test, an upgrade of an existing test, and two different tests in combination. 

If you are not sure where to begin testing or what a particular test might tell you, feel free to email me: InfoDoc [at] DDowell [dot] com or post a question in the comment box below. 

In my next post I will describe one of the interesting scientific questions that was raised at the conference.

Tuesday, November 5, 2013

How to Make a Human Baby for Dummies


Do not get the steps out of order!

Take a random sample of approximately 3 billion bases of DNA that broadly represent each of the 23 chromosomes from the nucleus of a cell of a female of the species. 

Take a random sample of approximately the same number of bases of DNA that broadly represent each of the first 22 chromosomes from the nucleus of a cell of a male of the species.

Recombine thoroughly. (Stir but don’t shake. No shaken baby syndromes allowed.)  

Chose the gender of baby:
a.      Add a Y-chromosome intact from the male to create a boy; or
b.      Add an X-chromosome intact from the male to create a girl.   

Add mitochondria from the female to energize the new organism.

Incubate in a warm womb for nine months. 


Warning: The next 18 years will be the roughest.



Sunday, October 13, 2013

Genealogy Roadshow Ends Tomorrow. Will It Return?


Apparently the Genealogy Roadshow production company is planning for the show to return to PBS next season. The final show for season one filmed in Austin is due to air tomorrow night. A website at www.grcasting.com is soliciting applications for next season. I can only assume that "grcasting" stands for Genealogy Roadshow casting.


Let's hope they are starting production early enough the second time around so that more DNA results can be included if appropriate. In the shows aired thus far this season the time schedule did not seem to allow testing results to get back from the lab in time to be included except for a couple of admixture reports. Although admixture reports can answer some genealogical questions, in most cases they are now the softest science in DNA testing. The DNA results are not wrong. However, the underling population studies are too scanty for most geographic areas to make highly accurate predictions that can be relied on to tie a set of results to specific locations at specific times.

DNA testing is not appropriate to answer all genealogical questions. However, it is strange that Who Do You Think You Are? went a whole season without any on camera testing and Genealogy Roadshow had only a token amount. Could this be because autosomal testing is the focus for Ancestry.com the lead corporate sponsor for WDYTYA? Autosomal testing is great for sorting out close relationships, but it is only one tool in the kit of a well prepared genetic genealogist.
  

Dr D's New Toy: Family On My Phone


I finally gave up my old Blackberry phone that I have had for years. My wife has been through several phones since I got "Dingleberry." On Friday, October 4th, she got a new Samsung Galaxy Note 3 "phablet" –a cross between a phone and a tablet computer. I then inherited her old Samsung Galaxy S 4 phone that has been out for a few months. By so doing I joined the Android world.



The next day I learned why I needed an Android. RootsMagic whose database programs I have been using for years to store and organize my genealogy data announced they were looking for beta testers for a new Android app. This app will allow you to upload a file of your genealogy information to your phone. I immediately signed up. I now carry about 25,000 relatives around in my pocket. I also carry about 12,000 of my wife’s ancestors.

This app is a reader only. While I can view the information, I cannot edit it on my phone.  While it is nice to be able to whip out my phone and look up some information, greedy me would like to be able to edit it on the fly and have it sync back to my desktop and laptop computers. Oh well, I’m sure that will be possible sometime soon.




For quite a while I have been using Dropbox to sync my desktop and my laptop. When I am at home I prefer to work on my desktop computer. When I want to sync to my laptop, I just need to make sure that I have closed all the files on my desktop and that they are saved to the Dropbox folder. Then I boot up my laptop and it immediately syncs any files I have updated or created since I last used the laptop. Not only does this keep my files in sync, it backs up my data so that I have copies in three places – in the cloud and on both of my computers.

For now I’ll have to be content just to read my genealogy information from my phone. It includes all the information including census notes and other notes on individuals. It now features pedigree, family, descendants and individual views. It is a great feature for “show and tell” to impress your friends. It is also useful to be able to lookup information on your family instantly no matter where you are and whether or not you have cell or Wi-Fi coverage and even if you are operating in that soon to be obsolete airplane mode.

There are still a few bugs in the app. The surname search feature seems to have redundant steps and sometimes causes the app to lock up. RootsMagic tech staff members have already asked for copies of my data so that they can work with it to test the search feature. I’m sure there are other bugs in it that I have not yet stumbled into.  However, I’m enjoying the ability to take my family with me where ever I go.

