Change of Address

Dienekes' Anthropology Blog new address is:

dienekes.blogspot.com.

Please update your links. I will no longer maintain this blog, although the archives will be kept online for some time in the future.

'The bones don't lie'

Read the whole story here.

He suspects the mystery man -- he knows it is a man from the large pelvis -- is a drowned derelict. He has already made his “eyeball diagnosis.” A Mongoloid, most likely American Indian. He doesn’t need a computer, but he likes the extra affirmation.

“I’ve seen thousands of skulls. I know what a typical black male and a typical American Indian male and a typical Caucasoid male looks like. And females. The way I work it only takes three or four minutes of looking at the skull. The way I use this program, I go ahead and take the measurements and put them in here. And if the computer and I agree, then I’m home free.”

He punches in the measurements:

“Facial height.”

Click … click … click.

“Nasal breadth.”

Click … click.

“Orbital breadth.”

Click … click … click.

When the numbers are all in, he clicks “process” and the program checks his measurements against several hundred skulls -- many less than Snow has analyzed himself -- in a database managed by forensic anthropologists at the University of Tennessee.

The results come back in seconds. “American Indian male. And it’s 86 percent positive.”

Iberian Y-chromosome Analysis

European Journal of Human Genetics advance online publication 28 July 2004; doi:10.1038/sj.ejhg.5201225

Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography

Carlos Flores et al.

Abstract

Europe has been influenced by both intra- and intercontinental migrations. Since the Iberian peninsula was a refuge during the Last Glacial Maximum, demographic factors associated with contraction, isolation, subsequent expansion and gene flow episodes have contributed complexity to its population history. In this work, we analysed 26 Y-chromosome biallelic markers in 568 chromosomes from 11 different Iberian population groups and compared them to published data on the Basques and Catalans to gain insight into the paternal gene pool of these populations and find out to what extent major demographic processes account for their genetic structure. Our results reveal a reduced, although geographically correlated, Y-chromosomal interpopulation variance (1.2%), which points to a limited heterogeneity in the region. Coincidentally, spatial analysis of genetic distances points to a focal distribution of Y-chromosome haplogroups in this area. These results indicate that neither old or recent Levantine expansions nor North African contacts have influenced the current Iberian Y-chromosome diversity so that geographical patterns can be identified.

Link

Weird Reality TV

Reality TV: Sperm and Simon Cowell?

There are reports today that Endemol, the people behind Big Brother, are working on a new show that would see a thousand men compete for the chance to father a child.

Amish in the City

No, "Amish in the City" is not the disrespectful series denounced on the floor of the U.S. House of Representatives for exploiting Amish tradition strictly for entertainment even before it started production. But, then, why would it be?

Inner Mongolia yields New Discoveries

A story about a set of relics from 6,500-5,000BC, including the following human head with clear Mongoloid characteristics.

Surname Studies of Ancient Patrilinal Population Structure

American Journal of Physical Anthropology
Early View (Articles online in advance of print)

New method for surname studies of ancient patrilineal population structures, and possible application to improvement of Y-chromosome sampling

Franz Manni et al.

Abstract

Several studies showed that surnames are good markers to infer patrilineal genetic structures of populations, both on regional and microregional scales. As a case study, the spatial patterns of the 9,929 most common surnames of the Netherlands were analyzed by a clustering method called self-organizing maps (SOMs). The resulting clusters grouped surnames with a similar geographic distribution and origin. The analysis was shown to be in agreement with already known features of Dutch surnames, such as 1) the geographic distribution of some well-known locative suffixes, 2) historical census data, 3) the distribution of foreign surnames, and 4) polyphyletic surnames. Thus, these results validate the SOM clustering of surnames, and allow for the generalization of the technique. This method can be applied as a new strategy for a better Y-chromosome sampling design in retrospective population genetics studies, since the idenfication of surnames with a defined geographic origin enables the selection of the living descendants of those families settled, centuries ago, in a given area. In other words, it becomes possible to virtually sample the population as it was when surnames started to be in use. We show that, in a given location, the descendants of those individuals who inhabited the area at the time of origin of surnames can be as low as 20%. This finding suggests 1) the major role played by recent migrations that are likely to have distorted or even defaced ancient genetic patterns, and 2) that standard-designed samplings can hardly portray a reliable picture of the ancient Y-chromosome variability of European populations.

Link

Arthur Kemp's Waterloo

Arthur Kemp, like his Nordicist intellectual forebears (e.g., turn of the century Nordicist, Ludwig Woltmann) has a propensity of discovering the presence of "Nordics" among the famous personalities of Europe.

One of the most hilarious such invented "Nordics" is Napoleon Bonaparte, the dark-haired, short-statured brachycephalic Corsican who, on account of his military and political genius, could not possibly escape mandatory Nordicization.

Bottom Left: Napoleon as King, by Appiani, 1805
Center: Napoleon at Arcole, Gros, 1796
Bottom Rigth: "Enhanced" picture used in March of the Titans and described by Arthur Kemp as "a Nordic racial type, born on the island of Corsica in the Mediterranean. Like all but the most extreme Nordics, his hair darkened as he got older."

(clickable image)

Eye colour: portals into pigmentation genes and ancestry

Trends in Genetics
Volume 20, Issue 8 , 1 August 2004, Pages 327-332
doi:10.1016/j.tig.2004.06.010

Richard A. Sturm, and Tony N. Frudakis

Abstract

Several recent papers have tried to address the genetic determination of eye colour via microsatellite linkage, testing of pigmentation candidate gene polymorphisms and the genome wide analysis of SNP markers that are informative for ancestry. These studies show that the OCA2 gene on chromosome 15 is the major determinant of brown and/or blue eye colour but also indicate that other loci will be involved in the broad range of hues seen in this trait in Europeans.

Link

Origins of R1a, Q and K in Scandinavia

An interesting thoughtful post from the GENEALOGY-DNA list.

Color Complex In The South Asian Diaspora

Jennifer Hochschild, a Harvard professor of government and Afro-American studies believes that skin color, rather than race, may be a better indicator of status in the United States.

In a talk May 6th 2003 at Stanford University entitled "The Politics and Morality of a Skin Tone Ordering," Hochschild's "strong" hypothesis was, in her words, that across races "the darker a person's skin color, the lower he or she is likely to be on any scale of whatever is broadly perceived to be desirable in the United States."

In other words, in America, one is still better off as a dark-skinned Hispanic than as an African American. And within these minority groups the less dark-skinned you are, the better off you are socially.

Now, according to three different studies conducted by Indian Americans in the U.S., skin color appears to have similar impact.

...

