The next big breakthrough in your family history might be found not in microfilm but in microbiology. Here's how DNA is putting the gene in genealogy.
Sometimes, records and oral histories aren't enough. Every genealogist smacks into brick walls, feels the chill of a paper trail run cold, hears family tales of famous lineages but can't prove them. Many of us wonder about the cousins out there we haven't met yet, and may never get to. But these traditional roadblocks don't have to bring your research to a standstill anymore. There's a new frontier, brimming with new answers, that genealogists are just beginning to explore: genetic genealogy. By examining the stuff of our genes, scientists are able to tell whether one person shares an ancestor with another, about how long ago that common ancestor lived, and even his ancient ancestral homeland. DNA testing is bringing people of the same ancestry together from across the globe, showing us where our forebears migrated from, and eliminating dead ends by revealing whom we're not related to.
A few years ago, the Internet was the "next big thing" for family historians because it allowed them to connect with relatives like never before and to discover information they might not have otherwise found. But DNA testing is quickly taking over as the hot new tool for genealogists. "DNA is a record of who we are and how we're related to each other," says Scott Woodward, who heads the Center for Molecular Genealogy at Brigham Young University. "DNA can identify an individual, link him to a family and identify extended family groups (tribes or clans)." Its accuracy in determining family relationships is unparalleled, and DNA's potential to build a global genealogy database is mind-boggling.
Clarke Glennon of Merion Station, Pa., (email@example.com) realized this potential after coordinating a DNA study of 23 Glennon males in the United States and Ireland. He'd spent many years using traditional genealogical methods to research his family history, but hit a dead end with his great-great-grandparents in 1845 Glinsk, County Galway, Ireland — a common problem for Irish family historians. He'd heard about the idea of using the Y chromosome, the part of genes that's passed only from father to son, to show if men with the same surname are connected by the same ancestor. He had himself tested, then convinced other Glennons to contribute their DNA.
"Two of the Glennon men who took this test knew each other and worked for the same company in Boston," Glennon says. "They had compared their family histories and found that they were ‘not related,’ but called each other ‘cousin’ in jest. When their results came back, they discovered that they were a perfect match on 12 out of 12 (genetic] markers and were, in fact, real cousins."
HOW IT WORKS
Before you begin exploring what DNA can do for your genealogy, you need to understand the biological basics. There are three types of genetic data: Y chromosome, mitochondrial DNA and autosomal (or nuclear) DNA. Y chromosomes are found only in males and are inherited from the father. As they are passed from generation to generation, Y chromosomes remain much the same over many years. Ys make up only about half a percent of a man's DNA. Mitochondrial DNA (mtDNA) is found in both males and females, and is inherited from the mother. MtDNA changes even less from mutation as it is passed down through the generations. It makes up .0006 percent of your DNA. Autosomal DNA is what we inherit equally from mother and father, and makes up 99 percent of our genetic information.
For genealogical purposes, the autosomal DNA isn't worth much. It recombines so often and mixes genes up so much that it's nearly impossible to trace ancestry with it. At the other end of the spectrum, mtDNA isn't much more helpful, at least for genealogists. The mitochondrial DNA passed from mother to child changes too little over generations, explains Bennett Greenspan, president of Family Tree DNA, a company that tests DNA for genealogists. While mtDNA may reveal a common ancestor who lived many thousands of years ago, this information isn't recent enough to help fill out a family tree chart. Men's Y chromosomes, on the other hand, mutate relatively frequently, allowing tests to show more recent relationships.
Just because women don't have Y chromosomes, however, doesn't mean they can't benefit from this type of testing. "Women can recruit their brother, cousins or father to obtain information on their paternal Y-lined inheritance," says Terry Carmichael, vice president of marketing and sales for the Gene-Tree DNA Testing Center.
Several companies already offer DNA testing services specially designed for genealogists. Before you plunk down your $200-plus for a DNA test, though, examine your options. Testing methods, costs, results and reports differ, but the aim is the same — to help you discover the ancestral answers that lie in your genes. Check them out and see what's right for you:
• Ancestry GenetiKit: The online genealogy database giant Ancestry.com recently teamed up with a company called Relative Genetics to offer several types of DNA testing, combined with Ancestry's powerful online services. With the GenetiKit, you can order a paternal, maternal or Native American origin test. When you receive the kit, you rub cells off the inside of your cheeks with a cotton swab, fill out a short form and send the kit back to the lab. In a few weeks, you'll get an e-mail message directing you to a secure, personal Web site with your results. The GenetiKit site allows you to view and print your test results; see how your results match up with others in Relative Genetics' database of DNA samples; anonymously contact possible relatives with similar DNA signatures; and automatically search 186 million names in the Ancestry World Tree for newly discovered relatives. Your online results and search capabilities are available for one year. Each test costs $219 and takes several weeks to complete. To order or learn more about the GenetiKit, visit <www.ancestry.com/genetics>.