Tuesday, September 24, 2013

Genealogy Roadshow: Nashville




Last night the Genealogy Roadshow premiered with a stop at the Belmont Mansion in Nashville. 

GENEALOGY ROADSHOW is an engaging, innovative program that reveals the bigger picture of our nation’s past, present and future,” said Beth Hoppe, Chief Programming Executive and General Manager of General Audience Programming for PBS. “With a diverse mix of stories in each episode, GENEALOGY ROADSHOW appeals to Americans interested in learning about their family histories. It also shows that no matter one’s heritage and background, everyone has a place in history.

This is the first of four stops around the country. Next Monday the Genealogy Roadshow will visit Detroit. Following weeks will feature stops in Austin and San Francisco. The program airs at 9:00 PM (8:00 Central) on Monday nights on your local Public Broadcasting channel (PBS). For now only four segments have been filmed.  

The the first segment was fast paced -- almost too fast at times -- so that the stories of many everyday folks could be explored in one hour. Historical background segments were interspersed. No genealogy researcher can know too much history. 


If you missed the first episode or you want to view it again to soak up all the details, you currently can view it online.


Thursday, September 12, 2013

Legal Aftershocks Follow Myriad Genetics



If you have taken an autosomal DNA test at 23andMe, you know you have health related information available as well as family history information. It is this dual approach of enabling us to read the information in our cells that drew many of us to 23andMe.

Gene by Gene, the parent company of Family Tree DNA (FTDNA) also explores health information but through other subsidiaries. This business model can give a clearer focus on two sometimes disparate customer bases. The segregation of FTDNA from the health related activities of its parent company was in part a calculated strategy to protect direct to consumer (DTC) genealogy tests from the regulation of the Food and Drug Administration (FDA). As late as a couple of years, it looked like DNA testing for genealogy might get swept up in a push to keep DTC DNA kits from being sold at Walgreens. Some of you remember the aborted attempt by Pathway Genetics to sell kits over the counter for $20 back in 2010. The analysis of your spit was to cost extra. By the time the FDA finished "‘discussing’ legal issues with Pathway Genomics", the project was shelved. These discussions included whether or not the kit should be considered a "medical device" and therefore falling within the purview of the FDA. 

In June of this year the Myriad Genomics case was decided by a strangely unanimous Supreme Court. Did this make our genes free at last? Not so fast. Myriad was quickly back in court. The company's new legal thrusts were chronicled a few days ago by The Legal Genealogist. Dr. D is in complete agreement with every comment Judy Russell made in that well reasoned post. 

June 13th Myriad issued a press release with the technically correct but possibly misleading heading -- “Supreme Court Upholds Myriad's cDNA Patent Claims”. In that release Myriad stated,
BRACAnalysis testing is widely reimbursed by private insurance companies, Medicare and Medicaid. As a result of the Affordable Care Act, the vast majority of at-risk patients can receive BRACAnalysis testing with no out-of-pocket costs — meaning no co-pays or deductibles.
Somehow it doesn’t sound any better to me for Myriad’s artificially high prices to be paid for us by Medicare, Medicaid or our private insurance. Indirectly, this is paid by all of us.

Those of us who have spent considerable part so our lives on the West Coast know that when there is a large seismic event, it is followed a number of aftershocks before a new equilibrium is achieved. Such is true in the legal world as well.   

All this legal wrangling is about much more than BRAC1 and BRCA2. It is about all the right to read all the medically significant information in our cells. Did you know that you may already have health information available at FTDNA also? You do if you have had the full mtDNA test. This is why, with an abundance of caution, FTDNA does not automatically disclose to project administrators the detailed results beyond the HVR1 and HVR2 levels. Although our mitochondria have not yet been determined to carry much health related information, they do give important indicator about one fairly rare condition -- aminoglycoside-induced deafness. Some widely prescribed antibiotics can cause deafness -- often permanent in patients who carry the A1555G mutation. Research studies often exclude this gene from their panels because of the patents claimed by Athena Diagnostics. This includes large scale studies to correlate patient outcomes and drug reactions such as Vanderbilt's PREDICT project in which Dr D and his wife are participants.


Recent studies in China suggest that a C1494T mutation in the mitochondrial 12S rRNA Gene also play a role in maternal inherited aminoglycoside-induced deafness and also hypertension. If you have the results of full mtDNA tests, you already have been tested for these mutations. 

