DNA Consultants Home of the DNA Fingerprint

Maybe If It's First Generation Sex-Linked Testing, Not Autosomal 

Dust off the crystal ball. Scientists consider DNA ancestry services “genetic astrology,” according to a recent BBC article by Pallab Ghosh. In “Some DNA Ancestry Services Akin to ‘Genetic Astrology’,” Ghosh quotes Professor David Balding as maintaining that ‘“such histories are either so general as to be personally meaningless or they are just speculation from thin evidence.’” One article, “Don’t Believe the Guy Who Claims He’s Descended From Vikings,” quotes evolutionary geneticist Mark Thomas, as saying “these tests have so little rigor that they are better thought of as genetic astrology.”  That may be right about some tests. But the key word is “some.”

Not all DNA ancestry tests or companies are created equal.  It is as much an oversimplification to suggest they are as it would be to claim that all lab tests are the same or all pharmaceutical drugs are the same. Do you get a shot for epilepsy when you have diabetes? Hardly. There are DNA tests and there are DNA tests. Customers are generally careful to get  the right medicine from a reputable doctor. A customer needs to be just as careful choosing a DNA test and a DNA ancestry company. Not all DNA ancestry companies, even some of the larger companies, have an ISO certified lab, for instance. This not only guarantees the reliability of results, it is also the highest standard in the genomics industry. A few have this laboratory benchmark, but it is, unfortunately, not required, in direct- to-the-consumer DNA testing. Would you want to entrust your genetic identity with anything less? The buyer needs to be aware that with non-certified labs there is a stronger possibility of contamination or lost or swapped samples. I know someone who was the unknown victim of a sample swapped. He thought he was someone else for two years.

Secondly, there are a variety of tests to choose from. There are sex-linked tests (Y chromosome, X chromosome- mitochondrial) and non-sex linked tests called autosomal. The sex-linked tests are haplotype tests based on genetic markers handed down by the male (Y chromosome, received only by other males) or female (mitochondrial). The industry started out with sex-linked testing, but its limitations dictated a move increasingly to autosomal or non-sex linked testing. There are weaknesses with sex-linked tests.

The mitochondrial genome is small compared with the nuclear genome according to the article “Mitochondrial Genome Analysis with Haplotyping” which means there cannot be that much variation with mitochondrial DNA analysis. For instance, some have expressed doubts that the recently found Leicester skeleton could be Richard III because of the mitochondrial DNA analysis that was done. Live Science writer, Stephanie Pappas, quoted Maria Avila, a computational biologist at the Center for GeoGenetics at the [British] Natural History Museum as saying “people could share mitochondrial DNA even if they don’t share a family tree” (Pappas).  

How is this possible? Mitochondrial DNA is ancient DNA and mutates slowly.  In the article, “Doubts Remain that the Leicester Body is Richard III,” a Mark Thomas at University College London is quoted as saying that “people can have matching mitochondrial DNA by chance and not be related.” So, it might not be Richard III after all. Male line haplotype testing has different limitations. “The Male Y- linked tests have very rapid mutation rates and are very fragile, so you can get a lot of errors with that type of testing,” according to Dr. Donald N.Yates, head of Research and Development for DNA Spectrum.

According to a recent New Scientist article by Colin Baras, “The Father of All Men Is 340,000 Years Old,” the Y chromosome seems more ancient than previously thought. If so, it is also less stable than we thought. Brian Sykes, Professor of Genetics at Oxford University and the author of The Seven Daughters of Eve, makes a strong argument that the Y chromosome is weakening and in trouble in his book, Adam’s Curse. He says it is “doomed to a slow and humiliating decline” (279) because of its instability and rapid genetic mutation and is thus headed toward extinction. Before the 1990’s paternity testing was based on Y chromosome comparisons and limited to fathers and sons. Sometimes, an uncle would be mistaken as the father. Today, it relies on autosomal DNA comparisons, can be applied to females, and is 99.99% accurate.

But then there are non-sex-linked Autosomal DNA tests which are based on a different science altogether. Anyone can take this traditional type of Autosomal DNA test because it does not rely on X or Y chromosomes (women are unable to take the Male Y- linked test and must entice a male in her line, if one is available, to take this test). This test is not testing ancient DNA but  goes back only some four or five generations, so it does not have these limitations. And it provides a complete analysis of all ancestral lines. Not just one line at a time as in haplotype testing. This is next generation ancestry DNA testing and the wave of the future. Moreover, this type of testing is more stable and has more scientific validity as it uses the same science that is used in the legal court system, by the government, and on CSI comparing loci markers to population databases. And two research teams independently reached the same groundbreaking results that the DNA mutation rate is slower than previously thought:  James X Sun et al., in the article, "A Direct Characterization of Human Mutation Based on Microsatellites," in Nature Genetics 44/10 (October 2012):1161-65, and A. Kong et al., in the article "Rate of de novoMutations and the importance of Father's Age to Disease Risk," in Nature 488 (2012):471-75. All done by the magic of math and laws of large numbers.

