Showing posts sorted by relevance for query Autosomal. Sort by date Show all posts
Showing posts sorted by relevance for query Autosomal. Sort by date Show all posts

Friday, March 2, 2012

Where Should I Have My Autosomal DNA Tested?

How does one pick out a lab to test one’s autosomal DNA for genealogical purposes? For the last two years the two preeminent testing labs for autosomal testing for family historians have been Family Tree DNA (FTDNA)  and 23andMe. FTDNA also offers Y-chromosome and mitochondrial DNA tests. 23andMe also tests for markers which influence certain health conditions. Ancestry’s approaching entry into autosomal DNA testing offers us a good time to reflect on what each of them have to offer.

When a grandson was born in summer 2010, my first task when I arrived at the curb by the hospital was to receive a vial of his blood to rush to FedEx so that it could be overnighted to a lab for a DNA test. It was a test for a specific gene which is associated with a heritable condition present in my daughter-in-law’s family which according to the NIH, “causes a disruption of the heart's normal rhythm…. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death.” Fortunately, my new grandson did not test positive for the variant.

The test of a small portion of my grandson’s autosomal DNA was not a test for genealogical purposes; and it was not conducted by a lab that offers consumers DNA testing for family history purposes. However, it highlighted for me a significant difference in focus between DNA testing for medical conditions and DNA testing for genealogical exploration.

Bennett Greenspan and his colleagues at FTDNA have long understood that DNA testing for genealogical purposes was not about the specific results that came out of the lab. Rather it was about the comparisons that could be made with others who were potential relatives. Therefore FTDNA has long emphasized the creation of databases which allow comparisons to be made with others who have tested and in encouraging projects into which those tested could be homogeneously grouped by surname, haplotype or geographic origin.  FTDNA offers opportunities for additional matching by hosting two databases, ySearch and mitoSearch, which allow free cross comparison of Y-chromosome and mitochondrial matching no matter which lab conducted the test. FTDNA has offered long offered accessible customer service—both through its staff and through its system of volunteer project coordinators. FTDNA has also enriched its databases by offering reduced rates to encourage those who had tested at other companies but were interested in adding their data to FTDNA in order to be able to compare their personal results with others in a large database.

23andMe blurs the line between testing for health information and for genealogy. The company was launched in part to create a large database of those who have been diagnosed with Parkinson’s. Sergi Brin, co-founder of Google, is the spouse of Anne Wojcicki co-founder of 23andMe; and he has announced that he is genetically predisposed to get Parkinson’s. After 23andMe had its own “Netflix moment” a couple of months ago and upset many genealogy clients. Wojcicki stepped up to the plate and seemed to respond to many of the concerns of the genetic genealogy community. It would appear that the previous troubling announcement grew out of a business plan and mindset which worked well for those who tested to explore potential health conditions based in their genomes. For them, once the absolute values of various genes were documented, being part of a large database was thought to have diminishing appeal. However, for genetic genealogists, the absolute values found at various locations had little value unless they could be matched against a database—and hopefully a very large database. Such varying interests appear to have led 23andMe to have a different world view and business plan than that of FTDNA. Hopefully, Anne will continue to listen, and we will see a somewhat different business plan emerge during 2012 that values continued access to a large and growing database of customer results. Now back to my original question.

Ancestry has long offered Y-chromosome DNA tests. While I love Ancestry’s database offerings, I have not been enamored with their DNA service. They have not approached the level of post-testing support which has been the hallmark of FTDNA. As a result I have had mixed feelings about the signals coming out of Provo that Ancestry was gearing up to offer autosomal DNA tests. I now wonder if the autosomal market will be further splintered. Consumers generally benefit from competition in the marketplace. In many ways the competition between 23andMe and FTDNA has been beneficial to customers of both. However, as I have already said redundantly in this post, being able to compare results with the largest number of other individuals is extremely important for genetic genealogists. Only very recently have we been able to move 23andMe results into the FTDNA autosomal database and make comparisons. I’ll have more to say about this in another post very soon.

As you select a lab to test the autosomal portion of your (or of your relatives’) genome to further your family history research, keep in mind that an essential part of your benefit is gained by the ability to compare the results—both now and in the future—with the largest possible database of others interested in genealogy. With that caveat in mind, I welcome Ancestry’s entrance into this segment of the genetic genealogy market. You can follow this development on CeCe Moore’s blog.