The future of you health and its cost may be affected by the current legal battles. I urge you to inform your self and defend your right to read your own genes at a reasonable cost. Join the Free my Genes movement!


 >

Friday, September 6, 2013

Where is Genetic Genealogy Going? Who is Driving the Agenda?


Several indicators suggest the genetic genealogy marketplace is in a state of flux. So what else is new?

What impact will the departure of Thomas and Astrid Krahn from FTDNA have on the company’s commitment to further explore the Y-chromosome? This is a particularly interesting question at a time when FullGenomes is on the verge of having actual customer results from its pricey first round of tests of the full Y-chromosome.
    
After the dust clears from the separation of Anne Wojcicki from Sergey Brin, it appears likely that 23andMe will not be seriously affected. Even though it is Anne’s company, it has been Sergey’s billions and Parkinson’s gene that have been the driving forces behind this company’s growth.
    
DNA testing has not been incorporated into any of the first seven segments of Who Do You Think You Are? Ancestry is a principal sponsor and the company's databases are prominently featured in most episodes. If it is Ancestry’s business plan to grow the DNA side of its business, this is a strange way to go about it.

Not to be left on the sidelines, Geno 2.0 apparently is fine tuning its marketing focus. Emphasis on the sale of its public participation kits will be concentrated in the English speaking world which in general is already to most tested part of the world.

Regional commercial ventures are springing up in various parts of the UK.

All of this makes it clear that our agenda is being set by commercial entities. That’s not bad. We would be nowhere without the framework they have created. Most of us do not want it to be set by various world governments which may be the primary alternative to the free enterprise system.


Where do you want our community to go in the next decade? Probably the next six months is a more reasonable time frame for a business plan in this marketplace. Or is it? How can we as consumers, both individually and collectively, best communicate our ideas – dare I say dreams – as to where we want genetic genealogy to move next? Does ISOGG have an opportunity for a more proactive role? Are there other venues for this discussion?

Sunday, September 1, 2013

Solving A Mystery With Women's DNA


Many still believe that only male DNA is useful for genealogical purposes. They need to wake up and smell DNA developments of the last 3 years. I recently helped a woman unravel an old mystery in her family using her autosomal and mitochondrial DNA test results. I will call her "Allyson" to protect the guilty dead and the living innocents. Here are some of the facts:

  • The adopted daughter of Allyson’s great aunt was thought to be a family member;
  • This adoptee was born in the 1920s;
  • The adoptee’s daughter, who I will call "Bertha", is alive and has taken a mitochondrial DNA test and a Family Finder autosomal DNA test at FTDNA.


Speculation within the family included:

  • This adoptee was the result of an illicit coupling of Allyson’s grandmother and her ex-husband long after their divorce;
  • This adoptee was the result of a teenage fling of Allyson’s mother.
  •  Allyson also has taken both a mitochondrial DNA test and a Family Finder autosomal DNA test at FTDNA.


The Mitochondrial DNA results:

Mitochondrial DNA is more definitive in ruling out potential relationships than in proving them. Their results could have ruled out Allyson’s mother and grandmother as potential mothers for Bertha’s mother. However, Allyson and Bertha are exact matches over all 16,569 locations on their mitochondrial DNA. They are the only exact matches for each other currently in the database. This means that the two share a direct maternal line (umbilical cord) ancestress probably within genealogical time. FTDNA says that such a match has a 50% probability of a common direct umbilical cord line ancestress within 5 generations and a 95% probability of a common direct umbilical cord ancestress within 22 generations. In this case the results do not prove how close the common ancestress actually lived, but they do add some credibility to the belief that this was an adoption within the family. Based on this result some hypotheses were formulated.

Research Hypotheses: 

#1. Bertha’s mom was the biological daughter of Allyson’s maternal grandmother and grandfather; 

#2. Bertha’s mom was the biological daughter of Allyson’s maternal grandmother and some unknown male – at least unknown to us; 

#3. Bertha’s mom was the biological daughter of Allyson’s mom and some unknown male.

No hypothesis was defined to include Allyson’s mom AND dad being the biological parents as existing letters clearly document that they did not meet until a few years after the birth of Bertha’s mother. On the other hand it can be documented that Allyson’s maternal grandmother and grandfather remained in contact long after their divorce.

Dick Eastman has famously blogged that there is no such thing as a ½ cousin. He quoted the venerable Black’s Law Dictionary to support his assertion. Well Dick, we would never be able to solve some of our genealogical mysteries unless we are able to split some cousins and other relatives in this manner.