What does this mean concerning autosomal DNA ancestry tests? They have even more scientific validity. This second-generation type of DNA ancestry testing is based on these same genetic markers, and that is confirmation that the alleles on your DNA that are examined using a statistical basis have been relatively unchanged for the past 20,000 years. That’s about twice the length of what we call world history, hence a meaningful enough time frame for valid inferences about population patterns and ancestry of individuals. These are markers that everyone has (and why anyone can take an autosomal ancestry test).  These genetic markers change at a much slower rate than the Y chromosome which seems to be highly changeable, depending on the father’s age (Kong 201). (The Y chromosome is a marker only males have. It is used for other types of tests: male, haplotype, sex-linked DNA tests. Only males can take these tests, and it only provides information about that one male line).

Of course, anything can be over-interpreted. DNA testing is not magic. Maybe you should put that crystal ball up after all.

Behind the Numbers:  Jim Bentley

Jim Bentley, DNA Frontiersman

(Part Three of a Series)

We interviewed  one of Chromosomal Labs Bode Technology’s senior staff members, Director of Sales and Marketing Jim Bentley, to get his perspective on industry changes over the past thirty-five-plus years.

Jim Bentley.

When did you first get interested in DNA?

JB: I’ll have to preface my answer with a few remarks on “the early days.” When I graduated from Arizona State University in the 1970s, DNA testing as we know it, was not really a field that was in existence. There was not a lot going on. The little work I did with chromosomes was using electron microscopy. I worked in the biochemistry department, however and performed hundreds of assays using poly-acrylamide gel electrophoresis, mainly for separation of proteins. This technique, although improved and streamlined remains in use today for DNA-STR separation. The field we’re in today where we can determine a person’s profile and compare it with others for forensics  for relationships, ancestry, missing persons, adoptions and the like, that technology hadn’t been developed yet. It wasn’t quite as easy as it is today.

Tell us more about the evolution of DNA testing.

JB: It basically began with blood groups and types. The first paternity test was done in a court case with Charlie Chaplin in the 1940s. He was excluded as the father, but the court said he could go ahead and pay child support anyway—probably, because he could afford it. Since that time, scientists started moving past groups and types into some other techniques. Human Leukocyte Testing (HLA), DQ-Alpha, and Restriction Enzyme STR testing (RFLP) are examples of the evolution of DNA testing.

The big breakthrough came when Dr. Alec Jeffreys at the University of Leicester discovered STR testing in England the late 1980s. He used STR profiling on the Colin Pitchfork case. Colin Pitchfork became the first criminal convicted on the basis of DNA evidence and as a result of a mass DNA screening operation. He was charged with raping and murdering two teenage girls. Since that time the forensic community has really refined the techniques to perform STR testing. They’ve made it simpler and more accurate. It’s really moved exponentially in the last twenty years. Today competent biologists and chemists can produce excellent results, every time.  Dr. Jeffreys has been knighted for his contributions.

So what got you involved?

JB:  I came out of college as a chemist, one interested in the medical field. I started out working in clinical chemistry and toxicology. The work we did with DNA was extremely limited and very costly. But I did stick with a career in clinical chemistry. Within four years after graduating from school I was managing a clinical laboratory in Houston, Texas called National Health Laboratories. It was a laboratory of about one hundred scientists and support staff. After mergers, acquisitions and such, that company remains as Lab Corp. (It performs more than 1 million tests on more than 370,000 specimens each day.)

What opportunities for professional growth did you have over the years?

JB: Through taking a lot of continuing education coursework, I became proficient and qualified as a general supervisor in clinical chemistry, toxicology, hematology, parasitology, microbiology, serology—everything except for tissue work like histology and cytology, which was done by certified medical experts in those specialties. My interests kept me in touch with the staff pathologists, however, as well as all the rest of the laboratory. Though my present-day field did not exist at the time I graduated, by staying current I was able to benefit from the changes and be part of an emerging valuable service provided not only to the medical community but also to the forensic one, and the general population at large.

What are some famous cases you’ve been involved with . . . that you can talk about?

JB:  Actually, that’s my problem. We’ve been involved in a number of high-profile cases, but we’re not allowed to talk about any of them. Most have been on the forensic side, serial killer trials in Arizona, also in California, some that made the news in Florida . . Texas . . .Georgia.

Were you involved in catching the Grim Sleeper?

JB:  Actually, that’s an ongoing case in Los Angeles we are familiar with, but we didn’t do the work on it, so we can talk about that one. The importance of the Grim Sleeper case has to do with familial testing and autosomal DNA. It was termed the Grim Sleeper case because there were a number of homicides that took place beginning in the mid-1980s, all with the same basic MO [modus operandi], and then the murderer went underground for fourteen years. The victims were typically prostitutes shot with a firearm. In 2010, a suspect, Lonnie David Franklin Jr., 57, was arrested and charged with multiple counts of murder. He has not yet been convicted, nor the evidence against him tested in court.

How was DNA used to catch him?

JB: So here were a number of cold cases, but they were being tracked, and the law enforcement authorities in Los Angeles continued to monitor progress. The sole survivor of one of the Grim Sleeper’s attacks furnished a description of him as a black man in his 30s, along with other details. According to her story in the press, he lured her into an orange Ford Pinto, shot her in the chest with a pistol, took Polaroid’s and raped her, leaving her for dead. In 2008, the body count was thirteen, and a $500,000 reward was put out for “America’s Most Wanted.”

