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review of scientific and news articles on dna testing and popular genetics

The China Wire - Part Three

Tuesday, August 12, 2014

Rare Chinese Allele Found Among Southwestern U.S. Hispanics and North Mexican Indians

Like about 5 percent of North Americans, Francesca Serrano was adopted and never knew her birth parents. Wishing to find out her ancestry, she took our DNA Fingerprint Plus, an autosomal test based on an analysis of STR frequencies that can suggest overall ancestry matches to world populations. The caseworker who prepared her report was amazed at all the apparent Chinese ancestry mixed with Hispanic and Native American.

Photo:  A Chinese woman.

After delivering the report recently, we nervously interviewed Serrano, who works in an East Coast DNA diagnostic center. She explained that the results made perfect sense. She grew up in Colima, Mexico, and people often asked her, "Do you have any Asian going on in you?"

Taking a closer look at her 16-locus STR profile, we noticed several unusual alleles. We will focus on one of them in this report, a value of 9 at D16S539. Admittedly, this is only one tiny ray of light into the genomic inheritance of a person, but geneticists have proved the utility of examining single STRs like this.

Sioux Need Not Apply

A rather sensational article—if genetics literature can ever be considered crowd-inciting—appeared in 2007, when Kari Schroeder and her team at the Department of Anthropology, University of California, Davis, showed that a value of 9 at D9S1120 cropped up in sample profiles of 35.4% of North and South American Indians as well as "West Beringians." This marker was later dubbed a "private allele" shared by the members of a small hunting party that crossed the Bering Land Bridge and spread through the Americas many, many moons ago (the "single entry" theory).

STRs mutate almost as slowly as mitochondrial DNA and can therefore be useful markers for deep ancestry (see our post, "Evolution and Ancestry:  DNA Mutation Rates," October 23, 2012). One must be careful, however, not to make too much of them. For instance, the Sioux and Jemez reported 0.0% frequency of the touted allele (see Schroeder et al., "Haplotypic Background of a Private Allele at High Frequency in the Americas," Mol. Biol. Evol. 26/5 [2009] 1003), but that doesn't make them any less Indian than the others. Try telling any Lakota Sioux he is less Indian than the others.

In Hispanic people in the American Southwest, our allele (which we will call for the sake of convenience "the Serrano allele") occurs in only 8% percent of the population. It is not even among the most common possible numbers on that location; a repeat of 11 occurs in 31%.

Population

 

% =9

Southwestern Hispanics

7.9

California Hispanics

10.3

Arizona Hispanics

11.1

Navajos

16.8

Apaches

9.9

Chihuahua

11.2

Huichol Indians Chiapas

7.5

El Salvador

12.8



























 
Analysis and Conclusion
From these figures, we get a general picture of the Serrano allele running relatively high, though still a minority report, in Western Hispanics, Mexicans and Indians. It is highest in the Navajos (who are rumored to have migrated from Chinese Turkistan in historical times). It is about the same in Arizona Hispanics as Mexicans from Chihuahua. We have no data from Sonora or Sinaloa, unfortunately.

Although present at an average frequency of about 12% in American Indian populations, the Serrano allele reaches its highest level among the Salishan Indians of British Columbia, where it is 30%. In neighboring regions of Canada, indigenous people have only about 8% of it (Saskatchewan aboriginals). 

Everything comes from somewhere, and the Serrano allele in terms of human history is no exception. Its frequency is low or entirely absent in European populations and extremely high in East Asian, where it is highest among the Atayal tribe of Taiwanese aborigines (52%). It is also elevated among the Evenks (one of Russia's native peoples), the Japanese, Pacific Islanders and Koreans. It is about the same level in Central, North, Chaozhou, Sichuan, Cantonese and Singapore Chinese populations, about 25%.

Like all alleles it is found in Africa, the ultimate source of all present-day humans, in modest amounts, but in even scarcer quantities in all the populations between there and North Asia. It enjoyed an enormous expansion in China.