Roksana Badruddoja Rahman of Rutgers University has completed an unusually interesting research study: The role of skin color among Hindu Indian women in New Jersey and how it affects their marriage choice. Sarita Sahay has looked into self-esteem and ethnic identity including attitude towards color among South Asian Canadian female students. And Zareena Grewal at the University of Michigan has studied the impact of color in spouse selection among the South Asian American Muslim community.

...

Rahman’s conclusion is that “feelings related to beauty and attractiveness and marriage marketability are partially determined by the lightness of their skin.” And though her subjects are “Hindu Indian women” one can imagine that her findings are applicable to all women of Indian or South Asian origin.

...

Sahar, a nineteen-year-old Desi from New Jersey, bemoans the plight of the single girl deemed unattractive: “If a girl has a major flaw, she’s just stuck. It’s sad but . . . in society, if a girl is extremely overweight or extremely underweight, if she’s very, very dark complected. These are all physical things, just physical abnormalities.”

...

As another informant, Sultana, says: “Well, in [South] Asian communities, because there are so many shades, most everyone prefers light skin. And if they are dark, they have to at least be charming and pleasant looking. If they are not, then they are in big trouble. And it is much, much worse here than in India and Pakistan because over there if you are ugly . . . if you have any kind of deficiency than at least you can make it up with money. “O.K. my daughter’s not beautiful, but I can give you a house.” But here no one needs money. They all have money and so they can’t compensate deficiency with money. See, we parents are afraid [of our children marrying dark skinned mates] because, if not for this generation, then the next generation, our grandchildren. Because dark color is dominant over light color . . . and the children will carry the dark color [because it] is a dominating feature . . . and it stays over the generations.”

Link (IndoLink) [Many more interesting experiences in the link]

Immigrant South Asian Women at Greater Risk for Injury From Intimate Partner Violence

Anita Raj, PhD and Jay G. Silverman, PhD

March 2003, Vol 93, No. 3 | American Journal of Public Health 435-437

"Intimate partner violence and intimate partner violence–related homicide disproportionately affect immigrant women.1–6 South Asian women residing in the United States appear to be at particularly high risk for intimate partner violence, with 40% reporting intimate partner violence in their current relationship in a recent study.3 Other research indicates that immigration-related social isolation, often resulting from the absence of both family in the United States and community support for intimate partner violence victims, and lack of awareness of intimate partner violence services prevent battered South Asian women from seeking help.3,7–13 These findings suggest that factors related to immigration may place South Asian immigrant women at increased risk for intimate partner violence. The purpose of the current study was to assess the relations between immigration-related factors and intimate partner violence among a sample of South Asian women residing in the United States."

"Participants (N = 160) were aged 18 to 62 years (mean age = 31.6 years; SD = 9.5 years). The majority (83.1%) were Indian; the remaining 16.9% were Bangladeshi, Pakistani, Sri Lankan, or Nepalese. Half (49.4%) had postgraduate training, and 71.9% reported a family income of $2100 or more per month. The majority (74.3%) were married; 83.6% had a South Asian partner."

"Table 1 shows high prevalence of intimate partner violence (40.8%) and low awareness of intimate partner violence services (50.6%); 28.1% of this largely immigrant sample reported no family in the United States, and 10.0% indicated that they would have no social support if abused."

Non-Caucasoid Y Chromosomes in White Americans

According to [1] and see also this for haplogroup tabulation, in a sample of 202 whites, the following non-Caucasoid Y chromosomes were found:

2 N3 (Uralic)
2 O* (Mongoloid)
3 Q3* (Amerindian)

for a total of 3.5% non-Caucasoid paternal admixture.

[1] Journal of Medical Genetics 2003;40:815-819

'Papa' is the daddy of ancient language

The word "papa" may have been one of the first utterances by our distant ancestors when language first developed many thousands of years ago.

A study by two linguists searching for the origins of speech has found that the word "papa" is present in almost 700 out of 1,000 languages, which they argue is more than a coincidence.

Link (Independent)

Paleolithic Continuity Theory

The Paleolithic Continuity Theory postulates a very ancient origin of the IE language family. This theory strikes me as unrealistic [1], but a sleek new website continuitas.com advocating this theory definitely deserves a look.

[1] I prefer the Balkan, or Asia Minor/Balkan Neolithic model.

Prevalence of diego blood group Dia antigen in Mongolians: comparison with that in Japanese.

Transfus Apheresis Sci. 2004 Apr;30(2):119-24.

Komatsu F et al.

The Diego blood group is composed of Di(a) and Di(b) antigens. Prevalence of the Di(a) antigen is known to be different among races. The Di(a) antigen is generally found in Oriental people. Thus, it is called a Mongoloid factor. In Japanese, the prevalence of this antigen is 8.78%. However, the prevalence in Mongolians had not previously been examined. In September of 2002, we determined this antigen among inhabitants of Ulaanbaatar. It was found in 24 of 242 subjects (9.92%). This prevalence approximates that in Japanese. The Rh blood group phenotypes also showed patterns similar to those in Japanese. These results are not contrary to the presumption that Mongolians and Japanese may have a common racial background.

[See also: Diego(a+) in Poland, Diego Blood System]

See also Here (pdf)

"As mentioned, the Di^a antigen is well known as one of the antigens with low incidence (0.01%) among Caucasians; however, it shows a relatively higher incidence among native American Indians and Asian-Mongoloid populations, hich therefore demonstrates unique anthropologic significance (1-4)."

--

Infusionsther Transfusionsmed. 1993 Apr;20(1-2):23-5.

Sporadic occurrence of Diego A antigens and antibodies in Berlin.

Heuft HG et al.

BACKGROUND: The antigen Dia is common among Mongols (5-12%), but rare in Caucasians (< 1%). OBJECTIVE: The accidental discovery of Diego A (Dia) antibodies in a South American tourist and in an elderly German patient prompted us to investigate the frequency of Dia antigens in the German population. DESIGN: 1,352 German random blood donors, all living in Berlin or in the areas around, were tested for the presence of the Dia antigen on their red blood cells. All donors were Caucasians. RESULTS: Dia was found in 12 individuals (0.89%). CONCLUSIONS: We think that Dia is a low-frequency antigen in the European population. The admixture of Mongol genes following wars or migration is only of low or no importance.

DECONSTRUCTING THE RELATIONSHIP BETWEEN GENETICS AND RACE

A very important new review of race and genetics. This sentence is particularly noteworthy:

Frequently, it is erroneously contended that the high (85–95%) within-group variance of human populations is inconsistent with the existence of races because differences between individuals are greater than differences between groups.

Nature Reviews Genetics 5, 598-609 (2004); doi:10.1038/nrg1401

Michael Bamshad et al.