It became the first use in California, and one of the first three cases in the United States, of the use of familial DNA searching, that is, using the FBI’s CODIS database to match one family member’s profile with a suspect’s profile. The LA police were able to provide a close partial match to  Franklin’s crime scene profile with that of his son, whose CODIS markers were on file for a minor crime. They then set up a kind of mini-sting operation at a pizza parlor in Buena Park, where they knew the family liked to eat. Undercover detectives masqueraded as waiters and busboys. When the family left, they whisked away an unfinished pizza slice. The crust yielded DNA which police linked on a more solid basis to Lonnie Franklin. It was the first high-profile case in which a family member’s DNA had been used to catch a criminal. The ACLU and others had been critical of familial searching on grounds of privacy, and there is still a lot of debate over familiar searching because it might open up the search and include those who hadn’t committed any crime.

Did this help produce new commercial products like the “cousin finders”?

Only a few states are doing familial searching, and they are pretty guarded about it. It’s hard for me to make a connection. Certainly, these developments have been concentrated in the past three or four years, but the use of this technique is spreading.

Are people legitimately suspicious about DNA databases?

JB: Fears surface from time to time. There have been claims that keep popping up that someone’s going to take everything that’s in the database and use it to determine genetic deficiencies that could lead to medical issues down the road. Once it was speculated that if such  information was released, insurance companies would begin denying people coverage based on their profiles.

This is the mother of conspiracy theories, isn’t it?

JB:  It really is. For the most part—not for everyone—the vast majority of the markers we are using are in the “junk DNA” area. That is, they don’t by themselves “do” anything or give you genetic information on the face of things. There may be one or two markers that possibly could be construed as yielding some medical information—such as a trisomy at vWA or TPOX [a CODIS locus]. But by and large, you are not going to be able to do any medical diagnostics with the markers we run. Usually trisomies such as Down’s syndrome would be physically expressed and not hidden. It’s a little different with SNP panels [single nucleotide polymorphisms] such as those run by 23&me. With a high number of those, it’s entirely possible to predict medical predisposition. That’s what they base their business on.

Let’s talk some more about the CODIS database.

JB:  It’s important to realize that even law enforcement doesn’t provide much access to the CODIS [Combined DNA Identification System] databank. That’s something I have to give the FBI credit for. They have developed a system that is secure. It’s the DNA administrator at each facility who has undergone FBI training and uploads the data under very strict rules, and they are notified of any “hits” that involve them, but otherwise there is very little access, and the use of the database is very even across the country. There are not a large number of portals that can be used to access the CODIS database. There are several hundred law enforcement laboratories that are running profiles across the country, and the database is best thought about on three different levels:  LDIS, SDIS and NDIS, local, state and national versions. Between our labs in Phoenix and Virginia, we’ve tested over a million profiles for entry into CODIS. That’s about one-tenth of the entire number. I can tell you there is tight security. Hundreds of thousands of investigations have been aided by a DNA hit (we don’t like to say “match” so much, because statistically nothing is 100%) generating a lead.

How did you get bitten by the genealogy bug?

JB: I’ve always been fascinated with ancestry. I think it came about because my father took an interest in discovering our family’s roots and had to do so at the time by traveling to Salt Lake City, Utah, and poring over whatever records he could find there about our fathers, and great-grandfathers, and great-great-grandfathers, and so forth. He had tintypes of some of the relatives. We had various pieces of the puzzle. My father pretty much consolidated everything back to William Bentley, who settled in Rhode Island in the early 1700s and had come from Bedfordshire, England. He put together a book for family use. He glorified a few of them and left a few out that weren’t ready for glorification. For the sensitivity of some of the relatives, he left a few details out, but it was a pretty solid piece of work. For me, it kind of fostered this interest in ancestry and its importance. Certainly, when I started at Chromosomal Labs • Bode Technology, we started looking at the various tools that could be used. Our history, to be sure, is passed down from generation to generation. Initially, we were using mitochondrial DNA, Y-SNP’s and Y-STRs and then autosomal STRs to determine how we’re connected to general and specific individuals back to the Revolutionary War days and how you are linked with the world population, what your roots were. I have a particular Y haplogroup of G2a, which is not one of the more common ones.

Hmm . . . you and Joseph Stalin.

JB:  [Laughs]. Is that what his haplogroup was? Uh-oh! He was one of the worst. Well, I got interested in G2a and hooked up with about 50 other Bentleys and we identified our founder  patriarch haplotype. I get emails from them on a regular basis. The other thing we tried to find out was what in the world were all these G2a’s doing in England. I don’t know. But one of the things I find in the literature most often was that the Sarmatians were horsemen that gave the Romans a pretty rough time. Eventually, they were decimated. The Romans took their remaining cavalry and pressed them into service for 12 to 13 years or longer. Some were dispatched to Hadrian’s Wall. Now do I know for a hundred percent certainty that’s where I came from? No, but its fun to regard that as a hypothetical personal history.

You have a Scythian gene, don’t you?

JB:  Yes, I do according to the analysis DNA Consultants did for my autosomal ancestry. The work Dr. Yates has done on the rare alleles supports a lot of the stuff the family has been putting together for years and years.  I was very pleased to get my Rare Genes from History report back showing I had the Scythian gene. That seems to go along with the Sarmatian theory about the Bentleys.

How do you see the industry changing over the next few years?