Wednesday, May 26, 2010

More Autosomal DNA, DNA Part 7

Autosomal DNA testing, for genealogical purposes, was first offered to the public earlier this year. We are still in the beginning stages of learning how to best apply it to further our family history research. It is predicted that such testing may be able to identify some relationships as far back as fifth cousins. In this kind of testing men and women are on a level playing field. One thing is becoming clear in the early days of testing. This kind of testing seems to rely even more heavily on well researched family trees than have the earlier types of testing. No longer can one assume that at match lies on the paternal line as is the case in y-chromosome testing. Likewise, one cannot assume that a match lies on the maternal line as is the case in mitochondrial testing. It can be on either of those lines or on any line in between.

If autosomal testing turns out to live up to the promotional promises of testing labs, most of us will have a hard time taking full advantage of the power we are being offered. Rather than being the “magic bullet” that by itself reveals our family trees, it re-emphasizes the need for traditional genealogy research. Experienced genetic genealogist Larry Vick stated it this way, “Whether we use Relative Finder, Family Finder, or both most of us need to do a much better job on our pedigrees to get more value from either test. I plan to spend a week at the Family History Library this summer beefing up my pedigree."

What is the probability that patrons will share enough DNA with a relative that it will be detected by autosomal testing? If you are related within five generations (3rd or more recent cousins) then autosomal is almost sure to detect your relationship. Testing may also detect many 4th cousins and a few 5th and more distant cousins. Early experience with autosomal testing by both FTDNA and 23andMe indicate the following chances of finding a match based on a biological relationship within the last few generations:









So if someone is a 4th cousin or closer, there is a good chance they will be detected in autosomal testing. Farther back detection of matches is a long shot but possible. The main problem is that even those of us with well researched pedigree charts rarely know who all our 32 great-great-great grandparents are. They would be the ancestors we have in common with a potential 4th cousin. In addition, the potential 4th cousin would also have to have documented who their 32 great-great-great grandparents were as well. Beyond this generation some matches will occur. In fact many will show up in the results of an autosomal test because we have many more potential living cousins as we go back a further generation of two. However, the likelihood of identifying a connecting ancestor becomes remote.

[To review previous posts on DNA in this series, click on the Label: "DNA Testing" just below this post and then scroll down through the series.]

Friday, April 25, 2014

Autosomal Dominant Inheritance: Brugada Syndrome


This is the first installment of a special two-part edition of this blog to commemorate DNA Day and a grand event that resulted in a special delivery today. Part one describes a serious health threat. Part two, Our DNA Day Miracle, will be an upbeat response to that threat. 


In recent years our family has been introduced to the Brugada Syndrome. The Mayo Clinic tells us, "Brugada (brew-GAH-dah) syndrome is a potentially life-threatening heart rhythm disorder."




The National Institutes of Health (NIH) is more explicit:

What is Brugada syndrome?
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. Brugada syndrome usually becomes apparent in adulthood, although signs and symptoms, including sudden death, can occur any time from early infancy to old age. The mean age of sudden death is approximately 40 years. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than one year. It is characterized by sudden and unexplained death, usually during sleep.
Brugada Foundation

How common is Brugada syndrome?
The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. 
What genes are related to Brugada syndrome?
Mutations in the SCN5A gene cause Brugada syndrome.
How do people inherit Brugada syndrome?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. 


Autosomal Dominant Inheritance

Most of you are familiar with the normal rules of autosomal inheritance. Half comes from the father and half from the mother. At each location on the autosomes each parent, in a seemingly random process, selects for transmission to the child one of the two values each of them inherited from the grandparents (their parents).



In the case of disorders carried by autosomal dominance, the children are affected if they inherit an affected gene from even one parent. Bottom line: each child of an affected parent have a 50% probability of inheriting the disorder. As you know if you flip a coin 4 times, there is a possibility that it will come up heads all four times. Likewise it is possible that the couple in the above illustration will have 4 unaffected children. The odds against that happening are 16 to 1. Those are the same odds that all 4 children will be affected. The most likely outcome, the one illustrated above, is that 2 children are affected and 2 are not. The odds of getting exactly that result turns out to be 6 in 16.

For anyone becoming a parent is a very serious endeavor that involves life changing commitments. For adults carrying a gene for a serious disorder that is inherited in an autosomal dominant pattern, becoming a parent is much more problematic. This situation is compounded by the fact that we are just learning about many disorders like Brugada which are inherited in this way. In the specific case of Brugada, affected individuals may be asymptomatic until they near 40. As a result they may have already made and acted on their decisions to become a parent. Unless the disorder has already been discovered within the family, there may be no advanced warning. 