It averages only 2.4% in all Native Americans, showing it is an extremely rare allele for American Indians to have overall. 

Serrano's No. 1 match on the basis of her entire profile (13 loci) is Chinese Hui - Ningxia. In this homeland of the Tangut people which once formed part of the Xia Xian Empire, the value of 9 on this marker is modal, with a frequency of 30%. 

What are we to make of a single allele that is relatively rare in Native Americans, even rarer in European, Middle Eastern and other populations, but modal in some Chinese populations, with an apparent ancient center of diffusion in Taiwan? We conclude that it just may be a vestige of Asian DNA from China's ancient and medieval periods of history, not deep history tracing back to Siberia.

In our next post we will see if any confirmatory evidence comes from other avenues of investigation.

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DNA Consultants Method in a Nutshell

Monday, July 21, 2014
We often are asked, "How does your ancestry analysis work," and "What makes it different from other methods?" Principal Investigator Donald Yates was recently interviewed along these lines and here are his answers.

How do DNA ancestry tests work—or not work? It is fairly simple to explain the difference between first-generation tests that looked at your sex-linked lines and the new wave of admixture and population match tests that examine your whole ancestry.  The pitfalls of Y chromosome and mitochondrial haplotying tests are well known: information limited to only two lines in your tree, irrelevant broad matches instead of valid exact matches, false results from non-paternity events, outdated genetic theories about human prehistory and historical migrations and so forth. So-called "percentage tests" did little to alleviate the situation. Now many companies are claiming to test thousands of SNPs (single nucleotide polymorphisms). However, the inferences linked to these are mostly still based on sex-linked data, medical studies and haplotype surveys. That is not truly an autosomal method, since the meaning of autosomal is non-sex-linked.  The DNA profile method (CoDIS markers) offers the next best thing to "percentage tests." Using true autosomal data and capturing published STR values for world populations, it calculates your random match frequencies and can probabilistically predict ancestry according to several parameters, including metapopulations, megapopulations, ethnic marker affinity and rare alleles.

Above:  Each test in the DNA Fingerprint family of products starts with a 16-loci DNA fingerprint or profile from the lab. Green indicates the so-called "core CoDEX" loci, which yield the greatest coverage in population data. Yellow shows four additional ones for which there is a lesser number of populations, and blue shows two extra loci used in the European system (our EURO section). 

For more information

Autosomal DNA Set to Rewrite History of "Peopling of the Americas" (announcement)
Emerging Prehistory of Ethnic Groups (blog post)
Autosomal Testing Revalidated (blog post)


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Rare Genes from History Revisited

Thursday, June 19, 2014
Check Out DNA Fingerprint Plus $300 



It's been a year and a half since DNA Consultants introduced Rare Genes from History. We republish here the original press release from October 2012 as a means of familiarizing new and old customers with this unique autosomal marker test, exclusive to our company. Purchase now for only $149 ($134.10 with your customer discount).

For descriptions of all 26 Rare Genes from History, visit the product page

If you have received your Rare Genes from History results, we encourage you to discuss them with others in the free forums at DNA Communities. How many did you get? Were they European, Native American, African or Asian? Do you think you got a given rare gene from your mother or father? From both?



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. 

"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."

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. 

#  #  #  


Distribution map of the Egyptian Gene shows its African origin, partial presence in Coptic populations today (green dots in Egypt) and scattered incidence around the world. 





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Where Do I Come From: James Shoemaker

Saturday, November 16, 2013

Where Do I Come From: James Shoemaker

Real People's DNA Stories

Bible Studies, DNA Tests, Mother's Nursing-Home Confessions Lead to New Life

NOVEMBER 16, 2013 — Until he took an autosomal ancestry test, James T. Shoemaker had little concept of his heritage. He assumed he was just an average white European American like his Appalachian neighbors.

