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Racial Admixture in various European Populations
BabylonianJew:
Greeks have Negroid admixture and Mongoliod(Turks): SAHARAN GENES IN GREECE
The first major study of gene frequencies in Greece, Macedonia and Crete was completed in December 2000, titled "HLA genes in Macedonians and the sub-Saharan origin of the Greeks",and published by the journal "Tissue Antigens" that year.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11260506&dopt=Abstract
Tissue Antigens February 2001, vol. 57, no. 2, pp. 118-127
HLA genes in Macedonians and the sub-Saharan origin of the Greeks
A. Arnaiz-Villena; K. Dimitroski; A. Pacho; J. Moscoso; E. Go´mez-Casado; C. Silvera-Redondo; P. Varela; M. Blagoevska; V. Zdravkovska; J. Martý´nez-Laso
Department of Immunology and Molecular Biology, H. 12 de Octubre, Universidad Complutense, Madrid, Spain.
HLA alleles have been determined in individuals from the Republic of Macedonia by DNA typing and sequencing. HLA-A, -B, -DR, -DQ allele frequencies and extended haplotypes have been for the first time determined and the results compared to those of other Mediterraneans, particularly with their neighbouring Greeks. Genetic distances, neighbor-joining dendrograms and correspondence analysis have been performed. The following conclusions have been reached: 1) Macedonians belong to the "older" Mediterranean substratum, like Iberians (including Basques), North Africans, Italians, French, Cretans, Jews, Lebanese, Turks (Anatolians), Armenians and Iranians, 2) Macedonians are not related with geographically close Greeks, who do not belong to the "older" Mediterranenan substratum, 3) Greeks are found to have a substantial relatedness to sub-Saharan (Ethiopian) people, which separate them from other Mediterranean groups. Both Greeks and Ethiopians share quasi-specific DRB1 alleles, such as *0305, *0307, *0411, *0413, *0416, *0417, *0420, *1110, *1112, *1304 and *1310. Genetic distances are closer between Greeks and Ethiopian/sub-Saharan groups than to any other Mediterranean group and finally Greeks cluster with Ethiopians/sub-Saharans in both neighbour joining dendrograms and correspondence analyses. The time period when these relationships might have occurred was ancient but uncertain and might be related to the displacement of Egyptian-Ethiopian people living in pharaonic Egypt.
Fig. 2. Correspondence analysis showing a global view of the relationship between Mediterraneans and sub-Saharan and Black African populations according to the HLA allele frequencies in three dimensions (bidimensional representation). HLA-DRBI allele frequencies data.
Fig. 3. Correspondence analysis showing a global view of the relationship among West Mediterraneans (green), East Mediterraneans (orange), Greeks and sub-Saharan populations (red) and Blacks (grey) according to HLA allele frequencies in three dimensions (bidimensional representation). HLA-DR and DQ (low resolution) allele frequencies data.
Table 5 shows the presence of these Greek alleles mainly in sub-Saharan populations from Ethiopia (Amhara, Oromo), Sudan (Nuba) and West Africa (Rimaibe, Fulani, Mossi).
It may be deduced from these data that sub-Saharans and Greeks share quasi-specific HLA-DRB1 alleles. The neighbor-joining tree (Fig. 1) and the correspondence analyses (Figs 2 and 3) confirm this Greek/sub-Saharan relatedness. The HLA-DRB1 genetic distances between Greeks and other Mediterraneans are shown in Table 6 and also support a sub-Saharan/Greek relatedness; genetic distances with HLA-DR and -DQ generic typings (not shown) give essentially the same results.
Our results show that Macedonians are related to other Mediterraneans and do not show a close relationship with Greeks; however they do with Cretans (Tables 3, 4, Figs 1–3). This supports the theory that Macedonians are one of the most ancient peoples existing in the Balkan peninsula, probably long before arrival of the Mycaenian Greeks (10) about 2000 B.C. Other possible explanation is that they might have shared a genetic background with the Greeks before an hypothetical admixture between Greeks and sub-Saharans might have occurred.
Much to our surprise, the reason why Greeks did not show a close relatedness with all the other Mediterraneans analyzed (Tables 5, 6 and Figs 1–3) was their genetic relationship with sub-Saharan ethnic groups now residing in Ethiopia, Sudan and West Africa (Burkina-Fasso). Although some Greek DRB1 alleles are not completely specific of the Greek/sub-Saharan sharing, the list of alleles (Table 5) is self-explanatory. The conclusion is that part of the Greek genetic pool may be sub-Saharan and that the admixture has occurred at an uncertain but ancient time.
Thus, it is hypothesized that there could have been a migration from southern Sahara which mixed with ancient Greeks to give rise to a part of the present day Greek genetic background. The admixture must have occurred in the Aegean Islands and Athens area at least.
