Sunday, July 3, 2022

Using a Multidisciplinary Approach to DNA Analysis, Part 1

 

Note: This post was updated on 30 July 2022 with new information. 

Recently, I suggested to a person on one of the many genetic genealogy forums that you may be able to use Y-DNA, mtDNA, and X-DNA to narrow down a particular line of descent for an individual autosomal match. I was immediately rebuffed by someone who basically said the following, “Y-DNA, mtDNA, and X-DNA have no place in an autosomal DNA study.” 

I responded, “While the inheritance patterns of other types of DNA are different, they still can be used (in some cases) to determine possible lines of relationship.” The responder was not convinced and was agitated that I would even suggest such tactics. However, a multidisciplinary approach to DNA may aid in eliminating certain lineages from consideration when determining the origin of a match.  

I thought most folks who have dipped their toes into the genetic genealogical pool would have known this; however, after being involved in several discussions on this topic, I felt the need to author several posts in this regard.

The Larger Study

In the past, I have used autosomal and Y-DNA to determine relationships, but up until recently, I have not had the opportunity to use mtDNA and X-DNA to do the same. The examples found in this discourse are part of an ongoing study that uses autosomal DNA, X-DNA, and mtDNA from nearly 30 participants who are related to our ancestral couple: Ancestral Father (AF) and Ancestral Mother (AM).  

In trying to determine a particular genealogical problem of whether a person was the natural or adopted child of one of AF and AM’s children, I used autosomal and mtDNA to test a null hypothesis. The null hypothesis (names changed) was similar to the following: H0: Mary Smith was not the natural daughter of Jane Doe. By comparing the autosomal DNA from descendants of AF and AM and matching mtDNA transmitted from AM, the null hypothesis was rejected. Descent in this case was verified.

While this study is ongoing and we are still amassing evidence in hopes of submitting the finished product for publication, the surname of the family and all additional specific information concerning these lineages (including references and location) have been omitted to protect the original study. 

This has been done so that my work is not co-opted by another individual who has been known to plunder my research on this family and publish it online. I began this study during 2014 when I first became aware of several issues related to this lineage. This project involves a surreptitious narrative that is far more involved than the DNA analysis.

This isn't an analysis of this particular study per se; it is an exercise to show that using other DNA types can aid an autosomal study. So while the names, locations, and documentation of sources are absent, the techniques are present and that's what is important to this post.

The Current Problem

While working on the DNA analysis, we have identified two unknown individuals genetically related to this family: U1 – an adopted individual and U2 – who cannot be placed as of yet. It is believed that U2 descends from one of the Ancestral Mother’s siblings. Until more information is available, it is uncertain how U2 is connected to the family. 

This tangential part of the study was conducted to aid U1 in identifying her birth mother. Therefore, our task is to narrow the possible lines of descent for U1’s birth mother that may possibly lead to her identity.

Background of the Family 

While AF and AM had 11 children, three failed to attain the age of majority and their names are currently unknown. These additional children were listed in the number of children born to the mother in both the 1900 and 1910 censuses. Seven of 11 children were listed as living in the 1900 census and six of 11 were numbered as living in the 1910. E-Prime (E0) died before 1900 and her sister A-Prime (A0) expired prior to 1910.

Of the eight children who attained majority, one son never married nor had any known issue. Descendants of six of the remaining seven children have tested. We are still attempting to attract descendants of the youngest child S-Prime (S0) to test. While S0 had two sons and two daughters, neither of her daughters produced issue. Twenty of AF and AM's 35 grandchildren produced issue; descendants of 14 grandchildren are current participants. We are still soliciting participants to strengthen our original study's results.

The known children of the ancestral parents are as follows:

  • E-Prime (E0) – daughter, born 1856; 8 participants
  • K-Prime (K0) – daughter, born 1858; 2 participants
  • J-Prime (J0) – son, born 1862; 9 participants
  • Son, born 1864 (no issue)
  • A-Prime (A0) – daughter, born 1867; 3 participants
  • W-Prime (W0) – son, born 1869; 3 participants
  • F-Prime (F0) – son, born 1871; 2 participants
  • S-Prime (S0) – daughter, born 1875; no known tested descendants

Additionally, there are several others in this project

  • Six descendants from AF’s surname lineage: X1-X6, with four descended from AF’s siblings.  
  • Two likely descendants of J0 (not in the data presented). These two share sizeable amounts of autosomal DNA with J0’s descendants as well as to descendants of J0’s wife’s sisters.  
  • Two unknowns: U1 and U2.