The success of many strategies for finding genetic variants that underlie complex traits depends on how genetic variation is distributed among human populations. This realization has intensified the investigation of genetic differences among groups, which are often defined by commonly used racial labels. Some scientists argue that race is an adequate proxy of ancestry, whereas others claim that race belies how genetic variation is apportioned. Resolving this controversy depends on understanding the complicated relationship between race, ancestry and the demographic history of humans. Recent discoveries are helping us to deconstruct this relationship, and provide better guidance to scientists and policy makers.

Link

50 ancient tombs uncovered

From correspondents in Athens
July 18, 2004

ARCHEOLOGISTS have discovered 50 tombs dating back to the late Minoan period, around 1400 BC, and containing a number of artifacts on the Greek island of Crete, ANA news agency reported today.

The tombs were part of the once powerful ancient city of Kydonia, which was destroyed at the time but later rebuilt.

The oldest among them contained bronze weapons, jewellery and vases and are similar to the tombs of fallen soldiers of the Mycenaean type from mainland Greece, said the head of the excavations, Maria Vlazaki.

The more recent family tombs are of a more traditional Kydonia type.

Earlier excavations in the area in northwest Crete near the town of Chania had already yielded some 100 burial sites.

Link

Presence of Tat-C in Ancient Mongolia

International Congress Series
Volume 1261 , April 2004, Pages 325-327

Does the Tat polymorphism originate in northern Mongolia?

C. Keyser-Tracqui et al.

Abstract

It has been suggested that the Y-chromosomal T→C transition arose in Mongolia ~2400–4000 years ago. To test this hypothesis, we screened 2300-year-old Mongolian male specimens and ancient Yakut male specimens for this Y-chromosomal marker. Our results demonstrate that the mutation was present in Asia 2300 years ago.

...

In the past few years, a large number of polymorphic markers have been identified on the Y chromosome. Among these is the T→C transition (locus RBF5) reported by Zerjal et al. [1] and later called the Tat-polymorphism. The C allele of this biallelic marker has so far been observed only in populations from Asia and northern Europe. It reaches its highest frequency in Yakuts, Buryats, northeastern Siberian populations and Finns (Table 1).

...

In this study, we screened ancient Mongolian samples from the Egyin Gol necropolis for the Tat marker. The Egyin Gol necropolis, located in northern Mongolia, is ~2300 years old and belongs to the Xiongnu culture [3]. In addition, we genotyped the T→C mutation in ancient Yakut specimens excavated at two sites in the Sakha Republic (Yakutia) [4].

...

All of the seven ancient Yakut individuals tested showed the C allele, confirming that the mutation occurred most probably before their migration from southern regions. Concerning the Xiongnu people, two of them harboured the mutation suggesting that the Tat polymorphism already existed in Mongolia 2300 years ago.

...

In conclusion, our study showed that the C allele was present in parent populations to the modern inhabitants of Mongolia or Yakutia, suggesting that the mutation may have arisen in Mongolia more than 2400 years ago [1]. Moreover, our work suggests that the Xiongnu tribe under study may have been composed of some of the ancestors of the present-day Yakut population.

Link

Anthropological findings on agricultural origin and dispersals into Europe

[DP: See also Spread of Farming in Europe, Farmer Husbands and Hunter Gatherer Wives, Human Domestication Reconsidered]

Four papers that expand upon the record on the origins of agriculture will appear in a supplement, guest edited by O. Bar-Yosef, Director of the Stone Age Lab at the Peabody Museum of Harvard University, to the August/November 2004 issue of Current Anthropology. Taken as a set, they demonstrate the maturation of the study of agricultural origins through fine-grained regional analyses and new methodological techniques.

Peter Rowley-Conwy in "How the West Was Lost: A Reconsideration of Agricultural Origins in Britain, Ireland, and Southern Scandinavia" shows that the data accumulated during the last 15 years in northwest Europe draws a different scenario from that commonly accepted at present. Rowley-Conwy asserts that rather than the gradual establishment of an agricultural subsistence economy in Ireland, Britain and southern Scandinavia, the process was a rapid "revolution," perhaps due to depletion of local resources or rapid environmental changes.

Natalie D. Munro's paper, "Zooarchaeological Measures of Hunting Pressure and Occupation Intensity in the Natufian Implications for Agricultural Origins," presents plausible background for a sequence of events leading to intentional cultivation, by demonstrating the depletion of animal tissue resources during the Younger Dryas (13,000-11,600 cal BP) in the southern Levant.

"Archaeobotanical Evidence for the Spread of Farming in the Eastern Mediterranean," by Sue Colledge, James Conolly, and Stephen Shennan, offers a fresh view by examining the seeds, not of cultivated plants, but of weeds, transported by early agricultural populations. They examine archaeobotanical assemblages from the Near East (including Greece), while recognizing the limitations of these datasets due to retrieval techniques and taphonomic issues, in order to define the "crop package" of Near Eastern early farmers. They discuss the evidence for a 'short or long gestation' period of the domestication process and view the archaeobotanical evidence from the Pre-Pottery Neolithic A sites along the Levantine Corridor reflecting rapid cultivation of wild cereals.

The article by Ron Pinhasi and Mark Pluciennik, "A Regional Biological Approach to the Spread of Farming in Europe: Anatolia, the Levant, Southeastern Europe, and the Mediterranean," provides another angle on population dispersals into Europe based on craniometric analyses of several Epi-Paleolithic, Mesolithic, and Neolithic samples from the Levant, Anatolia, and across Europe. Consistent with the proposal that Anatolian farmers moved relatively rapidly into Europe, the authors find clear differences between the late Upper Paleolithic and Mesolithic Europeans and those of the early Neolithic age.

Link

"Dumb blondes" live up to stereotype

[DP: Post the citation to the study in the comments if you find it; I wasn't able to track it down]

Wed 14 July, 2004 15:29

BERLIN (Reuters) - Blondes perform intelligence tests more slowly after reading jokes playing on their supposed stupidity, say psychologists in a newly published German study.

Some 80 women of various hair colours were tested on their mental capacity to work quickly and precisely in a series of psychometric tests. Before sitting the tests, half the participants had to read "dumb blonde" jokes, such as:

"Why do blondes open yoghurt pots while still at the supermarket? -- Because it says 'Open Here' on the lid."

"No blonde woman believes she is stupid," said Jens Foerster a social psychologist from the International University Bremen in northern Germany on Wednesday.

"But after exposure to negative social-stereotypes about them, the fair-haired participants performed significantly more slowly in the tests."

Foerster explained the result by saying that when people are told they can't perform a task well, they work more slowly but more cautiously, to try to make fewer mistakes.

"The study shows that even unfounded prejudices generally dismissed as untrue can affect an individual's confidence in their own ability," said Foerster.