Although raised in a Pentecostal Church, Shoemaker always felt a strong pull toward Jewish culture. So last year he went to his doctor and asked for a DNA test. "I wanted to see if there were any Jewish lines in my ancestry," he said.

He ended up taking a DNA Fingerprint Plus, a complete analysis of one's genetic ancestry that includes ethnic markers and megapopulation admixture matches.

Fast forward from that first eye-opener and today the 53-year-old Waynesboro, Pa. resident is halfway through a conversion process to Judaism at B'nai Abraham, a Reform congregation in Hagerstown, Md., where he is being mentored by youngish Rabbi Ari Plost.

"I got all three ancestral markers for Jewish I, II and III," Shoemaker recalls, “so I went to see my mother, Jacqueline Rose, at the nursing home in Hagerstown, and she admitted, ‘Well, yeah, my parents, uh, they were both Jewish."

It was the first he had heard of it. “Mom never said a word about having Jewish ancestors. It turned my life around.”

The fact that he got a "double dose" of Jewish alleles in his marker results confirmed the truth of his mother's admission that both she and his father came from Jewish families.

Shoemaker next took a Premium Male DNA Ancestry Test to determine whether his father's Y chromosome line was perhaps Jewish. The results were delivered to him in mid-November.

His particular haplotype did indeed match several other Jewish men, including those with the surnames Brown, Hendrix, Shepard, Getz, Phillips, Lewetag and Sequeira. "The subject’s specific male haplotype (surname line) probably came from Southwest Germany or the Low Lands, to judge from the modal matches and patterns of distribution," according to the report.

As for the surname itself, the Surname History section (included in every Premium Male report, cost $325.00), had some valuable clues for Shoemaker's genealogy.

"Shoemaker is probably a translation of the Dutch or German equivalent Schuhmacher or Shumacher meaning "shoemaker." It is noted as a Jewish family name in Southwest Germany and the Saarland in France, including Lörrach in Baden (Lars Menk, A Dictionary of German Jewish Surnames, Bergenfield: Avotaynu, 2005, pp. 673-74). It could also come from Schuster, a more common Jewish German surname (p. 675)."

A Mason since 1990, and flirting at one time with Messianic Judaism, Shoemaker feels as though his earlier attempts to connect with his Jewish heritage were blind and unguided without the hard testimony of DNA. "All these things I've been interested in with my studies and religious life now fall into place," he said. "I'm finding out why."

What lies in the future? This Pesach, Shoemaker will have an official bar mitzvah, complete with ritual bath and reading from the Torah. He then plans to attend Hebrew Union College in Cincinnati. "What I am really looking forward to," he says, "is making aliyah to the Land of Israel."

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Where Do I Come From: Donald Yates

Monday, July 29, 2013

Where Do I Come From

Real People's DNA Stories 


Sizemore Indians and British Jews

By Donald N. Yates

As soon as EURO DNA was released last month I quickly studied my new list of European nationalities where I have significant ancestral lines according to DNA Consultants' new autosomal population analysis. I had come to know and accept, of course, the usual suspects, compiled from the 24 populations available from ENFSI (European Network of Forensic Science Institutes). But the new list represented 71 populations and far surpassed ENFSI or any other database in commercial use. It had, for instance, the first European comparisons for countries like Hungary, Lithuania, Malta and Iceland. So how would my familiar matches—Scotland, Ireland, England, Belgium and the rest—shake out in the new oracle?