JB:  I can speak best about changes I am seeing in the field. They’re getting closer to having rapid DNA testing on a chip. This gives flexibility to those who want to use DNA as “point of use” testing. The FBI this past year came out at the Promega conference and said that within the next two years they would like to see wide adoption of “point of use” testing. The IntegenX prototype allows you to put your swab into a cartridge, insert it into the instrument on the fly and get your STR results in a few hours. Previously, Rapid DNA testing was not only time-consuming and lab-bound but it was very expensive. It cost several hundred dollars in reagents alone. As the technology improves to allow 2 hour testing in our lab or on a chip, reagent and personnel time continue to drop,  Now, the FBI would like to see point of use testing in every booking station in the country. At the last show, I also saw an instrument from Illumina that would run Y-STRs, mtDNA and autosomal DNA profiles simultaneously on one sample. Another change that is coming is we will see an expanded profile becoming the standard, perhaps something similar to the GlobalFiler kit from Life Technologies with its 24 loci. With the new technology you can increase the speed for amplifying the specimen by five times and achieve nine times the discriminating power or resolution.

Any final remarks?

JB: The DNA testing field is on the threshold of even greater accolades of appreciation both from the scientific community and the public. If DNA wasn’t even in anyone’s mind twenty years ago, soon it will be part of everyone’s daily lives.

 
























Sir Alec Jeffreys, inventor of DNA fingerprinting, and Jim Bentley at forensics meeting.

Behind the Numbers:  Elizabeth Hirschman

  (Part Two of a Series)

We interviewed Rutgers marketing professor Elizabeth Caldwell Hirschman, author of several books and articles incorporating DNA in her research, to hear her personal story in our continuing series about the people behind the scenes in the field of DNA testing.

Elizabeth Hirschman with MBA students at Rutgers in December 2009.

When did you first get interested in DNA?

ECH: I got interested in DNA testing around 2000 when I discovered I was Melungeon after reading Brent Kennedy's 1994 book. Brent suggested several different ancestries that possibly contributed to the Melungeon population and I wanted to find out which of these were correct and which ones I had. I already suspected Jewish ancestry because of the naming patterns in my family over the past 300 years, as well as some of their habits --e.g., not eating pork, getting married in a home instead of a church, cleaning house on Friday afternoon, no eggs with blood spots, washing all meat, etc. We also had some genetic anomalies -- shovel teeth (sinodonty), palatal tori and large rear cranial extensions, as well as polydactylism.

Tell us more.

ECH:  Over the course of the past decade I have been found to have Native American, Spanish, Ashkenazi Jewish, African, Mediterranean and Gypsy/Northwestern India ancestry. My Dad turned out to have substantial Gypsy and African ancestry. He and I share a large cranial rear extension that I believe likely comes from the African ancestry -- the photos I have seen of the !Kung Bushmen look just like our head shapes. My Mom has Native American and/or Sino-Siberian ancestry. She also possessed the Asian teeth and palatal tori found in this group.

You've written several books and articles with Donald Yates; how did that come about?

ECH:  We shared ancestry from the Coopers, a prominent pioneer family in Daniel Boone’s time. In 2000, I wrote him out of the blue when he was a professor in Georgia and introduced myself and asked if possibly the Coopers were Jewish. We began to correspond by email. I told him I was sure one of the reasons I was working so hard to figure out the Melungeon story was because I had to figure out who I am. “Up until last year,”  I remember telling him, “I thought I was Scotch-Irish, English , white and Presbyterian.” It was a big transition to Sephardic, brown and Jewish. It turned out that we were distant cousins and had numerous links in our Melungeon ancestry.

What was a typical publication?

ECH: One article was called “Suddenly Melungeon! Reconstructing Consumer Identity Across the Color Line.” This was published by Routledge in 2007 in a handbook on consumer culture theory edited by Russell Belk.  

How did the Jewish findings play out?

ECH:  On a personal level, both Don and I, as well as his wife Teresa, returned to Judaism, he and Teresa in Savannah and I in New Jersey. On a professional level, we started the Melungeon Surname DNA Project, which focused on Scottish clan and Melungeon surnames (i.e., male or Y chromosome lines), and later included Native American mitochondrial DNA.  Initially, many people in the genetic genealogy community were frustrated that the incoming Jewish DNA results were not originating in the Middle East, as they had strongly believed and hoped, but were showing a lot of Khazar, Central Asian, Eastern European and Western European/Spanish/French input.

Can you elaborate?

ECH:  Critics were not happy that DNA was proving a wider and more inclusive picture of the Jewish people. Where Don and I have performed a service, I believe, is by just following the DNA trail and accepting new findings (e.g., the Gypsy/Roma) when they come in, instead of clinging to an a priori theory/belief/wish, for instance, the claim of a Middle Eastern origin for the majority of Jews.

What tests have you ordered from DNA Consultants?

ECH: I ordered every test as they became available over the years, first the Y chromosome and mitochondrial or male-line and female-line tests and later the autosomal or DNA fingerprint tests that analyze your total ancestry.  I helped organize the first autosomal Melungeon study by contributing samples from my mother and brother and obtaining samples from well-known Melungeons like Brent Kennedy and his brother Richard. Increasingly, our testing took on the aspect of a family group study. For instance, I was able by comparing multiple results from relatives to reconstruct my father’s ancestry quite satisfactorily, even though he died many years ago. I took the Rare Genes from History for all available family members. There is a streak of the Thuya Gene and First Peoples Gene in all of us, as well as the Sinti Gene (which is Gypsy), while my brother Dick got our father’s Khoisan Gene, which is African. Incidentally, it has the same source as the !Kung people and head shape I mentioned before.

