Wednesday, September 3, 2014

Technology Catches Up

DNA Macrostructure
Anatomy & Physiology, Connexions Web
site: http://cnx.org/content/col11496/1.6/, 19 June 2013

In 1992, I still had a weighty argument that my mother's father was Frank Louis Strukel, despite her 1946 birth certificate naming Eldon Duane Miller as such. I continued my research into the Strukelj family of Slovenia. I hired a researcher to comb the Catholic church records south and southwest of the Slovenian capital city of Ljubljana, in what was historically the Duchy of Carniola. I embraced my one-quarter Slovenian heritage and was able to identify all of Frank's sixteen great-great-grandparents, all born in the decades around 1800. For seven of those individuals, I had identified their respective parents, taking my Slovenian family tree back to the middle of the eighteenth century. For Eastern European ancestry with limited hands-on resources on this side of the ocean, I thought I had done quite well.

But I was still tormented by the "what if...?"

Paternity testing came into being with the advent of blood typing in the 1920s, and although this means of identification is horribly crude, I tried to discover the blood types of all parties involved. Besides my mother's known A-negative blood type, I could not ascertain the blood types of the remaining people involved. I had even asked Helen to identify her blood type when she was alive as a part of a medical questionnaire I had obtained during my early days of genealogical research, but she had absolutely no idea. If she didn't even know her own, it was doubtful she had even the slightest notion of Frank's or Eldon's blood type. The thought of seeking out past medical records crossed my mind, but the logistics and privacy laws seemed daunting, and I had presumed any medical records of Frank's before 1968 had long since been destroyed.

Paternity testing into the 1980s became more accurate with a variety of other new tests. The discovery of proteins on white blood cells shared by parents in the 1960s, as well as other advances in molecular biology, raised the likelihood of confirming paternity to almost a 90% accuracy. But firstly, these were out of convenient reach of the young inquisitive genealogist in northern Indiana, and secondly, for the best accuracy I needed a living father to test against my mother, regardless of who he might be.

But that all changed in the 1990s. The discovery of various genetic markers that can be passed unchanged from parent to child started appearing in scientific journals, legal cases, and in the media. The Y-chromosome passed from father to son could be proven to be relatively identical in long ancestral lines of men. Dr. Michael Hammer of the University of Arizona published an article in the January 1997 of Nature illustrating that male descendants of Jewish priests carried identical and unique markers on their Y-chromosome that differentiate them from others. In 1999, Bennett Greenspan, a genealogist, was stubborn enough and forward-thinking enough to pester Dr. Hammer to help him test multiple male members of the same surname of his mother's family that lived in Europe and South America. Their Y-chromosomes matched. Genetic genealogy was born.

At the same time reports of another kind of DNA was surfacing in scientific journals. Mitochondrial DNA (mtDNA) is a form of DNA that occurs in the body of the cell and not in the nucleus, so every person carries many, many copies of it in every cell of our body. The mtDNA in the sperm is destroyed upon conception, so the human fetus develops with an exact copy of mtDNA from the mother only. Men and women both carry mtDNA in all of their cells that is an identical copy of their mothers. This mother in turn carries the same mtDNA of her mother, and so forth. Because this type of DNA is so ubiquitous in the body, it can be isolated far easier than other types of DNA, and it can be retrieved from long-dead biological specimens such as teeth, bones, and hair, making this a type of DNA that is not only identifying but laboratory friendly. It was first used in a legal case in Tennessee in 1996 to help convict a man of murder. And it was used as recently as 2012 to help identify the remains of Richard III, dead over 500 years.

Fascinating? Yes! 

Practical? No.

I was one of the few people who read these scientific studies with delight. My genealogical and medical background made it the most beautiful marriage of disciplines. And long before it was a commercial reality I had contacted a fellow researcher in 1998 about using mitochondrial DNA to resolve a long-debated genealogical research quandary. I was a genetic genealogist before being a genetic genealogist was cool.

But if Y-chromosome testing could confirm the relationship from a father to his son; and mtDNA testing could confirm the relationship from a mother to any of her children; how would any of this help me? I was looking to confirm the relationship of a living daughter to a deceased father.

So I put this question to Dr. Thomas Shawker in an email in 1998. He was one of the early lecturers of DNA technology and its benefit to genealogists. And frankly, family members who are presently reading this blog might be shocked that this paternity issue so plagued me that I was contacting geneticists in the late 1990s. There was no other family member that doubted the assertion that Frank Strukel was my mother's biological father. And there was plenty of evidence to back up that assertion. And as stated previously, I believed it too. But it doesn't mean I didn't want to prove it. That's just how I roll.

Dr. Shawker's response indicated that I could still benefit by the old standards of paternity testing, and that by testing my mother and all four of her siblings, an assessment of various biological markers could tell me with moderate certainty what set of children belonged to what father. For hundreds, even thousands, of dollars. From laboratories who would accept specimens only through approved physicians or legal agencies.