It is also noted that all the descendants of E0 and K0 share double relationships. Additionally, the grandchildren (E1, E2, & E3) of one of E0’s sons share double relationships with all the descendants of J0. Finally, the descendants of the oldest daughter of W0 share double relationships with the descendants of the oldest granddaughter of A0. None of these double relationships impact the results of this present analysis.

With U1, it is possible narrow down her birth relationship to two possible lines, but we are still soliciting family members to test to determine her mother’s exact identity. In this discourse, I’ll show how we are using autosomal, X-DNA, and mtDNA in an attempt to narrow the possibilities.

Autosomal DNA

In looking at the triangulated segments between U1 and others represented in this project, it is obvious that U1 is related to, if not descended from, AF and AM. The triangulated segments are listed below. 

We have also separated the triangulated segments between U1 and only those descended from A0. We’ll elaborate on this in the next paragraph. I have also separated out a triangulated segment between U1 and two descendants of a sister of AF. This is somewhat inconclusive, as the relationship could come through one of U1’s other lineages. 

The amount of DNA U1 matches with various tested individuals narrows to one child of AF & AM who is the likely ancestor of U1. In the chart below, except for the matches with J1 (at 50.6 cM) and E2 (48.6 cM), the larger matches are found among the descendants of A0. 

J1 is three generations from AF and AM. Her father was the last born grandchild of AF and AM and places her a generation or more above all other participants; therefore, she would likely share more than others at a further distance. As far as E2 (a brother of E1 and E3), he generally shares higher amounts of autosomal DNA from this ancestral couple than others descended from his great-grandmother with the exception of a second cousin (E6).

U1’s two largest autosomal DNA shares are with A1 and A3. Both individuals share 103.7 cM autosomal DNA and a little over 20 cM on the X-Chromosome. Using the Shared cM Project, the most likely predicted relationship for both A1 and A3 with U1 is that of second cousins, once removed. A2 is predicted as a third cousin, once removed. While other relationships are possible, these better fit the scenario in question. Therefore, it is likely that U1 descends from A0 – the fifth known child of the ancestral parents.

X-DNA

While the data from our analysis of 17 X-DNA matching segments among the participants is currently inconclusive, there are some possible theories that could be further tested. The chart below shows the X-DNA inheritance of 12 tested known descendants of AF and AM. F0’s living descendants are not present due to a double male lineage that negates the transmission of X-DNA in the living descendants of F0. It is possible that some of the untested descendants of one of S0's sons will have additional X-DNA matches. This remains to be seen. 

In the above chart, the circles represent females and squares represent males. The pink circles and squares represent X-DNA only coming from AM. The purple represents X-DNA possibly inherited through both AF and AM. The half purple and gray represent X-DNA inheritance that comes from AF, AM, and/or a shared paternal relative in the descendants of E0 and K0. This is not germane to this analysis, but it is to the original research project.

The 17 segments are depicted below. Pay particular attention to the eight matching segments with A1 and the three matching segments with U1. 

Note: The matches represented are inter-prime families and not intra-prime family. For example, the matches are shown for E5 and E6 with J5; however, the 11.6 cM match between E5 and E6 is not shown. 

The matches in black between the descendants of E0 and K0 are probably from a relationship outside of AF and AM’s family. E0’s children are first cousins to both K0’s daughter and her husband (the son of E0’s sister-in-law).

Any matches with J0’s and W0’s descendants are from AM and could come from her mother, father, or a combination of both, but not through AF. The matches between E0’s descendants an A0’s descendants could come from AF’s mother, AM’s parents, or any combination thereof.

The longest X-DNA match (in red) is between E5 and A1 at 41.9 cM. However, A1’s match to E5 has overlapping matches with J3 and J4 (in light blue) at the beginning of the segment and overlapping matches with W1 and W2 (in dark green) at the end of the segment. The overlaps would come from one or both of AM’s parents. It is noteworthy that A1’s matches with this family cover most of the X-chromosome – only 35-40 cM is not represented by one of her X-chromosomes. 