If you had H. G. Wells' time machine where would you go?

ECH: I would love to be able to visit my ancestors and see what they looked like, where they lived, how they lived and learn how they got to Appalachia from such disparate parts of the world. I wish I could talk with them. My project now is to visit all the places they are known to have come from and see what the architecture, climate, food, and people are like. That is about as close to "meeting" them as I will be able to get. So far, I’ve traveled to Scotland, Ireland, Wales, England, Spain, Tunisia and Morocco on the trail of my Sephardic Jewish ancestors. I am trying to get to the Silk Road to see Central Asia, Turkey and Northwest India in the near future.

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Phyllis Starnes:  Designer Genes

We interviewed Phyllis E. Starnes, assistant investigator, to find out what fascinates her about the field of DNA testing. Her story is the first in a series titled "Behind the Numbers" about the workers behind the scenes in our industry, from lab technicians to statisticians.

Interviewer:  How did you first get interested in DNA?

PES:  I went to the Melungeon Union in Kingsport [Tennessee, in 2002]. Beth Hirschman had her “stalk,” a diagram of her Melungeon family tree with all the names in her genealogy, many of which were also my surnames. I heard Dr. Yates speak at that meeting. They had their lines all pinpointed, thanks to DNA studies.

Interviewer:  What was your next step after that?

PES:  I came home and did a lot of genealogy research on the computer.

Interviewer: And then?

PES:  The first year DNA Consultants opened for business, which was 10 years ago, I ordered a Y chromosome test for my husband Billy. Other companies were offering the same product, but DNA Consultants was the only one to give you a full analysis and customized explanation of things. Then I ordered my own mitochondrial DNA test.

Interviewer:  Any surprises?

PES:  Billy’s top matches for his male line, the Starnes surname line, were Macedonia and Albania. My mitochondrial mutations matched Native Americans. I became the first of the “Anomalous Cherokees” whose female lineages didn’t fit in the traditional scheme of “Indians out of Asia.” In fact, my Hypervariable Region 2 mutations matched only one other sample in the world, and that was Dr. Yates, who is Cherokee in his direct female line.

Interviewer:  What did your husband and the rest of your family think?

PES:  Some were excited, as I was, but most were just not interested. My kids thought the strong Native American matches were very interesting.

Interviewer:  What other family members did you test?

PES:  As soon as autosomal testing arrived, with the DNA Fingerprint Test, I did Billy and myself, of course, Julia, Kiely and Holli (our three daughters), our granddaughter Keely, my Dad’s sister and Mother’s sister, an uncle and his wife, a niece and a cousin.

Interviewer:  What did you find out?

PES:  Within the immediate family, it was obvious who got which ancestry and trait from whom, and how they all resonated. One of the big surprises was my father’s side, which proved to have quite a bit of Native American and Iberian. The “First Peoples” gene came from his side and passed on down through our girls. On my mother’s side, 11 out of 20 matches was India.

Interviewer:   India!?

PES:  Yes, it appears we were finally seeing the extensive Romani/Gypsy heritage in her family. People had always told me I was like a Gypsy, from my clothes and jewelry to my attitude and outlook. When Billy was in the Navy, I told him one day, ‘I’m tired of being a Gypsy.’ I said I wanted to settle down in one place.

Interviewer:  Did you settle down?

PES:  Yes, we’ve lived in a small town in East Tennessee for almost 40 years. We moved here in 1973.

Interviewer:  Any other surprises in your DNA?

PES:  If you were to chart our geographical matches, both in terms of autosomal DNA as well as the female and male lines, it would surround the Mediterranean. That’s where Familial Mediterranean Fever comes in.

Interviewer:  Who has FMF in your family?

PES:  Billy, myself, Julia, Holli and a cousin. I’m sure others have it but it has not been diagnosed and they may call it instead fibromyalgia. Brent Kennedy [author of a book on Melungeons and their genetics] is a cousin many times over.

Interviewer:  What do you enjoy about your job?

PES:  It’s like a holiday every day. With customers coming out of North Carolina or East Tennessee, I see a lot of the same matches and genealogy I have personally encountered in my own experience with DNA testing. I recognize a lot of genetic cousins.

Interviewer:  When did you first hear the word “Melungeon”?

PES:  I grew up in Southwest Virginia in the little town where the Stony Creek Church is located. The church minutes contain the first written instance of the word. The register is all of mine and Billy’s ancestors, and part of Beth’s [Elizabeth Hirschman, author of books on Melungeons].

Interviewer:  What do you see in the future of DNA testing?

PES:  I think we’ve only glimpsed the tip of the iceberg so far, even though it’s been 10 years. We’ll continue to have new knowledge, new products. I highly recommend our customized approach.

Interviewer:  Any parting shots?

PES:  I’ve worked in sales all my life—jewelry management and design, my own interior decorating shop, running my own hair salon—but I have found something to be truly excited about in DNA. Funny I couldn’t get this excited about selling diamonds! If you think about it, your genes are the ultimate design for living.



Donald Yates and Elizabeth Hirschman speaking at Fourth Melungeon Union, Kingsport, Tenn., in June 2002. Hirschman, a professor at Rutgers University, went on to publish Melungeons: The Last Lost Tribe in America. Yates, a professor at Georgia Southern University at the time, founded a service for evaluating DNA reports that became DNA Consultants. The two authors have collaborated on a number of books and articles, including Jews and Muslims in British Colonial America. 