If Brugada (or another autosomal dominant disorder) is discovered couples wishing to avoid transmitting the disorder now have a cutting edge option. I'll be giving an example of one such case in the second part of this special DNA Day post.

Saturday, April 24, 2010

Autosomal DNA Testing, DNA Part 5

Although Y-DNA and mtDNA are potentially powerful tools in breaking through barriers that documents research is unable to dissolve, these tools only address a very small part of one’s total family tree. As researchers focus on earlier generations of their ancestors, the fraction of the preceeding generation these tools can help with plummets precipitously. While they can give a male information about both his parents, they return inform on half of his grandparents, one-fourth of his great-grandparents, one eight of his great-great-grandparents. You will recall from our discussion above that DNA samples provided by women yield information on only half that many ancestors.

To help find information on all the grayed-out ancestors in the middle of the pedigree chart below, testing of autosomal DNA is being introduced to the public in 2010.


Autosomal DNA certainly does not replace traditional methods of genealogical research. In fact quite the opposite is true. Those who have been involved in the beta tests of autosomal testing as it has been preparing for public launch have been motivate to renew their efforts at traditional genealogy in order to take advantage of the information uncovered in autosomal testing.

If an autosomal match is found, additional information is needed to understand where this match connects to you in your family tree. The match itself just tells you that you likely share some common ancestor with the other individual. The magnitude of the match will give you some idea how many generations back the match occurred. However, unless BOTH you and your matched relative have extensive documentation of your family histories, you are not likely to discover how you are related.

At present two US companies, Family Tree DNA and 23andMe offer such testing to the general public. Family Tree DNA calls it's product "Family Finder" and 23andMe calls it's product "Relative Finder". More on autosomal DNA will be posted soon. [To review previous posts on DNA in this series, click on the Label: "DNA Testing" at the bottom of this post and then scroll down through the series.]

Thursday, May 3, 2012

AncestryDNA is Here



I just got an email notice that AncestryDNA has launched. If you read the document linked in the previous sentence, you will note that as of now it is only being offered to current Ancestry.com subscribers. Even for the million or so of us, the offer is being phased to spread out the anticipated demand. Apparently the offer is going to be made to those of us who signed up in advance to be notified. For those that did make that request, we must wait for a specific invitation to order. 


Is there really going to be that much initial demand or is this just hype to get us to rush to order? Only time will tell. 


What appears to be offered is an autosomal test. This means that it is a test that both women and men can take on a level playing field. At least initially, the price seems right. It appears that $99 will be the initial price. That's about one third what similar tests from FTDNA (FamilyFinder) or 23andMe (RelativeFinder) have been charging. Of course 23andMe has offered that as an entry price if an monthly subscription fee is agreed to. 


As with most things, the devil is in the details. Will Ancestry get DNA testing right this time? Their track record with Y-chromosome DNA testing was less than outstanding. Although the launch of this new autosomal test has been clouded in secrecy, Ancestry has certainly made a big investment in this product launch. Only time will tell if the company understands that when it comes to applying genetics to family history research, customer service and helping customers match with others is more important than the science of DNA. 


If this new service gets any traction in the marketplace, expect FTDNA and 23andMe to respond in some way--possibly in the form of a price war. Both of them have offered autosomal testing for two years. 23andMe also offered testing for health issues including drug reactions. FTDNA also offers Y-chromosome (male on the paternal/surname line) and mitochondrial (both genders up the maternal line) testing that are more specific than autosomal testing bur only offer information on two of your ancestral lines.


If you are unclear about how autosomal DNA testing may be able to help you in your research and/or what its limits are, you should have time to educate yourself before you will have the opportunity to order a kit. I have several earlier posts on autosomal DNA. The most recent of them is linked here and you can follow the thread back in time. Also check out CeCe Moore's excellent blog, YourGeneticGenealogist which focuses on autosomal DNA research and interpretation. There is also a 23andMe Newbies discussion group on Facebook.

Have you DNA tested yet? If not, why not? If you have tested, what have you learned?

Monday, October 2, 2017

Test ALL family members even full siblings



Earlier this year I reported on what I was learning from the autosomal DNA tests of my three grandsons who are now 10, 7 and 3. I am continuing to learn more as I examine their results in different ways. They were all tested through MyHeritage and then their results were imported into FTDNA's Family Finder to be able to compare them more easily with other family members.