E5’s match with U1 does not correspond with A1’s match with W1 and W2. This signifies that at least part of E5’s match with U1 comes from either the other parent of AM or from AF’s mother. This may be the case with part or all A1’s match with U1. At this juncture, it is impossible to tell, but we are continuing to look for other possible X-DNA participants. 

Since A3's match with U1 is not triangulated with anyone else, this segment could have been inherited through a spouse of one of A0’s descendants and not directly from AF or AM.  

At this point, the X-DNA analysis is inconclusive; however, additional X-DNA matches may shed additional light on the connection. What we can conclude is that U1 matches E5, A1, and A3 on the X-chromosome through lines that share the unique transmission of X-DNA.

mtDNA

As mitochondrial DNA is passed from mother to child, we are fortunate to have three participants that share the same mtDNA haplogroup (K1a4a1) with their ancestral mother AM. They are E8, K1, and A3. These three individuals have an unbroken female descent from AM. 

Fortunately for this exercise, U1 also shares the K1a4a1 haplogroup. Before we proceed, there is a caveat. Just because there is a matching haplogroup, this is not conclusive by itself as coming directly from AM. It could have been passed through an unrelated ancestor or someone with deeper ancestry to AM’s family.

While this haplogroup could be shared from descendants of AM’s sisters, we can partially eliminate this possibility. AM had two sisters reach maturity. One could not be located after 1850. Additionally, her name is not listed in her mother’s 1879 will. Unfortunately, we cannot rule out that she lived beyond 1850 and produced issue. This will always be a possibility until her death without issue is confirmed.

The other sister had four daughters and a son. We can rule out the son, as he could not pass his mtDNA to his children. Of the four daughters, it does not appear that shared mtDNA was passed to present descendants through any of these children.  

  • Daughter One – had one daughter who produced one son.
  • Daughter Two – only had one son.
  • Daughter Three – had one daughter who produced no issue.
  • Daughter Four – had a son and an adopted daughter.

This, along with the larger match with A0’s descendants, mtDNA strengthens the theory that U1 is a female line descendant of A0.

Conclusion

The amount of shared DNA between U1’s and AF & AM's descendants indicates that U1 is descended from this couple. There is also matching mtDNA that is consistent with AM’s mtDNA.

Other considerations include the following inconclusive results:  

  • U1’s matching to two descendants of AF’s sister (which may or may not come from other lineages),
  • The possibility of inheriting X-DNA from AF’s mother, and 
  • The lack of likely mtDNA matches among the known descendants of AM’s traceable sister. 

As the amount of autosomal DNA shared with A1, A2, and A3 indicates descent from A0, let’s look at the possibilities in A0’s family. 

A0 and her husband produced six children – four sons and two daughters. Three sons died as children. The remaining son (A0b) is the ancestor of A1 and A2. He can be eliminated, as he could not pass on his mitochondrial DNA. Additionally, A0b produced 11 children who all lived to the age of majority.

The eldest daughter (A0a)  had two sons. These sons could not pass their mtDNA to anyone.

This leaves the third child (A0c) – a daughter who was the great-grandmother of A3. 

A0c had nine children – all attained the age of majority. Five sons can be eliminated.

That leaves four daughters: A0c3, A0c6, A0c7, and A0c8. 

A0c6 is A3’s grandmother who had one daughter – A3’s mother. Any relationship through this lineage would produce a larger amount of shared autosomal DNA. This line can be eliminated.

A0c3 left the family home prior to 1940 and moved to New York City. She and her husband produced no children.   

A0c7 had one daughter who remained in the local area at least through 1999 and may be living there presently. She would have been 27 at the time of U1’s birth.

A0c8 also had one daughter – she would have been 21 at the time of U1’s birth. She remained in the same county where U1 was born and where the adoption occurred. She only moved to a neighboring county as a senior citizen.  

In the above possibilities, the relationship of U1 being born to a daughter of A0c7 or A0c8 would make her a second cousin to A3; a second cousin, once removed to A1; and a third cousin to A2.    

While a share of 103.7 cM is low for second cousins, the range for relationship according to the Shared cM Project is 41-592 cM. The average share for this relationship is 229 cM; therefore, 103.7 cM is consistent with other second cousin relationships.