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Authentic sequences from the ancient human past are a rarity in the world of DNA testing. But when a team of archeologists put the mummies of King Tut and his immediate family on the operating table in 2010, they were successful in deriving almost complete DNA profiles for the boy king and others in the Amarna dynasty that ruled Egypt more than three thousand years ago. Now three of the DNA signatures of Egyptian pharoahs from that famous forensic study by Zahi Hawass and the Supreme Council of Antiquities in Cairo--plus others newly discovered--are available as part of a commercial direct-to-the-consumer autosomal DNA testing panel.

In October 2012, DNA Consultants launched its Rare Genes from History Report. Based on a customer's DNA fingerprint or autosomal profile, the additional analysis sells for $289. It compares your laboratory results with 26 rare alleles or ancestry markers whose trail has been traced through world history and evolving population changes by the company's statisticians. 

Take the Thuya Gene, for instance. Like most of the other Rare Genes from History, it has an African origin in deep time. But it experienced its greatest expansion in ancient Egypt, where it was carried by the queens of Upper and Lower Egypt and High Priestesses of the temples. It was reported in the profile of Queen Thuya's mummy, and we can see that she passed it to her children, grandchildren and descendants. King Tut was a great-grandson and has it, according to the new forensic evidence.

Today, as many as one-fourth of all people on earth would test positive for the Thuya Gene. It is twice as common in Somalia as outside Africa and is found in 40% of Muslim Egyptians.

That's not so rare after all, but unsurprising. Egyptian civilization lasted for three thousand years and sowed the seed of its peoples and ideas throughout the world. We can imagine that Autosomal Thuya started out in East Africa about 100,000 years ago, and that her descendants were prominent in the first out-of-Africa group as well as in the Middle Easterners who helped spread agriculture, animal husbandry, religion and settled town life to Europe. 

The spirit of Thuya lives on in 27% of Jews who have been tested in academic studies. Extrapolating to world population figures, that's nearly 400,000 people, about evenly divided between the United States and Israel.

See also "Prelaunch of New Autosomal Products" (August 26, 2012)
"Rare Genes from History" (webpage)
"Rare Genes from History Panel Now Available for $289.00"

The classic DNA study by the Supreme Council of Antiquities in Cairo, Egypt is: Hawass Z, Gad YZ, Ismail S, et al. Ancestry and Pathology in King Tutankhamun's Family. JAMA. 2010;303(7):638-647. The feat by scientists has also been featured on Discovery Channel. 

PRESS RELEASE
Rare Genes from History:  DNA Consultants’ Next-Generation Ancestry Markers

PHOENIX -- (Oct. 1, 2012) -- DNA typing has gone from successes in the criminal justice system and paternity testing to new heights in mapping genetic diseases and tracing human history. John Butler in the conclusion to his textbook Fundamentals of Forensic DNA Typing raised an important question about these trends. How might genetic genealogy information intersect with forensic DNA testing in the future?

"At DNA Consultants, that new chapter in DNA testing arrived several years ago," said Donald Yates, chief research officer and founder. "As we approach our tenth anniversary, examining human population diversity continues to be the whole thrust of our research, and it just gets more and more exciting."

The company's DNA database atDNA 4.0 captures and puts to use every single published academic study on forensic STR markers, the standard CoDIS markers used in DNA profiles for paternity and personal identification. In 2009, the company introduced the first broad-scale ethnicity markers and created the DNA Fingerprint Plus.

But its innovations didn’t stop there. In October 2012, the company announced the launch of its Rare Genes from History Panel.

Why CoDIS Markers?

“Theoretically,” noted Butler in 2009, “all of the alleles (variations) that exist today for a particular STR locus have resulted from only a few ‘founder’ individuals by slowly changing over tens of thousands of years.”

How true! Hospital studies have determined that the most stable loci (marker addresses on your chromosomes) have values that mutate at a rate of only 0.01%. That means the chance of the value at that location changing from parent to progeny is once every 10,000 generations.

So the autosomal clock of human history ticks at an even slower quantum rate than mitochondrial DNA. Like “mitochondrial Eve,” its patterns were set down in Africa over 100,000 years ago when anatomically modern humans first appeared on the stage of time.

Though the face value of the cards in the deck of human diversity never changed—and all alleles can be traced back to an African origin—as humans left Africa and eventually spread throughout the world, alleles were shuffled and reshuffled. Humanity went through bottlenecks and expansions that emphasized certain alleles over others. Genetic pooling, drift and selection of mates produced regional and country-specific contours much like a geographic map. 

By the twentieth century, when scientists began to assemble the first genetic snapshots of people, it was found that nearly all populations were mixed, some more than others. The geneticist Luigi-Luca Cavalli-Sforza at Stanford University proved that there is almost always more diversity within a population than between populations.

So if there is no such thing as a “pure” population—a control or standard—how are we to make sense of any single individual’s ancestral lines? Statistical analysis provides the answer. And rare genes are easier to trace in the genetic record than common ones. Their distinctive signature stands out.

Back Story:  It All Began with the Melungeons

About the same time as DNA Consultants' scientists were cracking the mystery of the Melungeons, a tri-racial isolate in the Appalachians, they became aware of certain very rare alleles carried by this unusual population in relatively large doses. The Starnes family, for instance, in Harriman, Tennessee, was observed to have a certain rare score repeated on one location in the profiles of members through three generations. The staff dubbed it “the Starnes gene.”