• Oxford Ancestors: Oxford University genetics professor Bryan Sykes started this DNA testing company after he discovered a powerful link between his own DNA and surname. In 2000, he traced his lineage back more than 600 years. Testing his Y chromosome and that of 250 other men with the surname Sykes, he discovered that almost all share one founding male — the original Mr. Sykes, who lived sometime in the 14th century, when surnames first came into use in England. Since then, Sykes has published a popular account of his genetic studies of maternal ancestry, The Seven Daughters of Eve: The Science That Reveals Our Genetic Ancestry (W.W. Norton, $15.95), and popularized the notion of learning more about our deeper ancestral roots and connections through DNA.
The Oxford lab will analyze your DNA for which "daughter of Eve" you come from, including where and when she lived ($220); the current geographic distribution of your surname (only in mainland Britain, $50); whether males with the same surname are related ($220); and whether you descend from Vikings ($235). These tests involve submitting a cheek swab sample and take two weeks upon receipt of your sample. For more information on these services, visit <www.oxfordancestors.com>.
• Family Tree DNA: Since 1999, Greenspan and his team of geneticists at the University of Arizona have been testing DNA for genealogists. The company offers a variety of tests, including paternal, maternal and Native American ancestry. Similar to the GenetiKit, you swab your inside cheek to collect a DNA sample (although Family Tree DNA includes two swabs — one as "backup"). Then you mail the samples back to the lab and wait several weeks to receive an e-mail with your user ID and password to access your results in the company's online database.
Males who want to test their Y chromosomes have the following options: 12 Marker Match ($219), which tests 12 markers on your genetic sequence; 21 Marker Match ($279), which narrows down your matches to more recent common ancestors; Y-DNA Refine ($80), an "upgrade" test of 21 markers for those who have already had the 12-marker test; Native American Match ($319), which looks for genetic markers found in 70 percent of known Native American men; and Cohanim Match ($299), which finds genetic similarities to men who are Cohanim Jews. Family Tree DNA's latest offerings are the Oxford Conversion Kit ($100) and Oxford Conversion Kit Plus ($180), which add the results of Oxford Ancestors customers to the Family Tree DNA database and allow you to search for matches.
Women and men can order Maternal Match ($219), which searches for matches with similar mitochondrial DNA; Native American Match ($319), which tells you which of the five major groups that settled in the Americas you are most likely to be descended from; mtDNA Refine ($95), which narrows Maternal Match results to more recent common ancestors; and mtDNAPlus ($299), a more specific test of maternal ancestry than Maternal Match. Men can save money on combination tests, which include Y-Chromosome and MtDNA Tests ($319), Y-DNAPlus and mtDNA ($379), and Y-DNAPlus and mtDNAPlus ($449).
A popular aspect of Family Tree DNA's services is alerting customers to a "match" — another customer whose DNA is the same — and connecting them via e-mail. Family Tree DNA's database currently contains DNA test results from 6,000 people in 80 countries. For more information and to order, visit <www.familytreedna.com>.
WHAT'S IN A NAME?
Testing your DNA alone can be helpful and revealing, especially with the growing number of online databases that may connect you with a match, but there is strength in numbers. Many genealogists have initiated group projects to test their family history hypotheses using DNA, sometimes leading to amazing discoveries. Family Tree DNA has worked with 120 families who organized DNA/surname projects. Company president Greenspan says these projects can "reconnect branches of the family that have become lost over time."
Chris Pomery first got the idea of doing a DNA study of "POMs" (Pomery's abbreviation for spelling variants of his name) after reading a BBC story about Bryan Sykes' surname study. He couldn't believe 5,000 men could be linked to a single forebear, and wanted to test the possibility on his own surname. After rounding up DNA samples from 52 POM males, he discovered the following:
• Around the 13th century, there were several POMs in England with different DNA signatures, so there is no single, original POM from whom they are all descended.
• Perhaps six modern family groups may be linked to the aristocratic Pomeroy family (though they don't have the paper records to prove it).
• Of those tested, 32 found one to seven other living POMs with the same DNA signature as their own. (Again, they haven't found written documentation of these relationships; it's all in their genes.) You can learn more about Pomery's DNA study and results at <freepages.genealogy.rootsweb.com/~allpoms>. This site also links to more than 100 other DNA surname studies and can give you ideas on how to start your own.