Thousands of dollars? Laboratory visits for five individuals in different states who would think me crazy for even contemplating the doubts I had lodged menacingly in my brain? For moderate certainty? No thanks.

But I knew there had to be an answer to my questions rooted in genetic testing. It just took time for the scientific community to catch up with my needs. The first direct-to-consumer DNA testing company, GeneTree, emerged in 1997, but its first few years were devoted mostly to paternity testing. Sorenson Molecular Genealogy Foundation, founded in 1999, bought them up in 2001. They in turn were acquired by Ancestry.com in 2012 to help successfully launch their AncestryDNA. But again, their initial offerings were tests for Y-DNA and mtDNA - neither of which were suited for my problem.

FamilyTreeDNA pushed the consumer model and really became the go-to laboratory for genealogist seeking DNA testing, offering their initial Y-DNA and mtDNA testing to the public in May 2000.

DNA became the scientific and genealogical buzzword in the 2000s. The 2001 publication of Bryan Sykes, Seven Daughters of Eve, showed that mtDNA testing had taken the roots of mankind to just seven progenitor women (which has since been greatly modified). Surname projects in which male participants routinely tested their Y-DNA for comparison with others of the same surname was commonplace by 2003. The Genographic Project was launched by the National Geographic Society in 2005, offering consumer testing of Y-DNA and mtDNA for anthropological reasons, but it gave the regular guy on the streets a glimpse into his deep origins from man's original migrations from the plains of Africa.

But although I could apply this powerful tool to many other aspects of my genealogical research, none of it was applicable to resolving my dilemma of my mother's paternity.

Until 2007.

23andMe, a privately-owned biotechnology company, was founded in 2006 in Mountain View, California. They developed a saliva-based direct-to-consumer test that sequenced the DNA on all twenty-three of the human nuclear chromosomes; including our twenty-two autosomes and our one set of sex chromosomes: XX for women, XY for men. Their first test was offered to the public in November 2007, and although quietly revolutionary for genealogists, the test was marketed more for health analysis. Several new scientific studies had shown a genetic predisposition for certain diseases based on biological markers on a variety of our autosomes. If 23andMe could sequence those markers for the consumer and identify the presence of various markers known to increase disease susceptibility, they could provide a sort of educational and health awareness tool for anyone interested. The concept, and the science behind it, won the company Time magazine's Invention of the Year in 2008. 

But aside from the health information, it was found that large chunks of autosomal DNA are passed from parents to offspring in a predictable manner. And those parents had in turn received half of their DNA from each of their parents. And so on, and so on, and so on. So it became obvious that predictable amounts of autosomal DNA should be found between ANY of our relatives - not just a father to his son, or a mother to her children. Plain and simple, if my mother were the daughter of Frank Strukel, half her autosomal DNA would be "Strukel DNA." If she were the daughter conceived resultant of one final reluctant tryst in Helen's dying marriage to Eldon Miller, my mother would be half "Miller DNA." And I did not need Eldon nor Frank to be alive, because the DNA my mother carried would also be predictable comparable to her siblings. Although Carol and Dianne presumably shared the same parents - Frank Strukel and Helen Timmons - they would only share roughly 50% of their DNA in common, because they would have gotten a different half jumble of autosomal DNA from each parent. But since Carol supposedly shared only the same mother with Jerry, Ted, and Sandy - and a different father - she would only match them by approximately 25%.

A very important aspect of genealogical research had now been scientifically reduced to a numbers game. And I was in love with it.

Finally I was presented with the tool I so desperately needed for the problem at hand! Finally, finally, technology had caught up with me!

And so in 2008 I had a direct-to-consumer, no frills, no fuss, no muss, immediate way of testing my mother and her four siblings.

For $999.00 per test.

Technology had caught up with me. My bank account had not caught up with technology.

FamilyTreeDNA jumped onto the autosomal DNA bandwagon in May 2010, and AncestryDNA did the same in 2012. Consumer competition and improving laboratory techniques drove prices down, and by 2013, an autosomal DNA test from any of the three company's had dropped to $99.00.

On 28 July 2013 I ordered my first two tests from 23andMe. One for me. One for my mother.

My genetic journey had begun.

4 comments:

  1. Okay, you've had me hooked from your first post! Please don't make me wait too long to find out the results from the DNA testing :)

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  2. You've got me hooked, too. I can't wait to see how your story ends. I'm just getting into DNA myself.

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  3. I know. I know. I'm late to this party. But were there no living male Miller or Strukels to get Y-DNA from, if the object was to determine paternity?

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    Replies
    1. Testing a male Miller or male Strukel would do me no good, as I am looking for the father of a woman: my mother. My mother has no Y-chromosome with which to compare!

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