Some of the top matches—above British Isles or Northern European ancestry—were Central European. Here were the top 20:

Rank European Population Matches
1 Slovakia – Saris (n=848)
2 Finland (n = 469)
3 Slovakia – Zemplin (n=558)
4 Netherlands  (n = 231)
5 Slovakia – Spis (n=296)
6 Romanian - Transylvanian - Szekler (n = 257)
7 Romanian - Transylvanian - Csango (n = 220)
8 Scotland/Dundee (n = 228)
9 Switzerland (n = 200)
10 England/Wales (n = 437)
11 Ireland (n = 300)
12 Italy (n =103)
13 Denmark  (n = 156)
14 Romanian (n=243)
15 Swedish (n = 311)
16 Serbian - Serbia / Vojvodina / Montenegro (n = 100)
17 Icelandic (n=151)
18 Estonia (n = 150)
19 Romanian - Transylvania/Banat (n = 219)
20 Norwegian (n=1000)

Slovakia? Romania? To be sure, I had always had a fascination with both countries. In my salad days I studied in Europe and traveled to Bratislava, where I fell in love at first sight with the chiseled blonde visage of a friend of my university classmate. And I had also been to Romania in the days of its Communist regime, when my long-haired travel companion and I were welcomed like long lost relatives or conquering pop heroes. 

Admittedly, the results of an autosomal ancestry test are cumulative and combinatory. While they do reflect all your ancestry, as no other test can, you are cautioned not to use the matches to try to pinpoint lines in your family genealogy. There is always a temptation to over-interpret. 

My European admixture results from AncestryByDNA had yielded a confirmatory result:  20% Southeast Europe. That struck me at the time as odd. Yet Hungarian was now one of my top metapopulation results, too. (Remember, Hungarian data did not figure into ENFSI because Hungary is not in the European Union.)

The Scottish (my grandmother was a McDonald) made sense, as did all the other matches from what I knew through years of paper genealogy research. But I was unaware of any strong Central European lines.

Sizemore Research:  Pitfalls of Genetic Genealogy
Then I recalled the Sizemores. My great-great-grandmother was a Sizemore, and they were multiply connected with my Coopers, my mother's maiden name. Could the Central European effect in my EURO result be from the Sizemores?

Much ink—or at least many keystrokes—has been expended on the Sizemore controversy. There are pitched battles on genealogy forums and edit wars in cyberspace. One armed camp has them down as Melungeons and admixed Cherokees with crypto-Jewish strains. Another holds it as an article of faith that the Sizemores were a lily-white old Virginia British family and the surname comes from something like Sigismund (think Goetterdaemmerung). Y chromosome DNA shows ambiguous conclusions:  you can visit the advertisement page sponsored by Family Tree DNA. 

Alan Lerwick, a Salt Lake City genealogist, upset the apple cart some years ago by linking America's Sizemores to Michael Sismore, buried in the Flemish cemetery of the Collegiate Church of St Katherine by the Tower in London in 1684. That was the same parish as my Coopers lived in. Then and now, it is the most Jewish section of London.

Sizemore is not a British surname before the sixteenth century. It was clear to me long ago that neither my Sizemores nor my Coopers were Mama Bear, Papa Bear families. Spurred by my EURO DNA test results, I dug into my subscription at Ancestry.com and learned that Michael Sismore was recorded as being born as Michael Seasmer in Ashwell, an important village in north Hertfordshire, November 1, 1620. His parents were Edward Seasmer and Betterissa (a form of Beatrice). New information! Alert the list moderators and surname project guardians!

Seasmer is undoubtedly the same as Zizmer, an old Central European Jewish surname adduced in multiple families in Israel, Romania, Czechoslovakia, Germany, Austria, Russia, Moldavia and the United States. Edward and Michael are favored first-names in the U.S. branches. The Hebrew letters, which can be viewed on numerous burials in Israel, are  (in reverse order, right to left) RMZZ. Cooper is a similar Jewish surname, common in Russia and Lithuania and Israel as well as the British Isles and the U.S. In fact, my father's surname, Yates, is a Hebrew anagram common in the same countries, meaning "Righteous Convert."