Kevin Duerinck organized the Duerinck Surname DNA Project because he was interested in the geographic origins of his surname. He's trying to relate all Duerincks and variant-spelled clans from around the world. "After working in genealogy for over 20 years and interacting with these various clans for almost four years, it was clear to me that we might have to test our DNA in order to relate all of the clans together," he says. "I wanted to know whether the ancestors of the Duerincks and like-spelled surnames came from Germany, and where in Germany did these people emigrate from?" After testing Duerincks from around the world, he found that three surnames are related: Duerinck, Durinck and Dierick. Their relationships go back hundreds of years before paper records in Europe. He also discovered the most recent common ancestor of all three surnames was of the Durinck clan. "The results also showed that I could eliminate from further testing any of the clans that were over three mutations away from Duerinck/Durinck," he says. "From a genealogy standpoint, a most recent common ancestor living thousands of years away is just not significant, and gets more into ‘deep ancestry,’ rather than genealogy."
Duerinck is now having his DNA tested for more markers, hoping that other like clans will do the same. "I also hope to convince more clans to be tested so that we could have a more complete global picture of whether the clans are related or not," he adds.
In Larry Bowling's case, a family tale prompted him to look to genetic records for genealogical answers. "Many Bowlings/Boilings have probably heard from older family members that they descend from Pocahontas, whether true or not," he says. (I can attest to this: I have Boilings in my family tree and have, indeed, heard this tale from my grandfather.) However, only one Boiling is actually linked to Pocahontas. So when the Boiling Family Association underwent a DNA study, its first objective was to identify the Y chromosome DNA signature of the various Boiling immigrants to the United States.
"Thus far, we have identified eight families that are unique, [meaning] they do not share a common male ancestor for thousands of generations," Bowling says. Several of the families had enough participants that matched exactly 12 of 12 genetic markers that they now have the Y chromosome signature of their Boiling ancestor. "We are starting to shed light on a lot of misinformation that previously existed and will continue to do so as the study grows," he continues. "Since our study is not restricted to members of Boiling Family Association, but only males with the surname of Boiling (all spellings), it is growing daily as more individuals seek knowledge about their roots."
A GLOBAL APPROACH
While individuals and surname groups test their DNA in small numbers, larger forces are at work attempting to elevate genetic genealogy to a globally accessible resource.
The Center for Molecular Genealogy at Brigham Young University is currently collecting DNA samples and corresponding pedigree charts from thousands of people all over the world for its Molecular Genealogy Research Project. The project's goal is to establish the world's most comprehensive genealogy and genetics database and provide a tool to reconstruct individual genealogies. The researchers hope to collect DNA samples from 100,000 people.
The project began when director Scott Woodward was in Egypt 12 years ago on an archaeological expedition. Scientists wanted to determine who was buried in a cemetery that contained no tombstones or other identifying markers. Some of the bodies were buried in clusters, and DNA testing revealed they were a family. The scientists took DNA samples from modern Egyptians and compared them to those from the bodies found in the cemetery, showing how closely they were related. "We have a lot of shared ancestors," Woodward says, because of cousins who married each other over the years. "We're looking for those genes we share." After 650 people contributed their DNA to the project, the scientists found one individual who was related to 46 percent of the group within 14 generations.
The BYU project collects both genealogical and genetic information from participants. On the genealogical side, participants submit pedigrees containing four generations, including each ancestor's city, state, country and date of birth. To fill in the blanks, project officials will consult other sources of genealogies, such as online family tree files and public databases. At the same time, they will collect DNA samples through blood and cheek cell samples and test the DNA. Once the dates and places are extracted from the pedigrees, scientists will compare the genetic signatures attached to them. The project still needs participants; visit <molecular-genealogy.byu.edu> to learn more.
JUST ONE PIECE OF THE PUZZLE
Despite the exciting possibilities of genetic genealogy, it's not the Holy Grail of family history. Both geneticists and genealogists urge family historians to continue researching their roots using records and oral history. DNA should serve only as a complement to these more traditional research routes. Says Family Tree DNA's Greenspan: "Don't do a DNA test until you've exhausted the paper search. Use DNA when you get to a point where you can't go any further."