Soon, company research had characterized 26 rare autosomal ancestry markers—tiny, distinctive threads of inheritance that reflected an origin in Africa and expansion and travels through world history. Genes in this new generation of discoveries were named after some distinctive feature associated with the pattern they created in human genetic history--for instance, the Kilimanjaro Gene after its source in Central East Africa. The Thuya, Akhenaten and King Tut genes were named for the royal family of Egypt whose mummies were investigated by Zahi Hawass’ team in 2010.

The Starnes Gene” became the Helen Gene. Because of its apparent center in Troy in ancient Asia Minor and predilection for settling in island populations, it was named for "the face that launched a thousand ships," in the famous phrase by Christopher Marlowe.  

All 26 of DNA Consultants' new markers are rare. Not everyone is going to have one. But that’s what makes them interesting, according to Dr. Yates.

Coming from all sections of human diversity—African, Indian, Asian and Native American—they are like tiny gold filaments in a huge, outspread multi-colored tapestry, explains Phyllis Starnes, assistant principal investigator and wife of the namesake of the first discovery. But does that mean that her husband has a connection to Helen of Troy? The markers don’t work on such a literal level, but it does imply that Billy Starnes shares a part of his ancestral heritage with an ancient Greek/Turkish population prominent on the page of history.

Over the past two decades, geneticists have worked out the macro-history and chronology of human migrations in amazing detail and agreement. The Rare Genes from History Panel is another reminder--in the words of an American Indian ceremonial greeting--that “We Are All Related.”

These rare but robust signals of deep history can act as powerful ancestral probes into the tangled past of the human race as well as unique touchstones for the surprising stories of individuals.

For more information about the science of autosomal DNA ancestry testing, visit DNA Consultants or check out its Twitter or Facebook page. 

Genetics has transformed many of our notions of race, ethnicity and identity. How do you identify your ancestry when checking off ethnic options on an official form? How do you identify yourself informally with friends and family? Have you ever "changed" your ethnic self-identification because of a DNA test? These and related questions were the topics discussed at a 90-minute colloquium at the 12th Annual International Diversity Conference held on the campus of the University of British Columbia in Vancouver, Canada, June 12. 

Photo:  Solomon Bibo is America's only recognized Jewish Indian Chief. 

The title of the public discussion was "Perspectives on Ethnic Identity:  Epigenetics, Marketing, DNA and Genealogy." It was organized by Donald Yates and moderated by Gregory Baskin. Presenters included:

Dr. Anne Marie Fine, Scottsdale, Ariz. naturopathic physician, who spoke on the emerging field of epigenetics, the multi-generational factors that "turn on and turn off" your genes.

Elizabeth Hirschman, Rutgers University, who addressed the history of anti-discrimination law in the United States, from 1790 to the present.

Wendy Roth, University of British Columbia, author of the just-published book Race Migrations: Latinos and the Cultural Transformation of Race, who presented the results of ongoing surveys of consumers of DNA testing, with an emphasis on changing notions of ethnic identification.

Donald Yates, who presented a paper on overlapping ethnic identity in Bernard Malamud's The People, George Tabori's "Weisman and Copperface:  A Jewish Western" and three early twentieth-century poets writing in Modern Hebrew, Benjamin Nahun Silkiner, Israel Efros and Ephraim E. Lisitzky. Yates' paper was titled "Dying Campfires: Jews, Indians and Descendant Organizations" and included a comparison of Marranos (Sephardic crypto-Jews) with so-called Wannabe Indians (descendants of Indians who want to join a Federally recognized tribe but are barred from applying for membership for various reasons).

Both categories of ethnic belonging, Yates showed, are often rejected by official authorities like rabbinical courts and the Bureau of Indian Affairs because adherents are seen to be only selectively practicing the group's customs and traditions. 

Of the Marranos, for instance, Benzion Netanyahu wrote, "The Marranos ought to be treated realistically according to what they actually were -- not unwilling, but willing converts, and consequently traitors to the Jewish religion and enemies of the Jewish people." In other words, Conversos chose to practice some Jewish, some Christian customs, or to hide their true beliefs with an insincere profession of Christianity. 

In the same way, Cherokee and other Indian descendant organizations were criticized by William Quinn in an article that served as a sort of legal brief on the subject of Wannabe Indians published in 1989 in American Indian Quarterly. "Wannabe Indians are scorned by 'real' Indians because they pick and choose what customs they will adopt, because they have a 'distorted notion of the way in which Indians live and behave,'" Yates concluded. 

Read Yates' paper. 

Ruling Applies to All Their Ancestors and Descendants

Majorcan Jews belong to the Sephardic (Spanish) division of world Jews. The name of the island is Majorca in Spanish, Mallorca in Catalan (in whose orbit historically it fell). In 2011, a Rabbinical court recognized the Majorcan Chuetas and all their genealogically related families as Jews. It is possible that the Franciscan Majorcan Junipero Serra who founded California's Spanish mission system was Jewish (Converso), as was probably the family of Christopher Columbus.