Hertfordshire was an important center for British Jewry, mentioned in the works of Hyamson, Jacobs and others (see map above). A good hypothesis to explain the transformation of Michael's name from Seasmer to Sismore and thence to Sizemore is this. His grandfather, a Zizmer, came to England in the time of Elizabeth, perhaps via the Low Lands, possibly as a soldier or cloth merchant. This could account for Michael Sizemore's burial in the Flemish cemetery of St Katharine's by the Tower, usually reserved for foreigners. It also explains the predilection in descendants for such names as Ephraim, Michael, Edward, William, John, Richard, James, George, Hiram, Isaac, Samuel, Solomon and Henry. And why girls were named Lillie, Lydia, Louisa, Naomi, Pharaba, Rebecca, Sarah and Vitula. The last name (also found in my wife's grandmother's name) was a Jewish amulet name. It meant "old woman" in Latin and was given to a child to augur a long life. 

Zismer took the form of Cismar, Cismarik, Zhesmer, Zizmor, Ziesmer, Zausmer, Cismaru and Tzismaro—all amply attested in the records of European Jewry, including Jewish Gen's Holocaust Database, with the records of over two million victims and survivors of the Nazi genocide of World War II. I am proud of my Jewish heritage through my great-grandmother and through my half-blood Cherokee Indian mother Bessie Cooper Yates. 

Thank you for indulging me in this genealogical excursion into a family mystery. Like the restaurateur, I would be to blame if I didn't eat in my own establishment. I can confidently say that DNA Consultants' new EURO DNA is a smorgasbord of genetic delights for those jaded by the old-fashioned sex-linked testing. I thank our R&D team, in particular Professor Wendell Paulson, our head statistics consultant, along with all those who helped vet its amazing power, and I encourage you to try it today!














Comments

Zoltan commented on 13-Sep-2013 03:48 PM

About Seizmore. If it really relates to Zizmer, Cismar etc. then it is a pure Hungarian surename: Csizm√°r, with the meaning of boot maker (Csizma=boot from the old turkish word of cizme)
Please note that the refferred areas of Slovakia and Transylvania are former Hungarian territories, so the connection is clear and matches with your DNA.

I do not know when you wrote the article but Hungary is in the EU since 2005.

I hope I could help.


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Where Do I Come From: Shawn

Monday, July 22, 2013

Where Do I Come from:  Shawn

Real People's DNA Stories

Ethnicity Beyond European Migration

By Shawn

My journey into DNA testing began with my desire to expand on my known heritage, while clarifying debated Jewish ancestry.  What I have found in return is that my ancestral paper trail only uncovers a small portion of the blood that runs through my veins.  My DNA Consultants results, for the most part were quite surprising.  My European matches were fairly consistent with my country origins on paper and surrounding areas.  The major surprise, however, was that my number one European match was Romani/Gypsy and my number 10 match was Czech Republic.... 

Things became much more interesting with my World Population Matches.  My scores (in order) were Romani/Gypsy, Middle Eastern, African, Iberian, Central European, African-American, Jewish, Mediterranean European, European American and Eastern European.  I also came up with Native American admixture to top it off.  These results are causing me to believe that there may be a line or more of family lineages that I have yet to tap into. 

Looking back on things now, I have received comments from others concerning my phenotype such as "I'm not sure what you are,” "You don't look Irish" and "You must have some Black ancestry."  Some have even just assumed I was Hispanic or Caucasian.  Interestingly enough, almost all acknowledge that they see my Italian/Spanish phenotype, while a few also see slight Native American.   

While my results provided insight into how diverse my blood really is, they also put an end to an age-old family debate as to our Jewish ethnicity.  One of my relatives from a few generations past would passionately defend her position that our family line was indeed Jewish, while another family member would vigorously put forth his position that we were not Jewish.  He would try to prove our non-Jewishness any time he could.  I also had another family member along that same family line say that he almost did not get hired for a job because the hirer thought he was Jewish.  I always believed these accounts, especially since as young as I can remember I have found this side of my family (Italian and German) to phenotypically look Italian and/or Jewish.  