Link

Ancient Germans weren't so fair

This news story is in relation to this paper at DNA7 conference.

This girl’s ancestors may have had darker skin that didn't burn so easily, ancient DNA suggests (Image: iStockphoto)

Researchers may be able to make more accurate reconstructions of what ancient humans looked like with the first ever use of ancient DNA to determine hair and skin colour from skeletal remains.

The research was presented today at an international ancient DNA conference in Brisbane, Australia, by German anthropologist, Dr Diane Schmidt of the University of Göttingen.

She said her research may also help to identify modern day murderers and their victims.

"Three thousand years ago, nobody was doing painting and there was no photography. We do not know what people looked like," Schmidt told ABC Science Online.

She said most images in museums and books were derived from comparisons with living people from the same regions.

"For example, when we make a reconstruction of people from Africa we think that they had dark skin or dark hair," she said. "But there's no real scientific information. It's just a guess. It's mostly imagination."

She said this had meant, for example, that the reconstruction of Neanderthals had changed over time.

"In the 1920s, the Neanderthals were reconstructed as wild people with dark hair and dumb, not really clever," she said. "Today, with the same fossil record, with the same bones and no other information - just a change in ideology - you see reconstructions of people with blue eyes and quite light skin colour, looking intelligent and using tools.

"Most of the reconstructions you see in museums are a thing of the imagination of the reconstructor. Our goal is to make this reconstruction less subjective and give them an objective basis with scientific data."

Genetic markers for hair colour

In research for her recently completed PhD, Schmidt built on research from the fields of dermatology and skin cancer that have found genetic markers for traits such as skin and hair colour in modern humans.

In particular, Schmidt relied on the fact that different mutations (known as single nucleotide polymorphisms, or SNPs) in the melanocortin receptor 1 gene are responsible for skin and hair colour.

"There is a set of SNPs that tells you that a person was a redhead and a different set of markers tell you they were fair skinned."

She extracted DNA from ancient human bones as old as 3000 years old from three different locations in Germany and looked for these SNPs.

Her findings suggest that red hair and fair skin was very uncommon among ancient Germans.

Out of a total of 26 people analysed, Schmidt found only one person with red hair and fair skin, a man from the Middle Ages. All the other people had more UV-tolerant skin that tans easily.

She said she was excited when she "coloured in" the faces that once covered the skulls, and had even developed "a kind of a personal relationship" with one of them.

"It's not so anonymous," she said. "I think this is the reason why people in museums can do reconstruction because our ancestors are not so anonymous any more; they have a face you can look into."

Unfortunately the genetic markers Schmidt used could not distinguish which of the ancient humans had blond versus black hair, and she could not determine eye colour.

But, she said she was confident that this will be possible in a few years.

Schmidt said that such research could also be used to help build up identikit pictures to help identify skeletons or criminals.

The research has been submitted for publication.

Link

Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia

Eva-Liis Loogväli et al.

MBE Advance Access published online on July 14, 2004

It has been often stated that the overall pattern of human maternal lineages in Europe is largely uniform. Yet this uniformity may also result from an insufficient depth and width of the phylogenetic analysis, in particular of the predominant western Eurasian haplogroup H that comprises nearly a half of the European mitochondrial DNA (mtDNA) pool. Making use of the coding sequence information from 267 mtDNA haplogroup (Hg) H sequences, we have analyzed 830 mtDNA genomes, from 11 European, Near and Middle Eastern, Central Asian and Altaian populations. In addition to the seven previously specified sub-haplogroups, we define fifteen novel sub-clades of Hg H present in the extant human populations of western Eurasia. The refinement of the phylogenetic resolution has allowed us to resolve a large number of homoplasies in phylogenetic trees of Hg H based on the first hypervariable segment (HVS-I) of mtDNA. As many as 50 out of 125 polymorphic positions in HVS-I were found to be mutated in more than one sub-cluster of Hg H. The phylogeographic analysis revealed that sub-Hgs H1*, H1b, H1f, H2a, H3, H6a, H6b and H8 demonstrate distinct phylogeographic patterns. The monophyletic sub-haplogroups of Hg H provide means for further progress in the understanding of the (pre)historic movements of women in Eurasia and for the understanding of the present-day genetic diversity of western Eurasians in general.

Link

HIV Resistance Mutation in the Bronze Age

Detection of the Δ32ccr5 HIV resistance gene in Bronze Age skeletons

Susanne Hummel et al.

Introduction
A mutant allele (Δ32ccr5) of the chemokine receptor CCR5 which confers resistance to HIV infection is believed to have originated from a single mutation event in historic times and expanded rapidly in Caucasian populations caused by an unknown selective advantage. In particular the Yersinia pestis bacillus is discussed as a source of strong selective pressure on European populations in medieval times. Due to the specific allele frequency gradient in Europe and STR linkage analysis the first occurrence of the mutation is dated back to approx. 700-3000 yrs ago in North Eastern Europe (Libert et al.1998, Stephens et al.1998). Our study reports amplifications of the mutant allele from four different burial sites in Germany and one in Southern Italy dating back as far as 3000 years indicating the first mutation to have happened much earlier as calculated from the modern population studies.

Material and Methods
The frequencies of the Δ32ccr5 allele were determined for 19 individuals of an Early modern times burial site in Central Germany, 19 individuals of an Early modern times burial site in Southern Italy, 14 individuals of a plague mass grave (14th century) from Northern Germany, 20 individuals of a famine mass grave (14th century) from Northern Germany, and 17 individuals of a Bronze Age burial site (900 B.C.) from Central Germany. The amplifications of the bi-allelic immunogenetic marker were carried out in multiplex PCRs which amplifies autosomal STR markers for individual specific typing simultaneously in order to ensure the authenticity of the results.

Results and Conclusions
In contrast to the current hypothesis our findings indicate that the mutation was already present in a considerable frequency (4 out of 17 individuals revealed the mutant allele) among prehistoric Europeans dating back to approx. 3000 years. Also, there is no statistically provable difference in the allele frequencies for the pre- and post plague mass graves from Lübeck (14th cent., Northern Germany) arguing against Y. pestis to have represented a strong selective force in the spread of the Δ32ccr5 mutation. Further, by comparing the findings from the German and Italian burial site from early modern times a considerable North south gradient, as revealed by modern population studies is seen.

Link

Ancient DNA and Pigmentation

A very exciting abstract from the 7th International Ancient DNA Conference.

Ancient DNA analysis for reconstruction of phenotypic traits from (pre)historic individuals.

