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Wednesday, April 26, 2006
Confirmation of a Prehistoric Asian Element in Northeastern Europe

The presence of an ancient Asian element in Northern Europe has been documented using multiple sets of genetic markers, including Y chromosome haplogroups and classical genetic markers. This element is commonly identified with migrations of Uralic speaking peoples from Siberia in prehistoric times. DNA Tribes analyses of Northeastern European populations corroborate these observations.

The Y chromosome haplogroup haplogroup N (LLY22g) has been observed at high frequencies in Northern Scandinavia, the Baltic nations, Finland, and Russia, and is descended from haplogroup K, which originated in Siberia and is believed to have been brought to Northern Europe by Uralic speakers approximately 5,000 years ago. (See Passarino et. al., Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms, Eur J Hum Genet. 2002 Sep;10(9):521-9).

Dr. Luigi Luca Cavalli-Sforza described the second principal component of European genetic diversity using classical genetic markers. This PC reaches one extreme in northern Scandinavia and has been interpreted as reflecting "migrations of Mongoloid Uralic speakers from Northwestern Asia." (Cavalli-Sforza et. al., The History and Geography of Human Genes, first abridged paperback edition, p.292).

These findings have been corroborated by genetic admixture testing companies, who report consistent observations of Asian admixture in individuals of Northern European descent.

DNA Tribes analysis of modal genetic profiles from Russian (see PDF) and Lithuanian (see PDF) population samples corroborates this deep ancestral connection. Each of these populations obtains strong matches with not only Eastern European populations, but also Central Asian and Siberian populations.

Native Match results for the modal Russian profile include:
  1. Inupiat (Alaska) (48)
  2. Lhoba (Tibet) (47)
  3. Russian (39)
  4. Ashkenazi (Budapest, Hungary) (34)
  5. Szekler (Romania) (25)
  6. Southeast Poland (23)
  7. Catalan (Spain) (23)
  8. Galician (Spain) (22)
  9. Russian Orthodox Old Believers (Suwalki, Poland) (20)
  10. Polish (20)

Global Match results for the modal Russian profile include:
  1. Tatar (Poland) (74)
  2. Inupiat (Alaska) (48)
  3. Lhoba (Tibet) (47)
  4. Chamorros (Guam) (39)
  5. Russian (39)
  6. Ashkenazi (Budapest, Hungary) (34)
  7. Caucasian (28)
  8. Szekler (Romania) (25)
  9. Southeast Poland (23)
  10. Catalan (Spain) (23)

Noteworthy amongst these matches are Tatar, Inupiat, Lhoba, and Chamorros. Each of these populations has a history of intercontinental contact between Asian and European populations. The Tatars are a Central Asian ethnic group, some of whom settled in Eastern Europe following the Middle Ages. The Inupiat are an Inuit people of Alaska and the Bering Strait region that connects Siberia to North America. The Lhoba are an ethnic group in Tibet in Central Asia. The Chamorros are natives of the Mariana Islands, who have since mixed with Europeans following Spanish and American occupation of the region.

Native Match results for the modal Lithuanian profile include:
  1. Inupiat (Alaska) (140)
  2. Ashkenazi (Budapest, Hungary) (136)
  3. Polish (65)
  4. Lithuanian (56)
  5. Szekler (Romania) (52)
  6. Tunisian (44)
  7. North Poland (43)
  8. Russian (40)
  9. Bosnia-Herzogovinia (35)
  10. Albanian (Kosovo, Albania) (30)

Global Match results for the modal Lithuanian profile include:
  1. Inupiat (Alaska) (140)
  2. Ashkenazi (Budapest, Hungary) (136)
  3. Tatar (Poland) (117)
  4. Chamorros (Guam) (109)
  5. Polish (65)
  6. Lithuanian (56)
  7. Szekler (Romania) (52)
  8. Tunisian (44)
  9. North Poland (43)
  10. Russian (40)

As with the modal Russian profile, we observe the strongest matches with populations of blended Asian-European ancestry. These matches indicate that the Russian and Lithuanian populations include an important ancestral element best represented by Siberian and Asian-European admixed populations.

Similar Central Asian matches have been observed for some DNA Tribes customers of Northern European ancestry. As we expand our population database to include more Northern European and Siberian populations, it is likely that these affinities will be clarified, possibly reaching a maximum in Finnish populations.


Thursday, April 20, 2006
Genes, Ethnicity, and Geography

A question commonly asked concerns the relationship between genetic affinity and ethnic membership. The most robust finding of population genetics is that genetic distance correlates with geographical distance, and that genetic variation often follows orderly geographical patterns. DNA Tribes identifies an individual's relation to these geographical patterns by identifying the locations where a person's blend of genes is most concentrated.