So where does all this leave me now?  My results show my blood is much more than simply Italian, French, Irish and German.  They confirm family testimony of Spanish/Portuguese/Iberian and Jewish ancestry.  Perhaps more interestingly, my results leave me re-assessing my ethnicity or multi-ethnic heritage, end years of family verbal passages or debates and leave me with intriguing new ancestries that are waiting to be discovered. 

Comments

Maria OConnor commented on 23-Jul-2013 12:42 AM

Shawn: Countries frontiers are artificial. For example, there are people of celtic heritage in northern Spain, northern Portugal, all over Ireland, all over England, all over Scotland, all over Wales, Southern Germany, northern France, Northern Italy, etc. All of them, even considering the come from different places have the same celtic DNA. So, if you have an ancestor from Spain or Portugal, could be of celtic origen, or mediterranean origen.
If a person has jewish sefardi dna, it could be originated from Southern Spain, Southern Portugal, North Africa, Middle East, etc.
Also, in South America there are great numbers of people of European ancestry, including non hispanic non portugue ancestry, like Irish, German, Italians, etc.
Is quite complicated, due to ancient and new migrations.


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Where Do I Come From: Kari Carpenter

Monday, July 15, 2013

Where Do I Come From?

Real People's DNA Stories 

Melungeon Revelation


By Kari Carpenter

Thank you to Donald Panther-Yates and the DNA Consultants staff for the prompt return of my Melungeon DNA Fingerprint results.  Several weeks ago, I had never even heard the word “Melungeon.” In preparation for an upcoming genealogy research trip, I just happened to go on amazon.com and read the introduction to Dr. Yates' book:  Old World Roots of the Cherokee. I was tremendously excited to see a description of the terms “Black Irish” and “Black Dutch.” Up until this time, I had been unable to find a satisfactory definition of these terms. My maternal grandmother had always stated that she was “Black Irish.” Another maternal great-grandmother reported her lineage as being “Black Dutch.” None of my family members seemed to know what those terms meant.

 

Needless to say, I quickly ordered the above-mentioned book, as well as other books by N. Brent Kennedy, Elizabeth Caldwell Hirschman and Wayne Winkler. It took me no time at all to realize that much of the family tree that I have diligently put together (over the last 6 years) was/is profoundly Melungeon. If I have accurately understood the information I have rapaciously absorbed over the last few weeks, and responsibly documented my family lineage, the following facts and information support this conclusion:

 

1.   After reading Old World Roots of the Cherokee, I realized that I am a distant Ramey/Reamy cousin of Teresa (Grimwood) Panther-Yates. My paternal grandmother was born a Reamy in Texas. Although I had known that the Remys had been French Huguenots, I had no clue about their Sephardic ancestry until I read this book. Similar to the Grimwood/Rameys ( in Chapter 9) my Reamy people also have a variety of unusual and distinctive first names:  Othera, Vida, Vita, Orvia (male), Olive (male), Rozella, Oleta, etc.

 

2.   The name of my 4th great-grandmother (paternal side) was Margaret Anna Goins. Her granddaughter, Margaret Ann England married my 2nd great-grandfather, Olive Nathaniel Reamy (see photo above). Margaret Anna Goins  and her husband William James Morris resided in Tennessee and Alabama before moving to Texas after the Civil War (with their daughter’s family).

 

3.   My great-grandfather Orvia N. Reamy consistently reported that his grandmother was of Cherokee ancestry. (He did so delightedly and repeatedly because it upset many other family members who would have much rather maintained a complete silence regarding their “less-than-white” ancestry.) This woman would have been Elmina C. (Morris) England – daughter of Margaret Anna Goins.  In addition to Goins being a major Melungeon surname, I believe that the inter-related Englands, Morrises, and Barnes of this branch of my family are also probably of Cherokee ancestry. Elmina Morris and husband Landy England gave their sons rather distinctive names of certain military generals prominent in the Creek/Redstick War.  