Diane Schmidt, Susanne Hummel, Bernd Herrmann
Institute of Zoologie and Anthropology,
Department of Historical Anthropology and Human Ecology, University of Göttingen

Introduction
In our study, so-called SNPs (single nucleotide polymorphisms) are typed from (pre)historic human skeletal remains. The markers investigated here are correlated with human hair color and skin type. The investigation aims at establishing a tool for reconstructing certain aspects of the outer appearance of prehistoric humans by extracting and analyzing their ancient and degraded DNA. The analysis should be possible also for samples with strongly degraded DNA. For this purpose, a PCR based typing system was developed which enables to analyze eight single nucleotide polymorphisms located on chromosome 16 and 20 by generating short PCR products of less than 100 basepairs.

Materials and Methods
The analysis system was successfully applied to archaeological skeletal remains from a bronze age cave (Lichtenstein, approximately 900 B.C.), an early modern burial site (Goslar, approximately 1850 A.D.) and a medieval gravesite (Enger, approximately 900 A.D.) to determine hair colors and skin types from people of prehistoric times to reconstruct their physical appearance. To be able to draw conclusions about the individual's phenotype from the genetic data obtained, the data had to be compared to datasets from present-day populations. Since from modern studies no datasets for people from Central Europe were available, an investigation through cooperation with the Department of Dermatology to generate such data was carried out previous to the analysis of the archaeological samples.
The SNP typing system consisted of two quadruplex-PCRs for amplifying seven loci at the MC1R gene (encoding for melanocortin receptor 1) and one position at the ASIP (encoding for agouti signal protein). Subsequently, a single base extension reaction and fragment length analysis were carried out to detect potential polymorphisms.

Results and Discussion
The analysis of the present-day control sample revealed strong correlation between certain mutations an the MC1R gene and the red hair/fair skin phenotype. Individuals exhibiting these phenotypic traits can be distinguished from other phenotypes by typing the SNPs used for this investigation. The typing of the archaeological samples proved the suitability of the analysis system for degraded DNA. It was possible to successfully type seven individuals from the Bronze Age Lichtenstein cave and three individuals from the early modern site in Goslar, who could all be classified as persons with dark or blond hair and a skin that was not UV-sensitive. Out of the five individuals from the medieval collegiate church in Enger typed with the newly developed PCR system, one person can be characterized as having been red haired and fair skinned, the other individuals had dark or blond hair and a less UV-sensitive skin.

Scientists reopen the Romanov mystery

An American team challenges DNA-based British research that bodies in a mass grave are the tsar's family, writes Roger Highfield

The fate of the Russian royal family was plunged into renewed controversy yesterday after scientists cast doubt over British DNA tests on bones recovered from a mass grave.

One of the most riveting detective stories of the last century supposedly ended in 1998, when the Russian government formally declared that the bones were those of the Romanovs, who were executed by the Bolsheviks in 1918.

But in a paper for the seventh International Ancient DNA Conference in Brisbane, a team from Stanford University near San Francisco will this week question tests by Home Office forensic scientists.

Link (Telegraph)

Blog Rules Reminder

Readers are reminded to check out the Blog Rules on the right. This is the place for dissemination of information, and comments should be civil and relevant to the topic of blog entries under which they are posted. You are also invited to use the Discussion Forum, also on the right for any topics that are more general in scope.

Y-Haplogroups information page

Very interesting resource at worldfamilies.net.

Non-Caucasoid Y chromosomes in Ashkenazi Jews

According to the [1], Ashkenazi Jews have the following non-Caucasoid Y-haplogroups.

3 E*(xE3b) African
1 N Asian
23 Q Asian

Total: 27 out of 442 (6.1%)

[1] Hum Genet (2004) 114 : 354–365

Non-Caucasoid Y chromosomes in Ashkenazi Levites

According to the [1], Ashkenazi Levites have the following non-Caucasoid Y-haplogroups.

1 DE(xE3) uncertain
1 N*(xN3) Asian
1 Q Asian

Total: 3 out of 60 (5%)

[1] Am. J. Hum. Genet., 73:768-779, 2003

Non-Caucasoid mtDNA admixture in Ashkenazi Jews

According to the supplementary data of [1], Ashkenazi Jews have the following non-Caucasoid mtDNA haplogroups.

1 A (0.2%) Asian
4 M* (0.7%) Asian
6 M1 (1.1%) Asian or E. African
10 L2a (1.8%) African

Total: 21 (3.7%)

[1] Eur J Hum Genet 12(5): 355-364

K2 represents another migration into Africa

In addition to the ancient back-migration bringing R1*-M173 and mtDNA haplogroups U6 and H into Africa, there appears to be another event during the Paleolithic which brought Eurasians into Africa.

Am. J. Hum. Genet., 74:532-544, 2004

"K2-M70 is believed to have originated in Asia after the emergence of the K-M9 polymorphism (45–30 ky) (Underhill et al. 2001a). As deduced from the collective data (Underhill et al. 2000; Cruciani et al. 2002; Semino et al. 2002; present study), K2-M70 individuals, at some later point, proceeded south to Africa. These chromosomes are seen in relatively high frequencies in Egypt, Oman, Tanzania, Ethiopia, and Morocco and are especially prominent in the Fulbe (18% [Scozzari et al. 1997, 1999]), the highest concentration of this haplogroup found so far."

The puzzle of the formation of modern African diversity is far from solved, including the million-dollar question of the origin and dispersal of the classical Negroids.

A relevant post on the Fulani by David B.

Origin of Yanbulaq Inhabitants

See also A craniometric investigation of the Bronze Age settlement of Xinjiang and Genes, language, and culture: an example from the tarim basin.

AAPA 2004

East of Eden, west of Cathay: An investigation of Bronze Age interactions along the Great Silk Road.

B.E. Hemphill.

The Great Silk Road has long been known as a conduit for contacts between East and West. Until recently, these interactions were believed to date no earlier than the second century B.C. However, recent discoveries in the Tarim Basin of Xinjiang (western China) suggest that initial contact may have occurred during the first half of the second millennium B.C. The site of Yanbulaq has been offered as empirical evidence for direct physical contact between Eastern and Western populations, due to architectural, agricultural, and metallurgical practices like those from the West, ceramic vessels like those from the East, and human remains identified as encompassing both Europoid and Mongoloid physical types.

Eight cranial measurements from 30 Aeneolithic, Bronze Age, Iron Age and modern samples, encompassing 1505 adults from the Russian steppe, China, Central Asia, Iran, Tibet, Nepal and the Indus Valley were compared to test whether those inhabitants of Yanbulaq identified as Europoid and Mongoloid exhibit closest phenetic affinities to Russian steppe and Chinese samples, respectively. Differences between samples were compared with Mahalanobis generalized distance (d2), and patterns of phenetic affinity were assessed with cluster analysis, multidimensional scaling, and principal coordinates analysis.