The earlier posts can be viewed: 
In this post I will comment on what I learned when I mapped segments of my grandsons' DNA using Kitty Cooper's tool and Family Finder's Chromosome browser. 




For those of you who do not personally know these fine young men, the takeaway from all of this is to realize how each inherited very different segments of DNA from each of their 4 grandparents and the one great-grandparent from whom we have a DNA sample. The implications of this for genetic genealogists are that when we are administering autosomal tests we should test as many family members as possible. Even full siblings will have quite different match results. 

Numbers of matches reported will depend greatly on the extent to which autosomal DNA testing has penetrated the geographic and ethnic groups from which the test takers descend. In the case above, one grandfather is Ashkenazi and his spouse comes from another area of Eastern Europe but is not genetically Ashkenazi. The differences in their numbers of matches is astounding. These match numbers carry down two generations to their grandchildren. It depends on how much of their autosomal DNA each of the grandchildren inherited from each individual grandparent.

Oct 1st, 2017
Matches on Family Finder
Ashkenazi
Simon
5,999
26%
Noah
4,944
22%
Benjamin
3,732
15%
Monika Deutscher Katzel
502
0%
Lester Katzel
12,787
97%
Dave
3,306
0%
Arlene
2,427
0%
Shana (Katzel) Dowell
6,930
42%
Frederick Deutscher
466
0%

When you are formulating a DNA testing plan, administer an autosomal DNA test to as many family members of each generation as you can possibly afford to test. Each person tested will contribute something to the family mosaic. The results in all families will not be as dramatic as in this family but the results that each additional person contributes can be just as significant.


As a postscript, the contribution shown above for grandmother Monika could also be attributed to her mother as her father's contribution is accounted for separately. 

Monday, October 3, 2011

DNA Projects: It's NOT Just About Individual Results


I'm finally comprehending something that my writing partner, CeCe Moore, has understood for a long time. CeCe blogs as Your Genetic Genealogist. She has tested several family members. By comparing who (and how much) each known family member matches those whose relationship are unknown she can learn much more than she can when she just compares her own results with the match for whom she is trying to discover the actual relationship.




I have long understood this with Y-chromosome studies. I have been able to recreate the 111 markers that my 6th great-grandfather, Philip Dowell would have if we could find exactly where he is buried in that church yard is Southern Maryland, dig him up and test his DNA. Philip died in 1733. More details on the current status of the Dowell/Dewell Surname DNA Project is scheduled to be published in one of the next two issues of






My learning opportunity has come as I examine the autosomal DNA test results for my wife Denise and her sister Michele. As most of your know Y-chromosome and mitochondrial DNA often is passed down unchanged for many, many generations. Not so with autosomal DNA. It changes significantly with each inter-generational transfer. Most individuals share about 50% of their autosomal  DNA with their siblings. Denise and Michele share about 45%. Therefore the matches that they get on their autosomal tests at 23andMe are different. 




As of this morning, Denise had 707 matches and Michele had 797. They each have many matches not shared by the other. If you are familiar with 23andMe, you will understand that we will never learn the identity of a majority of these matches. Many of those tested there did it for the medical information and have no interest in genealogy or have privacy concerns that keep them from communicating with others with whom they have a match. 

So far we have only been able to find that Michele matches two of the ten individuals with whom Denise has the longest matching segments. 

From Denise’s list:
Denise
Michele
Potential Cousin #1
3 segments, 
0.77% shared
1 segment, 
0.22% shared
Potential Cousin #4
1 segment, 
0.34% shared
1 segment, 
0.19% shared

As we continue to contact those with whom the sisters share identifiable segments of autosomal DNA, we will probably fill in other shared connections. However, this preliminary comparison has been an eye opener for me. I knew autosomal DNA was fickle, but I am only beginning to understand how randomly it is distributed from one generation to the next. It takes the results from multiple family members who are known to be related to begin to piece together a coherent picture.

Tuesday, May 25, 2010

Autosomal DNA Testing Continued, DNA Part 6



If you have studied a little genetics you may know that each person has 23 pairs of DNA chromosomes. Twenty-two of those pairs---the autosomal DNA---are what give us our unique characteristics. They are inherited differently than are y-chromosomes if one is male or the mitochondria for both sexes. Y-chromosomes are passed directly from fathers to their male off-spring without mixing with the genes of the mother. Likewise, mitochondrial DNA is passed directly from the mother to all her offspring without mixing with the genes of the father. In this direct transmission, both can pass down unaltered through many generations. That is the norm. The rare copying errors in these intergenerational transfers are what allow us to trace different branches of the human family.