DNA Consultants is fortunate to have population data on Majorcan Jews. Here is a description, along with some links on Majorca's history and people. The Majorcan – Chueta (also spelled Mallorcan and Xueta, respectively) population data represent DNA samples from 102 unrelated Chuetan (Jewish) individuals on Majorca (http://en.wikipedia.org/wiki/Majorca) -- one of the Balearic Islands (http://en.wikipedia.org/wiki/Balearic_Islands) in the Mediterranean Sea, which mark the easternmost part of the Kingdom of Spain, the nation’s official title (http://www.state.gov/r/pa/ei/bgn/2878.htm and http://en.wikipedia.org/wiki/Spain). Samples were obtained by the Genetics Laboratory of the Biology Dept. at the University of the Balearic Islands.

For more details on the Chuetas, also called Majorcan Jews, see http://www.majorca.com/v/history/; http://en.wikipedia.org/wiki/Chueta;
http://www.espana-spain.com/sephardic-route-palma-de-majorca.html http://www.myetymology.com/encyclopedia/Chueta.html; http://www.jewishideas.org/min-hamuvhar/welcoming-chueta-back-his-jewishness; http://www.skyscrapercity.com/showthread.php?t=234668 http://www.northsouthguides.com/history_of_mallorca.html
http://www.northsouthguides.com/mallorca_history.html

Source publication:  Genetic Variability at Nine STR Loci in the Chueta (Majorcan Jews) and the Balearic Populations Investigated by a Single Multiplex Reaction, IJLM, 2000, p263-267.

Dienekes' Anthropology Blog is the grand ole man of genetic blogs, well-praised in all quarters with archives going back to 2004. It is run by Dienekes Pontikos (blogger pseudonym), a Pontos Greek whose family is from Turkey, and who describes himself, far too modestly, as "an anthropology dilettante."

Dienekes keeps current on a large range of scientific papers appearing in human population genetics, physical anthropology, archeology and history. His judgments are sparing, but sound, and he encourages you to "reuse any of the materials of this blog for non-commercial purposes, as long as you attribute them to Dienekes Pontikos and provide a link to either the individual blog entry or to Dienekes' Anthropology Blog." If you are looking for elegant perfection, bookmark Dienekes and follow him on Twitter.

Abusive Posts
DNA Forums is "for posting and discussing news of a Historical/Genealogical/Genetic nature only." It has been online for several years and has 222 topics and 4602 replies. You must subscribe to read and participate. It is hard to tell who runs or moderates its threads. Announcements seem to come from George van der Merwede, who is listed as the owner in a WhoIs search.

There have been complaints about abusive posts on DNA Forums. Blogging, of course, can result in a range of legal liabilities and other unforeseen consequences, including defamation, malicious statements, libel and slander.

Several users have complained about trolling on these forums--making personal comments aimed at causing grief or stirring up hatred. According to the Internet definition, a troll is "someone who posts inflammatory, extraneous, or off-topic messages in an online community, such as an online discussion forum, chat room, or blog, with the primary intent of provoking readers into an emotional response or of otherwise disrupting normal on-topic discussion."

As long as you do not get involved in any nasty consequences of participating, you should take advantage of the instant world of DNA news and views. For the state of the science as well as unparalleled civility and informativeness, we recommend Dienekes.

Lorton, VA – February 13, 2012 – Bode Technology (Bode), a leading provider of forensic DNA services, announced today the acquisition of Chromosomal Laboratories, Inc., a leading provider of DNA testing for immigration and private paternity.

By adding this expertise to its portfolio of service offerings, Bode will utilize its vast international and domestic presence to provide best inclass immigration paternity and private paternity testing to clients worldwide. Bode is a whollyowned subsidiary of SolutionPoint International, Inc.

“Chromosomal Laboratories has established an excellent reputation through its focus on clientservice, fast turnaround and high quality,” said Barry Watson, CEO & President of Bode. “Their focus on immigration and paternity testing complements Bode’s strengths in forensic casework and databasing, and enables us to expand our domestic and international offerings. With the increased use of DNA for immigration purposes and recent changes in the marketplace, we see opportunities for significant growth.”

“Having admired and respected Bode Technology as a competitor in forensics for years, I am extremely excited and proud that Chromosomal has this opportunity to join their team,” said Vladimir Bolin, CEO and co-founder of Chromosomal Laboratories, Inc. “The ethics, vision,resources and leadership of the Bode team is beyond reproach, and sets a solid foundation for Chromosomal’s technical and market leadership in the coming years.”

Chromosomal Laboratories, founded in 2004, maintains AABB accreditation for relationship testing activities and ISO 17025 accreditation in forensics. It provides relationship and forensic services both in the United States and internationally. Operating out of its state-of-the-art facility in Phoenix, AZ, Chromosomal Laboratories has provided services for samples from every state in the United States and approximately one hundred countries.

DNA Analysis from Fingerprints

Fingerprints are routinely used in crime scene investigations to characterize individuals associated with forensic evidence. However, fingerprints are sometimes smeared or incomplete and cannot be interpreted or used for further analysis. The use of mtDNA for the identification of fingerprints would be valuable in forensic investigations. The research department at The Bode Technology Group has developed a method to obtain mtDNA from processed fingerprints on both non-porous and porous substrates.

The research department at The Bode Technology Group is currently developing methods to obtain STRs from processed latent fingerprints. Many of the same substrates and chemical processes used for mtDNA recovery will be tested for STRs. Updates on our research will be posted periodically on the company's website.