If we want support for hypothesis # 1 above, we would need to find evidence that Allyson and Bertha could be 1st cousins. To support hypothesis # 2 above, we would need to find evidence that Allyson and Bertha could be ½ first cousins. If hypothesis # 3 above is correct Allyson would have a ½ aunt relationship with Bertha. In these three cases Allyson and Bertha would be expected to share either about 12.5% (1st cousins), about 6.25% (½ first cousins) or 12.5% (½ aunt). These percentages can be derived from the chart on the ISOGG Wiki: 

Cousin tree (with genetic kinship)


Relation with Adoptee’s Daughter “Bertha”
Maternal Grandmother is mother of Adoptee
Allyson’s Mother is mother
Maternal Grandfather is Father
Hypothesis #1
Maternal Grandfather is not Father
Hypothesis #2
Allyson’s father is not Father of Adoptee
Hypothesis #3
“Allyson”
1st cousin—12.5%
Half 1st cousin—6.25%
Half Aunt—12.5%
Male Cousin
1st cousin—12.5%
Half 1st cousin—6.25%
Half 1st cousin-once removed—3.125%
Female Cousin #1
1st cousin—12.5%
Half 1st cousin—6.25%
Half 1st cousin-once removed—3.125%
Female Cousin #2
1st cousin—12.5%
Half 1st cousin—6.25%
Half 1st cousin-once removed—3.125%

 Expected % of Shared Autosomal DNA 
for each Hypothesis

Oops! Using the autosomal data at hand we would not be able to distinguish between hypotheses 1 and 3. The expected amount of shared DNA would be the same in both cases. Fortunately there are three living 1st cousins of Allyson who might be willing to test. Two are female and one is male. In this case their sex would not matter because we have already established the maternal haplogroup of the adoptee. All we would need is their autosomal matches with Allyson and Bertha. These cousins would not add to our ability to distinguish between options #1 and #2 because their amounts of DNA shared with Bertha should mirror those of Allyson in both cases. Both Allyson and each of the 3 cousins should be shown to be 1st cousins with Bertha in #1 and ½ first cousins in # 2. So no increase in diagnostic ability is gained by collecting DNA from the 3 additional cousins.

But wait! We do not need them to help distinguish between #1 and #2. We might need their test results to differentiate between #1 and #3. Great! While Allyson would be a ½ aunt (sharing about 12.5%) in #3, the other 3 cousins would only be ½ 1st cousins (sharing about 3.125%) a significant difference. So it looks like it may be possible to collect enough information to solve this mystery.

The Solution:

Actually, it turned out to be quite a bit simpler than all that. As we saw much earlier in this saga, FTDNA predicted that Allyson and Bertha were 1st to 2nd cousins. For our purposes that is quite an extensive range. If they share matching segments that would be expected of 1st cousins, they would also share the amount Bertha would expect to share with a ½ aunt. But that is not the amount they share. They only share about ½ that amount. In this case it would have been easier to determine this if Allyson and Bertha had tested at 23andMe rather than FTDNA since the former reports matches in terms of % of match. FTDNA reports it in terms of centiMorgans (cMs) and SNPs matched. Although there may be handy conversion tables to translate these into % of match, Dr D had difficulty finding one. But he did find this one posted by Lindsay in her blog Confessions of a Cryokid:

According to Matt Dexter, on the FTDNA Forum, here is a breakdown of sum shared DNA ranges for various relationships:
  • Parent/child: 3539-3748 centimorgans (cMs)
  • 1st cousins: 548-1034 cMs
  • 1st cousins once removed: 248-638 cMs
  • 2nd cousins: 101-378 cMs

Although this table turned out to be very useful, it was compiled over 2 years ago. In autosomal DNA testing time that was almost light years ago. We now have tens of of thousands of more results that should have expanded our databases. Dr D would expect a currently compiled breakdown to show more overlap between the categories. 

Once the table in Lindsay's blog post was found, it showed that the 428.42 cMs shared between Allyson and Bertha were well within the expected range that would be expected for a 1st cousin-once removed relationship.

But 1st cousin-once removed is not one of the expected outcomes in the hypothesis table above. Or is it? Isn't it the equivalent of a ½ first cousin? I think we have a winner! The hypothesis that best meets the autosomal results is #2. The most likely biological parents of Bertha's mom are Allyson's maternal grandmother and an unknown male. Allyson's maternal grandfather seems to be ruled out as the biological father of Bertha's mother. Although testing additional cousins might lead to greater certainty, that does not appear to be necessary to identify the most likely candidate to be Bertha's grandmother. 