The transfer of the 22 pairs of autosomal DNA from one generation to the next is quite a different process. Each of the parents has 22 PAIRS of autosomal DNA. Only about half of the DNA from each pair of parental chromosomes can be passed on to a given offspring. Generally, the DNA contained in each pair of parental chromosomes is shuffled (like shuffling a deck of cards) before it is passed on. Both the father and the mother contribute their DNA. In this process about half of the characteristics of the mother and about half of the father are transmitted. But, which half?

If this couple has another baby, the mixing process is repeated again. Again each parent contributes to the process. However, after this mixing process is completed, the half of the DNA that is passed on to the second child may be quite different. Hence, the difference between siblings.


This mixing and passing down goes on generation after generation. During this process some strands of DNA remain intact and others are jumbled up into new sequences. Autosomal DNA testing, for genealogical purposes, is looking for intact strands of DNA that are similar between individuals. The more such strands that are shared by two individuals, the closer their biological relationship is thought to be.

[To review previous posts on DNA in this series, click on the Label: "DNA Testing" just below this post and then scroll down through the series.]

Sunday, April 10, 2011

23andMe has early DNA Day Sale

CeCe Moore in a post on her Your Genetic Genealogist blog today provided information about a sort of under the radar sale by 23andMe. As some of you know know April 15th has been designated DNA Day. Family Tree DNA (FTDNA), a partial competitor of 23andMe,  has been trying to create buzz on Facebook by saying that it will announce a sale on DNA Day if its page attracts 12,000 "likes" by then. It appears that 23andMe has fired a preemptive shot.

If you are thinking of getting a DNA test, this competition may be good news. However, a word or two of caution is appropriate in understanding the offerings of the two companies. They only compete head on on some of their products.

23andMe offers autosomal DNA testing and testing for certain health related genes. The results can be used to predict mitochondrial (maternal) haplogroups for everyone and both mitochondrial and Y-chromosome (paternal) haplogroups for males. Autosomal testing can also detect most relationships up to third cousins, about half of 4th cousins, and a few more distant cousins. It cannot help you follow particular paternal (surname) or maternal lines as some other tests assist. Basically autosomal testing is good for close relationships in recent generations. Under the current marketing plan, 23andMe requires a monthly subscription for ongoing access to your data and any new developments. It also offers health questionnaires and correlates the results with the DNA of members to try to identify new relationships between genes and health conditions.

FTDNA offers autosomal testing for both males and females similar to that offered by 23andMe. For now at least, FTDNA requires an upfront fee for testing but no ongoing fee for access to their database. In addition to autosomal testing, FTDNA offers a range of Y-chromosome tests from the entry level 12 markers to the recently announced 111 markers. These tests are very useful for paternal surname projects. FTDNA also offers three levels of mitochondrial tests that can be taken by both males and females. These are useful in determining deep ancestry for both genders along their maternal line (mother's, mother's mother's....line).

While the two labs offer some similar products, each offers some that the other does not. Their pricing strategies are different--at least for now. So if you are about ready to test, carefully examine both the product lines and pricing structures. But do it quickly. 23andMe's sale will probably be over before the sale begins at FTDNA later this week. An over-simplification of the differences between the two is that FTDNA offers tests more specifically aimed at genealogists but 23andMe offers tests of interest to genealogists and offers some direct to consumer health information as well. Check out CeCe's blog because 23andMe may not be showing the sale on its site yet. If you have had experience with either or both labs, I would appreciate your comments below.

All of us benefit from the competition. For now at least it is difficult to make direct comparisons of test results from one lab to the other.

Sunday, June 30, 2013

Which Autosomal DNA Test Should You Take?


The DNA testing marketplace continues to evolve rapidly. What would cost about $400 just 3 years ago can now be purchased for about $99. It is hard to imagine that this level of price cutting can continue. But wouldn't it be nice for us DNA junkies if they could? Not only could we take more tests. Many more potential cousins would add their information to DNA databases.