This exercise allows us to narrow down possible individuals to test. Although this project did not set out to find the birth family of an adopted child, it has provided us this opportunity. The narrowing down the approximate ancestry of U1 required us to use genealogical records and a multidisciplinary DNA approach.

With autosomal DNA pointing to descent from A0 and without the use of mtDNA, the exercise would have required us to consider numerous lines in A0’s family. By using mtDNA, we narrowed the possibilities to only two lines instead of a possible 22 (2 children from A0a, 11 from A0b and 9 from A0c). 

I hope this has shown that, by using other forms of DNA in tandem with autosomal DNA, a multidisciplinary approach may be able to narrow your search to a smaller number of possible connections. 

Tuesday, January 22, 2019

My Hot 100



The other day, Blaine Bettinger looked at his top 50 matches across four testing companies.  He was careful to note that his analysis only included individuals that he didn’t personally test.  The results are posted the Facebook group Genetic Genealogy Tips & Techniques.  I was impressed with this tactic.   

Taking advantage of a snowy day, I decided to look at my top 100 matches that I hadn’t tested or hadn’t influenced to test, as there are over 60 family members that fit this category over all platforms – with some having their results uploaded to FTDNA and MyHeritage. Since I was involved with the music business early in my career, I named these matches as my "Hot 100" as an homage to Billboard

I decided to look at these 100 matches two ways: by the testing company and by the possible connection via one of my grandparents.  Match sizes ranged from 43cM to 315cM. 

BY COMPANY

Ancestry

Ancestry’s large customer base was probably the reason the bulk of my matches were found in their database. Seventy-four of my Hot 100 tested with Ancestry with 70 of those being unique to their database. Both my mother and I were Ancestry beta testers in 2012. I added my wife, who had tested previously at 23andMe. Being that she was adopted, I was hoping to find a relative to her birth father, as we knew her birth mother. We found her paternal first cousin in 2018 via an Ancestry match. We also found several maternal first cousins as well.  In addition to the three kits that I manage, there are five close relatives I’ve influenced to test who are on Ancestry.

23andMe

Fifteen of my Hot 100 were found at 23andMe with 12 being unique to this company.  I began testing with 23andMe in 2010 and have 27 kits on this platform. Additionally, there are three other customers who I’ve influenced to test. Up until 2013, I primarily used 23andMe as my autosomal testing company of choice; however, the subscription pricing model which they adopted several years ago and later dropped was my reason for moving to FTDNA as my primary testing source. 

MyHeritage

The newest autosomal company in the mix, MyHeritage, produced 13 matches with 10 being unique to this company. I have one test and several transfers from my surname lineage at MyHeritage. Several of these unique participants are related to me twice. I will further address this below.

FamilyTreeDNA (FTDNA)

FamilyTreeDNA produced five matches with only one unique to the FTDNA database. I often test family members with FTDNA and the bulk of my new participants test at FTDNA, as I often test the males with my surname with Y-DNA, so it is important to take care of both with one kit and sample. All my 23andMe tests and one Ancestry test have been transferred to FTDNA making a total of 58 kits from my family on FTDNA.

I had someone ask me the other day why there were so few of my matches from FamilyTreeDNA. I was surprised by the low number as well. My guess is that both Ancestry and 23andMe do a considerable amount of advertising on TV, radio, and online and this has a profound influence on consumer behavior.  MyHeritage has done some online advertising as well. I can’t say that I’ve ever seen or heard an ad for FTDNA.  

LivingDNA

While LivingDNA's matching application is in it's beta phase, I have one match and this individual, who has also tested with FamilyTreeDNA, is within the Hot 100. 

Multiple Testing Companies/GEDMatch

Like Blaine, I didn’t find many individuals in my Hot 100 who tested at multiple companies: only seven in total.  One tested at 23andMe and FTDNA, one tested at Ancestry and MyHeritage, one tested at Ancestry and 23andMe, one tested at 23andMe and MyHeritage, one tested at FTDNA and LivingDNA, and two tested at three companies: one with Ancestry, MyHeritage, and FTDNA and the other with Ancestry, 23andMe, and FTDNA. 

As far as those uploading to GEDMatch, I have five individuals I haven’t tested who match at 43cM or higher. Unfortunately, I cannot identify three of these individuals due to the aliases being used.