Saturday, August 31, 2013

Dr D Will Be Busy This Fall



Dr D will be busy this fall and may further neglect his blog posts. This next week he begins teaching a weekly genealogy seminar within our continuing care retirement center here in Nashville. The first 6 sessions will be the Readers Digest condensed version of his 2011 Crash Course in Genealogy.



In subsequent weeks we will tour Europe looking for the footprints of ancestors.

Beginning September 4th
at 2:30 PM in the Assembly Room

The first 6 sessions will be updates of the series presented in Spring 2012 on US Genealogy Research:

·       Seminar 1. Genealogy Overview
– September 4th

·       Seminar 2. Free search sites on the Internet featuring Google & FamilySearch
– September 11th

·       Seminar 3. 20th Century US Research
      [Thinking backward]
 – September 18th

·       Seminar 4. 19th Century US Research
– September 25th

·       Seminar 5. Colonial Research
– October 2nd

·       Seminar 6. Adding DNA Testing to your researcher’s toolkit
– October 9th


Going to Europe:  European research will be frustrating unless you have already discovered the town and/or parish of your ancestors’ origin, but you are welcome to go along for the ride.

·       Seminar 7. England & Wales – October 16th

·       Seminar 8. Scotland and Ireland – October 23rd

·       Seminar 9. Scandinavia -- October 30th

·       Seminar 10. Germany – November 6th

Additional sessions may include Eastern Europe, France and the Netherlands, and advanced topics on DNA testing for genealogy

In addition, Dr D will be on the other side of the lectern as a student at the Osher Lifelong Learning Institute (OLLI) at Vanderbilt University taking the course Science Behind the Medicine and Medical Advances.

Retirement is not for sissies!

Monday, August 12, 2013

The Genetic Gods Were Smiling


Last week the genetic gods must have been smiling on bloggers -- at least a couple of us. Judy Russell reported in her The Legal Genealogist blog that she had discovered her first "known relationship" through 23andMe

At about the same time I experienced my easiest "known relationship" find there. In this case it was not a match with me but a match between my daughter-in-law and a male predicted to be a:
2nd Cousin 3.57% shared, 12 segments
As you may know a match of this size is consistent with a second cousin match but it is also consistent with a first cousin -- twice removed. 

Those of you bucking for an “A” in genetics this semester may have already noticed one important thing about the matches shown below that made this genealogy mystery much easier to solve:


There is a significant match on chromosome X. Why is that significant some of you may ask? If you were paying attention above, I told you that the unknown potential second cousin was male. That means he inherited his entire X chromosome from his mother. Therefore, his match with my daughter-in-law must be on his mother's side of his family tree. This cuts in half the number of branches of his tree we had to consider.

It did not reduce the amount of my daughter-in-law's tree we had to examine. She had inherited one X chromosome from her mother; but she had also inherited one from her father as well. So I sent a list of her 8 great-grandparents to the wife of her match who was the family genealogist. The wife responded, "It's Homer and Hilda". Mystery solved!

His mother and the mother of my daughter-in-law are 1st cousins. I've had a few other successes at 23andMe but none this easy to achieve.

Thursday, August 8, 2013

Henrietta Lacks Revisited


When I first blogged about Henrietta Lacks a couple of years ago, I titled the blog "Right to Own Our Own Bodies". I'm on the road in Salt Lake City attending the Federation of Eastern European Family History Societies conference so this update post will be briefer than normal. However, this morning's news certainly warrants attention.

Several news outlets including The Guardian and Associated Press Francis S Collins, Director of the National Institutes of Health announced yesterday that an agreement had been reached with family members after six decades:

"Under the agreement, two family members will sit on a six-member committee that will regulate access to the genetic code.
"The main issue was the privacy concern and what information in the future might be revealed," David Lacks Jr., grandson of Henrietta Lacks, said at a news conference.
Jeri Lacks Whye, a granddaughter who lives in Baltimore, said: "In the past, the Lacks family has been left in the dark" about research stemming from HeLa cells. Now, "we are excited to be part of the important HeLa science to come."

Behind the scenes negotiations have been underway since March to reach this landmark arrangement. This follows on the heels of the Supreme Court decision in the Myriad Genomics case earlier this summer.

Finally some humanity is being used to guide this exploding new technology!