Results indicate that, despite identification as Europoid and Mongoloid, inhabitants of Yanbulaq exhibit closest affinities to one another. No one recovered from Yanbulaq exhibits affinity to Russian steppe samples. Rather, the people of Yanbulaq possess closest affinities to other Bronze Age Tarim Basin dwellers, intermediate affinities to residents of the Indus Valley, and only distant affinities to Chinese and Tibetan samples.

Allele frequencies in candidate genes for osteoporosis and obesity

ASHG 2003 Poster #1189

Allele frequencies of 41 SNPs in 10 candidate genes for osteoporosis and obesity in a large Caucasian sample and comparison with the data from public databases and other studies.

V. Dvornyk et al.

SNPs have become increasingly used in gene identification studies for complex traits. However, accuracy and suitability of SNP data for studies of some complex disorders, such as osteoporosis and obesity, have often not been validated. We analyzed allele frequencies of 41 SNPs of ten candidate genes for osteoporosis and/or obesity in a large US Caucasian sample (1,873 individuals of both genders) by PCR-invader assay and maximum likelihood method. Out of 41 SNPs studied, 13 were firstly reported for Caucasians and eight of them were monomorphic. A comparison of the other 28 SNP allele frequencies of the studied Caucasian population with the respective data for Caucasians from the literature and public databases revealed significant difference for six SNP markers. Further comparison of our data with other ethnic groups confirmed the commonly observed differences in SNP allele frequencies for the three major world ethnic groups: 3 of 19 loci differed significantly in Caucasians vs Africans, and so do 13 of 24 loci in Caucasians vs Asians. Significant differences in allele frequencies of three polymorphisms (out of five compared) were also observed between Caucasian and Pacific Rim samples. The results of this extensive study essentially confirmed the previously reported data on the SNPs for Caucasians, and suggested several new candidate SNPs for studying osteoporosis and obesity. The observed significant differences in allele frequencies of some SNPs in Caucasians may be due to population admixture and/or insufficient sample size in the other studies. Our results also showed that major ethnic groups are indeed highly differentiated at some SNP markers of a number of important genes, which may be associated with osteoporosis and/or obesity. This differentiation may underlie different rates of these disorders in the major ethnic groups.

Y-Haplogroups in American Whites and Blacks

ASHG 2003, Poster #1594

Determination of Y-Haplogroups Utilizing Suspension Arrays.

D. Carlson et al.

The purpose of this study was to develop a method for rapid determination of Y-haplogroup of DNA samples. Forty-twoY-chromosome single nucleotide polymorphisms (SNPs) were selected based on their association with a particular ancestral haplogroup. Each polymorphic region was amplified in a multiplexed PCR reaction utilizing primers labeled with a fluorescent reporter dye. Oligonucleotides specific for each allele in the multiplex were immobilized on the surface of latex microspheres containing fluorescent identifiers. Labeled PCR products were then hybridized to the microspheres in multiplexed mode. Reporter dyes and identifier dyes were read simultaneously for each microsphere in a flow analyzer. Allele-calling software (MasterPlexGT, MiraiBio) automated the genotyping. The flow reader required 1.5 hr to analyze 96 wells of multiplexed reactions. The most frequent Y-haplogroups were found to be E1a for African Americans and R1b for U.S. Caucasians. The percentage of admixture of Caucasian Y-haplogroups in the African American samples was slightly more than 30%. Frequency of African markers in the Caucasian samples was less than 5%.

West African Guinean mtDNA

Annals of Human Genetics
Volume 68 Issue 4 Page 340 - July 2004

MtDNA Profile of West Africa Guineans: Towards a Better Understanding of the Senegambia Region

Alexandra Rosa et al.

Summary

The matrilineal genetic composition of 372 samples from the Republic of Guiné-Bissau (West African coast) was studied using RFLPs and partial sequencing of the mtDNA control and coding region. The majority of the mtDNA lineages of Guineans (94%) belong to West African specific sub-clusters of L0-L3 haplogroups. A new L3 sub-cluster (L3h) that is found in both eastern and western Africa is present at moderately low frequencies in Guinean populations. A non-random distribution of haplogroups U5 in the Fula group, the U6 among the "Brame" linguistic family and M1 in the Balanta-Djola group, suggests a correlation between the genetic and linguistic affiliation of Guinean populations. The presence of M1 in Balanta populations supports the earlier suggestion of their Sudanese origin. Haplogroups U5 and U6, on the other hand, were found to be restricted to populations that are thought to represent the descendants of a southern expansion of Berbers. Particular haplotypes, found almost exclusively in East-African populations, were found in some ethnic groups with an oral tradition claiming Sudanese origin.

A possible ancient migration from Asia to Africa was proposed by Cruciani et al. (2002) to explain the presence of some unusual Y-chromosome lineages identified in West Africa. Haplogroup R1 (defined by M173 mutation), without further branch defining mutations (M269 and M17) specific to Europeans, accounted for ~40% of the Y-chromosomes in North-Cameroon, while not yet having been sampled elsewhere in Africa. More data from Central and Western Africa are needed to cast light on the origin of such idiosyncratic mtDNA and Y chromosome lineages. Thus, our U5 sequences from the Guinean Fulbe people corroborate Cruciani's hypothesis of a prehistoric migration from Eurasia to West Sub-Saharan Africa, testified by their present day restricted and localised distribution.

Link

Caucasoid Component in Several Populations

According to the supplementary information for Genetic Structure of Human Populations, the combined membership coefficients for the two Caucasoid clusters (general+Kalash) are the following (only pred. Caucasoid populations listed, and major non-Caucasoid component, defined as exceeding 0.05, listed in parentheses):

Tuscan 1.00
Orcadian 0.99
Basque 0.99
Sardinian 0.99
Druze 0.99
Kalash 0.99
French 0.98
Italian 0.98
Adygei 0.96
Palestinian 0.96
Russian 0.94
Balochi 0.94
Bedouin 0.93 (+0.06 Negroid)
Brahui 0.93
Makrani 0.89 (+0.05 Negroid)
Sindhi 0.88 (+0.06 Mongoloid)
Pathan 0.87 (+0.09 Mongoloid)
Burusho 0.79 (+0.17 Mongoloid)
Mozabite 0.76 (+0.23 Negroid)
Hazara 0.53 (+0.45 Mongoloid)
Uigur 0.46 (+0.53 Mongoloid)

(total Europe) 0.98
(total Middle East) 0.93 (+0.06 Negroid)
(total C/S Asia) 0.84 (+0.13 Mongoloid)

PS: Of course the authors do not use "racial" terminology.