 

4.   My great grandmother Jesse Alice Ketchand (my mother’s, father’s mother) stated that she was Black Dutch. Family pictures show that Jesse Alice and her mother Martha Ann Cammack had Asian eye folds. This evidence and the family lore regarding Jesse Alice’s grand-father William Peterson Ketchand, strongly support Melungeon ancestry. It is said that sometime around 1834, “W.P.” got into some kind of trouble in Virginia, whereupon he and his new bride rapidly left the area.  W.P. subsequently made up a new surname:  “Ketchand”.  (The only people you will find in the U.S. today with this particular surname are descendants of W.P.). I have a very strong hunch that my family is probably connected and/or related to “Sister Kitchen” and “them melungins” mentioned in the Stony Creek Primitive Baptist Church records of 1813. I have researched and found that after leaving Virginia, W.P. and his family lived for some time in Georgia before moving on to southeastern Arkansas, where he was a minister of a Primitive Baptist Church in Ashley Co., Arkansas. I have visited this church building – it looks exactly like those described by Elizabeth C. Hirschman in Melungeons:  The Last Lost Tribe in America. W.P. and his son Jesse Enos Ketchand were listed as white on 1850 & 1860 U. S. Federal Census documents.  However, in the 1870 Ashley County Arkansas U.S. Federal Census,  Jesse Enos Ketchand and his family (including my great-grandmother Jesse Alice) were labeled “mulatto”.  

 

5.   My mother’s mother – Anna Laura Williams, stated that she was of “Black Irish” ancestry.  I have traced her maternal line only as far back as Anna’s great-grandmother:  Cynthia/”Sinthy” Love in Lawrence Co., AL in the 1820s/1830s. Lawrence County seemed to be a gathering spot for a large mixed race community, and the surnames that “Sinthy” was linked/married to appear to have connections with the Chickasaw and Cherokee tribes (Love, Rodgers/Rogers, Carpenter). I also received a fairly rare mtDNA haplogroup (W6) from this woman. 

 

6.   My various  immediate family members exhibit numerous examples of Anatolian bumps & ridges, Mongolian Blue Spots/Birthmarks, Asian Shovel Teeth, palatal torus and missing wisdom teeth/molars (one of my nephews has complete hypodontia;  i.e. NO adult molars). 

 

7.   Before my “Melungeon Revelation” I had researched that I was a descendant of Bacon’s Rebellion co-leader James Crewes and his Pahmunkey/Powhatan “wife.” Although colonial law did not allow his half-breed daughter Hannah any legal recognition or rights as his heir and daughter, James did his best to write a will bequeathing much of his estate to Hannah and her husband Giles Carter (shortly before he was hung by Gov. Berkeley for his part in the 1676 uprising). I have two family images of their descendants (my 2nd & 3rd great grand-mothers) that show features of their Native American heritage.

 

Given all the above details, I expected that my DNA results would reveal a wonderfully diverse Melungeon-American background. Thanks again to DNA Consultants again for both the expected and unexpected ethnic details! The Romani element was a bit of a surprise, and I’ll admit that I was disappointed to see that I did not inherit a Native American marker from either parent. (I have no doubt that one of my siblings probably did!)  These results will greatly aid me as I continue my genealogical research.

Photo above:  Margaret Ann England and Olive Nathaniel Reamy, the author's 2nd-great-grandparents. 

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Genetic Genealogy Like Astrology?

Monday, March 18, 2013

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 of DNA Consultants.

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.

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Rare Genes from Ancient DNA

Wednesday, October 17, 2012
Check Out DNA Fingerprint Plus $300 


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

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Rare Genes from History: New Autosomal Ancestry Markers from DNA Consultants

Sunday, September 30, 2012
Check Out DNA Fingerprint Plus $300 


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. 

#  #  #  


Distribution map of the Egyptian Gene shows its African origin, partial presence in Coptic populations today (green dots in Egypt) and scattered incidence around the world. 


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