Also, the databases of DNA samples (and their associated family history information) are just beginning to grow. As more genealogists catch on, these databases will build and become better resources for connecting with unknown relatives. But for now, their use is limited. "The isolated analysis of one individual's DNA is a bit like the sound of one hand clapping. Unless you are trying to prove a relationship to a specific person(s) who is also tested, DNA testing is not going to tell you very much," says family history researcher Nancy Custer, who has used DNA testing for her genealogy. "As surname studies increase and their results are pooled in searchable databases, individuals may stumble onto matches that will tie them to long-lost ancestors. I am not optimistic this is going to happen in the very near future, as the whole field is just tooling up and only a minuscule fraction of surnames have any representation at all."
Custer also points out that the DNA tests available for genealogy are applicable to only a small fraction of your ancestry — the direct paternal and direct maternal lines. Ann Turner, who administers the Genealogy-DNA mailing list on RootsWeb, echoes this caution about DNA's limitations. "It's important to understand what DNA testing can and cannot do," she says. "It cannot prove descent from a particular person, but it can support a hypothesis — or, to your dismay, definitively rule it out. A hypothesis is very important. It's premature to order a DNA test for yourself and hope for a blind match in a database (although many people are simply curious about what their DNA test would look like and how they might fit into the ancient migrations of people around the world)."
find it on the web
• Kevin Duerinck Genealogy Home Page
• The Pomeroy DNA Project
• Cyndi's List: Genetics, DNA & Family Health
• Family Tree DNA
• Genealogy-DNA Mailing List
• Molecular Genealogy Research Project
• Surnames, Genes and Genealogy
• Oxford Ancestors
• Genetic Genealogy
AND THE CRYSTAL BALL SAYS …
Nonetheless, the future of genetic genealogy holds many promising possibilities. "As databases get built up, DNA will clearly point a person in a general direction," says Greenspan. "As the databases get bigger, they only get more exciting." Chris Pomery predicts that DNA will become just as important and commonplace as written records: "In a decade, genealogy will be a twin-track activity using integrated documentary and DNA evidence. The idea of doing wide-ranging research without either method will seem rather strange." Bob Durham, co-founder of the genetics company Agenus, foresees "much more information collected and organized that will benefit genetic genealogy research efforts. We will see new technologies emerge that will have a dramatic impact on the effectiveness of genetic genealogy research."
If you want to cover your bases before genetic genealogy reaches these heights, you may want to consider having your DNA samples stored for future use. GeneSaver <www.genesaver.com> offers this service. "GeneSaver was started in 1996 because we were concerned about all the valuable DNA data that is lost forever when someone dies," explains co-founder Edwin M. Knights. "We sought a way for families to have their own, private DNA banks at home." The company sells kits that collect blood samples, which customers send in to be freeze-dried and stored in small vials in which the air has been replaced by nitrogen gas. The custom-engraved opaque containers must be sawed open for analysis (preventing tampering or contamination). They can be stored without refrigeration, ready for analysis at any point in the future. The total cost is just under $100. Agenus <www.agenus.com> is another DNA-preservation source, though it stores the DNA for you instead of sending you a vial to keep at home. Agenus will store a sample for 25 years for $280, or 50 years for $380.
Maybe all this talk of Ys and mtDNA and genetics is bringing back bad memories of high school biology class ("When are we ever going to need to know this stuff?"). But don't let the scientific aspects of genetic genealogy intimidate you. After years of facing those brick walls and dead ends, it may end up being your best tool yet.
On the bookshelf
DNA for Family Historians by Alan Savin (self-published); order at <www.savin.org/dna/dna-book.html>
How to DNA Test Our Family Relationships by Terry Carmichael and Alexander Ivanov Kuklin (Ace N Press)
The Seven Daughters of Eve: The Science That Reveals Our Genetic Ancestry by Bryan Sykes (W.W.Norton)
Double helix double talk
AUTOSOMAL DNA: The genetic material we inherit equally from mother and father; makes up 99 percent of our DNA.
CHROMOSOME: A threadlike linear strand of DNA that carries the genes and transmits hereditary information.
DNA: The molecule that contains each individual cell's genetic code, organized into 23 pairs of chromosomes.
GENE: A hereditary unit consisting of a sequence of DNA that
occupies a specific location on a chromosome and determines a
particular characteristic in an organism. Genes undergo mutation when
their DNA sequence changes.
GENETIC MARKER: Represents a specific location on a chromosome where the basic genetic units exist in a variable number of repeated copies.
GENOTYPE/SIGNATURE: The compilation of multiple genetic markers; serves as the unique genetic identifier for any given individual.
MITOCHONDRIAL DNA: Genetic material in both males and females, inherited from the mother.
Y CHROMOSOME: Genetic material passed down from father to son.
From the August 2002 issue of Family Tree Magazine