Negroid

About a year ago, I'd posted a couple of illustrations of the Caucasoid and Mongoloid faces, so here is an example of the Negroid face. [Flip 11 and 12]

Haplogroup Ages

This post will be devoted to information about the ages of human Y chromosome haplogroups and subhaplogroups. Likely origin in [].

Am. J. Hum. Genet., 75:128-137, 2004:

I* 24 ± 7.1 ky [Gravettians]
I1a 8.8 ± 3.2 ky [Franco-Cantabria]
I1b* 7.6 ± 2.7 ky [Balkans]
I1b2 8 ± 4 ky [Iberia/S France]
I1c 13.2 ± 2.7 ky [same as I1a?]

Am. J. Hum. Genet., 74:1014-1022, 2004:

E3b 25.6 (95%: 24.3-27.4) ky [eastern Africa]
E-M78 23.2 (95%: 21.1–25.4) ky [eastern Africa]
E-M78α 7.8 (95%: 6.3–9.2) ky [Europe]
E-M78β 5.2 (95%: 3.2–7.5) ky [NW Africa]
E-M78γ 9.6 (95%: 7.2–12.9) ky [eastern Africa]
E-M78δ 14.7 ± 2.7 ky [eastern Africa]
E-M81 5.6 (95%: 4.6–6.3) ky [N Africa]
E-M34 [Near East]

1,900-year-old Caucasoids in China

XINING, July 6 (Xinhuanet) -- Archeologists confirmed that the human skeletons discovered this May in northwest China's Qinghai Province belonged to three Europeans who lived in China over 1,900 years ago.

"The physical characteristics of the bones showed it is a typical European race," said Wang Minghui, an expert with the archeological institute under the Chinese Academy of Social Sciences.

The skeletons were spotted at Zhongchuan Town of the province's eastern most Minhe Hui and Tu Autonomous County.

Since 2002, archeologists have unearthed nine tombs of Han Dynasty (206 BC-220 AD) at a construction site of a brickfield in the town, but it was not until this May that they felt the skeletons in two tombs "very special", said Ren Xiaoyan, deputy director if the provincial archeological institute, who added they invited Wang, who specializes in human bone identification, to take part in the study on the findings.

Qinghai is on the southern section of the world-known land trade corridor -- the Silk Road, linking China with Central and Western Asia and to the eastern shores of the Mediterranean begins in the country's northwest and runs 7,000 kilometers.

Serving as an important bridge for the economic and cultural exchanges between the East and the West, the area, which the Silk Road covered in China, used to see throngs of Indian, Persian, Arabic, Greek and Roman people.

Ren said the tomb shape, the burial articles and the way they were put in the tomb are all typical in Eastern Han Dynasty (25-220), which proved the three westerners had lived here for a long time and were accustomed to local traditions and customs.

"Although so far, we have been not sure of the country the three Europeans came from and there might be a large number of such 'westerners' living here at the ancient time," said Ren.

Such European skeletons have only been revealed in northwest China's Xinjiang Uygur Autonomous Region, a neighboring region which is to the northwest of Qinghai, so the discovery this time is of great importance for the study of the ancient society in Qinghai, said Wang.

Link

The Evolution of Human Skin and Skin Color

Annual Review of Anthropology
(doi:10.1146/annurev.anthro.33.070203.143955)
First posted online on June 21, 2004

Nina G. Jablonski

Abstract Humans skin is the most visible aspect of the human phenotype. It is distinguished mainly by its naked appearance, greatly enhanced abilities to dissipate body heat through sweating, and the great range of genetically determined skin colors present within a single species. Many aspects of the evolution of human skin and skin color can be reconstructed using comparative anatomy, physiology, and genomics. Enhancement of thermal sweating was a key innovation in human evolution that allowed maintenance of homeostasis (including constant brain temperature) during sustained physical activity in hot environments. Dark skin evolved pari passu with the loss of body hair and was the original state for the genus Homo. Melanin pigmentation is adaptive and has been maintained by natural selection. Because of its evolutionary lability, skin color phenotype is useless as a unique marker of genetic identity. In recent prehistory, humans became adept at protecting themselves from the environment through clothing and shelter, thus reducing the scope for the action of natural selection on human skin.

Link

Unexpectedly recent dates for human remains from Vogelherd

A new study in Nature removes the last remaining link between the Upper Paleolithic Aurignacian technologies and modern humans. There is thus currently no evidence for the co-existence of UP humans and Aurignacian technologies at any sites. The authors conclude that while there is still evidence for the existence of modern humans in Europe during Aurignacian times, there is no longer any evidence for the idea that modern humans produced the Aurignacian, suggesting that this could just as easily have been produced by the indigenous Neandertals.

Unexpectedly recent dates for human remains from Vogelherd

Nature 430, 198 - 201 (08 July 2004)

NICHOLAS J. CONARD et al.

The human skeletal remains from the Vogelherd cave in the Swabian Jura of southwestern Germany are at present seen as the best evidence that modern humans produced the artefacts of the early Aurignacian1. Radiocarbon measurements from all the key fossils from Vogelherd show that these human remains actually date to the late Neolithic, between 3,900 and 5,000 radiocarbon years before present (BP). Although many questions remain unresolved, these results weaken the arguments for the Danube Corridor hypothesis2—that there was an early migration of modern humans into the Upper Danube drainage—and strengthen the view that Neanderthals may have contributed significantly to the development of Upper Palaeolithic cultural traits independent of the arrival of modern humans3, 4.

Link

Old People May Hold Key to Human Success

Tue 6 July, 2004 10:11

By Maggie Fox, Health and Science Correspondent

WASHINGTON (Reuters) - Old people may hold the key to human civilization, U.S. researchers said on Tuesday.

They found evidence that, around 30,000 years ago, many more people started living into old age, in turn fueling a population explosion.

Rachel Caspari of the University of Michigan and Sang-Hee Lee of the University of California at Riverside believe that groups in which old people survived better were more successful, in turn allowing more people to live into old age.

"There has been a lot of speculation about what gave modern humans their evolutionary advantage. This research provides a simple explanation for which there is now concrete evidence -- modern humans were older and wiser," Caspari said.

"We think with increases in longevity two things happened to increase survivorship," Caspari, an anthropologist specializing in evolution, added in a telephone interview.

"First, individual people have more kids because if you live longer you can continue to have kids after your kids have kids. And second, you can contribute to your extended family and increase the survival of your progeny. This can increase population size, and it can happen quite quickly."

The finding, published in this week's issue of the Proceedings of the National Academy of Sciences, supports the so-called "grandma hypothesis," Caspari said.

This credits grandmothers with helping to raise their extended families, contributing to a group's success.