Until FTDNA's just announced Sizzling Summer Sale, it was cheaper to take 23andMe's test at $99 and then transfer your downloaded raw data to FTDNA at $69 than it was to pay full $289 for Family Finder. Now that FTDNA has (at least for the next few weeks) reduced Family Finder to $99 this economic incentive may not be as strong. However, starting with 23andMe and transferring your data allows you to fish in both databases for cousins. It also allows you to take advantage of the analytical tools of both companies AND the health related information of 23andMe. FTDNA allows 3rd party transfer from Ancestry's autosomal data as well.

However, FTDNA is the only company that accepts raw data from another lab test. It also is the only one that is now storing DNA samples for future testing. This can only be taken advantage of if FTDNA was the original tester of your sample. This is particularly important when the person being tested is elderly so that their sample is available for tests that may become available in the future. 


When you are on a limited budget, you need to weigh what you may learn from further analyzing your own genome vs what you potentially could learn from testing another family member. Y-DNA testing of a sibling (male) will generally give identical results as those of the first brother tested. With mitochondrial DNA testing this is true for siblings of both sexes. However, with autosomal DNA testing sibling testing does not give identical or near identical results. In general siblings share about 50% of their autosomal DNA. However, they can range from as low as 37% to as much as 63%. This is not critical if one is trying to match 2nd cousins or closer relatives. It does start to matter when one is seeking to find 3rd cousins or more distant relatives.

When fishing for cousins in any company's database, you and any of your siblings will be almost certain (more that a 99% chance) to match a 2nd cousin. At the 3rd cousin level your chances (and those of a sibling) for matching someone in a given database are about 90%. At this level of cousinhood it is still likely that you will be matching most of the same individuals that your siblings match. However, at the 4th cousin level, you and each of your siblings will have only about a 50% chance of matching a particular individual in the database who is in fact a cousin. Your match list and those of your sibling(s) will start to vary considerably. At the 5th cousin level and more distant very significantly. Each of you will match with about 10% to 15% of your actual cousins in the database but many of them will be different individuals. Beyond 5th cousins you will still get lots of matches because you have so many cousins at this level. However, you (and a sibling) will each have a less that 2% chance of matching a particular cousin in a database. 

Since the matching efficiency declines down this slippery slope with each generation, it is important to test the oldest possible member of your family for best autosomal results. This is only marginally true with Y-chromosome or mitochondrial DNA testing.

All of this is important to keep in mind when you are allocating your limited dollars and deciding which test to take AND which family member to test. 23andMe currently offers $20 off additional test kits when they are ordered at the same time. 

Happy testing and may you find lots of new cousins!
         

Wednesday, June 12, 2013

Autosomal DNA Transfer Sale


FTDNA has announced a limited time sale of transfers of your autosomal DNA test results from 23andMe (Relative Finder) and Ancestry. The advantages of so doing are primarily to allow you to "fish in another pond" for potential cousins who have tested at FTDNA but not at the service at which you have already tested and to be able to compare your all your matches with FTDNA's analysis tools. If you already have Family Finder results, you will gain only a very minimal benefit from such a transfer. Note below that earlier versions of 23andMe's Relative Finder test are not compatible with the upgrade process.

Autosomal DNA Transfer  was $99.00   now  $49.00
 ORDER NOW
The $49 Introductory fee will provide you with a Family Tree DNA personal page   which will allow you to:
  • View matches related within about the last 5 generations and predicted relationship ranges.*
  • See percentages of your ancestral make-up from 62 world reference populations such as Native-American, Middle Eastern (including Jewish), African, West and East European.
  • Confirm close relationships regardless of gender.
  • Generate additional genealogical information..
Please note, uploaded files are batched once a week then run through the conversion program. Results take between 6-10 weeks based on volume. You will be notified by e-mail when your results are available.
*You will be matched with others who have also taken the Family Finder test. However, if you come from an under-represented population, it is possible that you will not find matches right away. Your matches largely depend on how your DNA compares to our database. As our database is constantly growing, we will send you e-mail notifications about any new matches calculated to be third cousins or closer.
The 23andMe© V2 test, sold prior to November 24, 2010,is NOT compatible with our Family Finder product and is NOT accepted in the Autosomal DNA Transfer.
IMPORTANT: Your results from Family Tree DNA compared to another company's results will be similar, however, they WILL NOT be exact. Due to Family Tree DNA's proprietary algorithm your matches, centiMorgan totals, and centimorgan length will vary.
ATTENTION: If you are already a Family Tree DNA customer, please log into your personal account to transfer your third party results and avoid creating a duplicate record.

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.