An important point is that ethnicity doesn't correspond precisely with genetic affinity. Ethnicity is a useful way of labeling population samples and identifying geographical genetic structure, but should be interpreted with caution. This is because all ethnic groups are in a state of flux to some extent as they move, expand, and come in contact with neighboring peoples.

For instance, the Madeira Archipelago is known to have been populated by Portuguese settlers. However, a Y chromosome study of the Madeira Archipelago (Y-chromosome STR haplotypes in the Madeira archipelago population. Forensic Sci Int. 2001 Nov 1;122(2-3):178-80) found haplotypes characteristic of Northern Europe but not identified in modern Portuguese. Explanations for this could be sampling error or simply that the Portuguese who settled the Madeira Archipelago were not representative of modern Portuguese. This Madeiran example demonstrates that multiple regions of the same ostensible ethnicity or nationality can be somewhat different from one another. People have moved and mixed, even within European nations, in the last centuries; likewise, national borders have shifted considerably even in the past 200 years.

The key to interpreting results is that genetic variation is primarily geographic. Correlations of genetic markers with ethnicity are generally indirect effects of geographical patterns. Many of these geographical patterns are ancient, and pre-date the formation of ethnic groups as we know them. They often correspond closely to patterns observed for other loci, such as Y chromosome haplogroup distributions.

The most basic information included with DNA Tribes results are the ethnic/national matches and their MLI scores and the maps showing their geographical distribution. MLI scores indicate the likelihood of each match, and map locations indicate where a genetic profile is most geographically concentrated. This is the core information, which the interpretive guidelines (Excellent, Good, Weak, Poor, etc.) seek to clarify. Native Match results are primarily geographical, and are best clarified by comparison to known geographical genetic patterns.

Individual results can often be clarified by reference to standard published works on the subject, including "The History and Geography of Human Genes" by Dr. Luigi Luca Cavalli-Sforza, as well as patterns of Y chromosome and mtDNA diversity documented in the academic literature. The most recent source to collect and synthesize observed patterns of Y chromosome and mtDNA diversity is "Human Population Genetics: Origins, People, and Disease" by Mark Jobling. Both of these books include many maps that can be compared with DNA Tribes results.


Saturday, April 08, 2006
Customer Questions about Admixture and Ancestral Lineages

A customer asks the important question: how is ethnic admixture reflected in DNA Tribes results?

People of admixed background generally obtain one of three patterns of results: (1) multiple clusters of matches, each centered in the region of one ancestral source; (2) a cluster of matches representing a geographical region intermediate between the geographical sources of ancestry; (3) matches with modern diaspora populations of similar overall ancestral makeup.

(1) is most likely for individuals whose recent ancestor groups did not generally come in contact. For instance, someone of Chinese and Nigerian ancestry would likely obtain two clusters of matches, one cluster in West Africa and another cluster in East Asia. (2) is most likely for individuals whose ancestral groups came in substantial historical contact. For instance, someone of admixed Western and Eastern European ancestry would likely obtain results in Central Europe, and perhaps extending into both Western and Eastern Europe. (3) is most likely for individuals of admixed ancestry that is common for modern admixed ethnicities. For instance, the combination of European-Native American is common for Hispanic and admixed Native American populations, and people of European and Native American admixture generally match these populations. In generaly, the observed patterns are dependent upon how an individual's combination of allele values is distributed in the population samples in our database.

However, individuals of unmixed ethnicity can also obtain results that are either geographically concentrated or spread over a wider region. As with admixed individuals, the observed pattern of matches depends on the underlying genetic structure of the populations in our database. Geographic patterns of DNA Tribes matches generally correspond to previously observed distributions of genetic variation. For instance, predominantly Atlantic, Mediterranean, North African, West African, Northeast Asian, Southeast Asian, Native American, or Siberian patterns of matches.

Individual results can often be clarified by reference to standard published works on the subject, including "The History and Geography of Human Genes" by Dr. Luigi Luca Cavalli-Sforza, as well as patterns of Y chromosome and mtDNA diversity documented in the academic literature. The most recent source to collect and synthesize observed patterns of Y chromosome and mtDNA diversity is "Human Population Genetics: Origins, People, and Disease" by Mark Jobling.

A customer asks the question: are ancestral lineages reflected in DNA Tribes results?

The autosomal loci we test are recombinant, which means there are no clearly identifiable lineages. Each allele value at a locus can represent: (1) an allele value identical to one grandparent's; or (2) a recombinant value produced by the crossing-over of two grandparents' alleles. At that locus, the other allele value represents the same two possibilities from the other parent's side.

Recombinant loci provide an important source of genetic data about a person's ancestry, precisely because they are not inherited as lineages. Most genetic material is passed down through recombinant loci such as the ones we test. The combination of allele values we test for each individual profile provide a picture of a person's overall ancestry. This can complement information from Y chromosome or mtDNA results by providing a more balanced view of personal ancestry, or often by corroborating previous test results.


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