BY CONNECTION

In this exercise, I decided also to determine the common ancestor of my Hot 100 matches. While this was not always possible, I was able, in most cases, to identify the grandparent through which the connection was likely to have occurred.  These assumptions are not conclusive, as the matches may be through a completely different line.


Unknowns

Twelve percent of my matches were identified as unknown paternal (3%) and unknown maternal (9%). Further delineation of the relationships were impossible to ascertain due to the subjects not matching others in my family. The basis of whether these individuals were maternal or paternal was determined on whether the subjects matched my mother or not. My father died decades before the advent of commercial DNA testing.  

All 12 matched me and at least one of my brothers. It appears that by not matching my known second cousins and half-cousins (or anyone else who was closely related to me and my siblings) that the common ancestor might be further back in time than others in the Hot 100.

Paternal Grandfather

The connections to my paternal grandfather, George Hood Owston (1879-1924), are the smallest known group overall. While I’ve concentrated my research with targeted testing on my surname lineage, very few (10%) who are related through my grandfather have tested on their own. Four of those are descended from my grandfather’s brother, Ovington French Owston. 

My paternal grandfather: George H. Owston, circa 1905

Paternal Grandmother

It doesn’t surprise me that the majority of the Hot 100 are related to me through my paternal grandmother, Lora Gardner Day (1874-1953).  I realized this with my first test through 23andMe in 2010 and chalked it up to her Colonial New England ancestry. Many of these matches may be related to me through several different colonial lines. 

In addition, seven of these matches are through my grandmother’s first marriage which produced three daughters who lived to the age of majority. My father was from her second marriage.  Most of these matches are descended from my father’s half-sister Ruth while one each is through his half-sisters Nathalie and Blanche.  These rank at 1, 2, 4, 6, 17, and 84. 

My father with his mother, Lora Day Owston, circa 1924
 
Because of the age difference between my dad and his sisters and with me being the youngest of 14 grandchildren of my grandmother (and the only one born after her death), I only met six of my 11 half-cousins who were born between 1917 and 1943. Only three are still living. Facebook has opened the possibility  knowing my cousins’ children and grandchildren from this side of the family.

Mixed Paternal Grandparents

Some of my closest matches come from a unique relationship that connects to three of my great grandparents.  My grandmother’s sister, Susie Eva Day (1871-1946), was married to my grandfather’s uncle, John Freemont Merriman (1862-1941), the brother of Mary Emma Merriman Owston (1856-1895). This couple influenced my grandparent’s marriage in 1911.  John and Susie’s 12 children were first cousins to my father via his mother and first cousins, once removed via his father.  These individuals are among my strongest matches and many have tested at MyHeritage. Descendants of John and Susie Merriman ranked at 3, 7, 16, 18, 20, 52, & 62.   

Maternal Grandfather

Fifteen percent of the total are connected to my maternal grandfather, John Alva Brakeall (1883-1957). Many of the distant matches who have larger amounts of shared DNA may be due to being related to me through multiple lines, as my great-grandparents were second cousins. Most of these are more closely related through my great-grandfather, but two recent testers are more closely related to me via my great-grandmother’s brother, John Staley.  

Me and my maternal grandfather, Alva Brakeall, 1957

Maternal Grandmother

Finally, the biggest surprise is the number of matches through my maternal grandmother, Rose Pauline Schad (1885-1976).  Up until recently, there were no matches that could be connected through her lineage, as her family was our most recent immigrants to North America.  Additionally, my grandmother was 7/8 German and 1/8 French Waldenses who settled in W├╝rttemberg in the 1690s and who didn’t intermarry with local Germans until the early 19th century. Most of these matches are descended from the sisters of my grandmother or sisters of my great-grandfather.  Only one can be traced to our Waldensian connection.     

Me and my maternal grandmother, Rose Schad Brakeall, 1974

CONCLUSION

This was an interesting exercise that I hadn’t attempted in the past and it opened my eyes to the number of individuals who share DNA with me and our connections.  It was also helpful to see the importance of testing at Ancestry, as the bulk of my matches came from this company; however, 26% of my matches did not test at Ancestry. With this, it is important to test at all autosomal companies so that you wouldn’t miss any matches. Of the 19 individuals that matched at 100cM or higher, three tested only at MyHeritage and one tested at 23andMe. If you are only testing at one company, you may be missing important matches.