Caspari and Lee studied 768 different human fossils, including examples of Cro-Magnon, which are early Homo sapiens who lived in Europe, Neanderthals, an earlier type of Homo sapiens that died out about 35,000 years ago, and earlier prehumans such as Homo erectus and australopithecenes, which date back as long ago as 3 million years.

JUMP IN LONGEVITY

"What we looked at is differences in the proportion of people who were living to be older," Caspari said. Some individuals may have lived to great age, but at some point humans as a species began living longer on average than other primates and Caspari and Lee wanted to find out when and why.

They divided the fossils into two groups -- adults of reproductive age, which they settled on as 15 years, and adults that lived to be twice as old, 30, based on tooth wear.

In primitive societies, people are often grandparents at 30, Caspari pointed out.

"We found this proportion of older to young adults in the fossil record increased over time," Caspari said.

"In the Upper Paleolithic that proportion just skyrocketed. It was just unbelievable. It increased five-fold. We didn't expect that."

Caspari and Lee rechecked their numbers and analysis.

"But then we started to think about it and thought we really shouldn't be surprised, because there is a behavioral change that took place over time at the same time," Caspari said.

"You start to see a change in symbolic behavior. You see art. You see a large number of people being buried with jewelry, with body ornaments."

Perhaps around this time people started to value and take care of the weak and the old, and in turn benefited from their help and experience, Caspari sad.

This could be when the uniquely human condition of menopause evolved and started to have an effect, Caspari said. Women not burdened by childbearing could focus on their grandchildren and other kin.

"We live in a society that is so geared toward younger people. It is nice to realize that it might be older people that make us human after all," Caspari said.

Link (Reuters)

Farming origins gain 10,000 years

Humans made their first tentative steps towards farming 23,000 years ago, much earlier than previously thought.

Link (BBC)

Discrimination between European-American and African-American children based on deciduous dental metrics and morphology

American Journal of Physical Anthropology (early view)

Loren R. Lease et al.

Abstract

This study employs metric and morphological features of the deciduous dentition for discriminating between European-American and African-American children and providing allocation rules (regression equations). Five logistic regression equations are presented, with the percentage of correct allocation to group of between 90.1-92.6%. All five equations employ three metric traits (the mesiodistal diameters of the mandibular deciduous canines and anterior and posterior deciduous premolars) and one morphological feature (cusp number of the maxillary deciduous anterior premolar). In addition to these four variables, only two or three additional morphological features are added in carious combinations in the final equations. Correct allocation to group is 4-12% greater when combining metric and morphological features compared to using the features separately.

Link

Victory

Link (Kathimerini)

Directional migration in the Hindu castes

Human Genetics (to appear)

Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data

Stephen Wooding et al.

Abstract Genetic, ethnographic, and historical evidence suggests that the Hindu castes have been highly endogamous for several thousand years and that, when movement between castes does occur, it typically consists of females joining castes of higher social status. However, little is known about migration rates in these populations or the extent to which migration occurs between caste groups of low, middle, and high social status. To investigate these aspects of migration, we analyzed the largest collection of genetic markers collected to date in Hindu caste populations. These data included 45 newly typed autosomal short tandem repeat polymorphisms (STRPs), 411 bp of mitochondrial DNA sequence, and 43 Y-chromosomal single-nucleotide polymorphisms that were assayed in more than 200 individuals of known caste status sampled in Andrah Pradesh, in South India. Application of recently developed likelihood-based analyses to this dataset enabled us to obtain genetically derived estimates of intercaste migration rates. STRPs indicated migration rates of 1–2% per generation between high-, middle-, and low-status caste groups. We also found support for the hypothesis that rates of gene flow differ between maternally and paternally inherited genes. Migration rates were substantially higher in maternally than in paternally inherited markers. In addition, while prevailing patterns of migration involved movement between castes of similar rank, paternally inherited markers in the low-status castes were most likely to move into high-status castes. Our findings support earlier evidence that the caste system has been a significant, long-term source of population structuring in South Indian Hindu populations, and that patterns of migration differ between males and females.

Link

Analysis of the DRD4 Gene Polymorphism in Populations of Russia and Neighboring Countries

Russian Journal of Genetics
40 (6): 679-683, June 2004

S. A. Borinskaya et al.

Abstract

Allele and genotype frequencies of the VNTR polymorphism in the third exon of human DRD4 gene were determined in 544 individuals living in Russia (Russians, Bashkirs, Tatars, and Mordovians) and in the neighboring countries (Kazakhs and Ukrainians). The data obtained were compared with the allele frequency distribution patterns reported for the populations of Eurasia. Similarly to other Eurasian populations, in our population samples R4 allele was prevalent (64 to 87%). The frequency of this allele in the populations of Western Europe constitute 61 to 71%, while in the populations of Asia it varies from 74 to 96%. In this respect, the populations studied occupied the intermediate position. In the samples examined the R7 allele frequency decreased from 7% in Ukrainians to 1% in Bashkirs, while in Kazakhs and Mordovians the allele was absent. This finding was consistent with the R7 allele distribution pattern in the populations of Eurasia, characterized by higher frequency in the West and lower frequency or absence of the allele in the East. In the group of 22 Eurasian populations, the R7 allele frequency negatively correlated with the frequency of the R4 allele (r = –0.86 at P < 0.001). Unlike the R4 and R7 alleles, the frequency of which changed in the eastward direction, the R2 allele frequency distribution displayed slightly expressed latitudinal increase southwards. The DRD4 genotype distribution deviated from the equilibrium in most of the samples examined. In some samples, statistically significant increase of the R2/R2 homozygotes frequency was demonstrated. One of the possible explanations of this phenomenon is assortative mating with respect to phenotypic (behavioral) allele manifestation. The data obtained can serve as the basis for the investigation of the possible role of the DRD4 alleles as the risk factors for the development of alcoholism and other types of addictions.

Link

Worldwide Y SNP Test

Trace Genetics offers a Y chromosome SNP test for haplogroup determination for $200. They also offer a "Finer Resolution" SNP test where you can test for additional markers within a haplogroup. You can check the Y chromosome nomenclature to see which lineages are defined by the SNPs they test.

"The human population consists of approximately 18 major paternal lineages (haplogroups). This test identifies the major human paternal lineage to which you belong and the geographic regions associated with this lineage through the analysis of SNPs and bi-allelic markers on the non-recombining portion of the Y-chromosome. The lineages are defined by the Y Chromosome Consortium 2002."

"A subset of these markers will be analyzed
for the Worldwide Y SNP test.

M2, M3, M9, M26, M45, M89, M94, M96, M130,
M153, M172, M173, M175, M242, P2, P19,
P25, TAT, YAP"