Also, the time when admixture occurred could be after the overthrown of some of the Negroid Egyptian dynasties (Nubian or from other periods) or after undetermined natural catastrophes (i.e.: dryness).
(Full text in PDF format available here.)
(A study of how HLA Alleles are race specific can be found here)
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MONGOLOID MARKER IN GREECE
A recent study of mtDNA in Greece revealed the presence of the HpaI morph 1 sequence, which is a Mongoloid marker, introduced either through slavery or the mixed race Ottoman occupation.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7916320&dopt=Abstract
1: Hum Biol. 1994 Aug;66(4):601-11.
Mitochondrial DNA polymorphism in northern Greece.
Astrinidis A, Kouvatsi A.
Department of Genetics, Development, and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Greece.
The polymorphism of human mitochondrial DNA (mtDNA) was studied in 118 unrelated Greeks (from northern Greece) using total blood cell DNA and the restriction enzymes HpaI, BamHI, HaeII, MspI, AvaII, and HincII. One new morph was identified for MspI (named MspI morph 18Gr) and is the result of a mutation in a previously thought monomorphic site at 104 bp. HpaI morph 1 was detected for the first time in a European sample. Also, AvaII morph 13 was observed in Greece in a frequency higher (5.93%) than that found in any other population. Eighteen mtDNA types were identified, three of which are new [86-2 (1-3-1-4-9-2), 87-2 (2-3-1-1-13-2), and 88-2 (2-1-1-18Gr-1-2)] and can be derived from already known mtDNA types by single restriction site changes. Type 57-2 (2-3-1-4-13-2), which had been previously characterized as "Italian," was found with higher frequency (4.24%) in northern Greece. The calculation of genetic distances and chi-square values through Monte Carlo simulation shows that the Greek sample does not differ from the Italian sample.
PMID: 7916320 [PubMed - indexed for MEDLINE]
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AFRICAN BLOOD GROUPS IN GREECE
"As usual in the Mediterranean area CDe is high, and cDe, presumably from African admixture, reaches about 6 per cent." (p73)
Cyprus: ". . . the presence of over 5 per cent cDe suggests African immigration." (p73)
Source: Mourant AE, Kopéc AC, Domaniewska-Sobczak K. The distribution of the human blood groups and other polymorphisms. London, Oxford University Press, 1976.
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28% MIDDLE EASTERN HAPLOGROUP HG9 IN GREECE
According to a study conducted by Lluís Quintana-Murci et. al.. and published in The American Journal of Human Genetics, (Volume 68, 2001, pages 537-542), the Middle Easter Haplogproup HG9 runs at 28% in Greece.
http://www.journals.uchicago.edu/AJHG/journal/issues/v68n2/002418/002418.html
Am. J. Hum. Genet., 68:537-542, 2001
Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia
Lluís Quintana-Murci,1 Csilla Krausz,1 Tatiana Zerjal,2 S. Hamid Sayar,3 Michael F. Hammer,4 S. Qasim Mehdi,5 Qasim Ayub,5 Raheel Qamar,5 Aisha Mohyuddin,5 Uppala Radhakrishna,6 Mark A. Jobling,7 Chris Tyler-Smith,2 and Ken McElreavey1
. . .
HG 9, defined by the 12f2 deletion, is largely confined to caucasoid populations, with its highest frequencies being found in Middle Eastern populations.
In Iranian populations, HG 9 shows very high frequencies (30%60%). Populations from the southeastern Caspian region and the Zagros Mountains exhibit the highest frequencies so far observed (60%). High frequencies of HG 9 have been found throughout the Fertile Crescent region (Hammer et al. 2000): Palestinians, 51%; Lebanese, 46%; and Syrians, 57%. The incidences of HG 9 in Pakistan (18%) and northern India (19%) indicate a decreasing-frequency cline from Iran toward India.
Table 1
Frequency Distribution of HG 9 and HG 3 in Human Populations from Different Regions
REGIONa N FREQUENCYb
(%) SOURCE
HG 9 HG 3
Iran:c
Azarbaijan 83 34 17 Present study
Zagros Mountains 34 59 6 Present study
Western Caspian 32 53 3 Present study
Eastern Caspian 25 56 20 Present study
Tehran region 50 30 14 Present study
Central-north 79 39 9 Present study
Central-south 72 38 17 Present study
Eastern provinces 26 35 31 Present study
Pakistan 708 18 32 Present study
India:
Gujurat 58 19 26 Present study
Jaunpur 152 NT 20 Zerjal et al. (1999)
Indians mixed 72 NT 15 Hammer et al. (1998)
Uttar Pradesh 62 7 NT Semino et al. (1996)
Sri Lanka 83 NT 15 Hammer et al. (1998)
Middle East:
Lebanon 24 46 4 Hammer et al. (2000)
Syria 91 57 9 Hammer et al. (2000)
Palestine 73 51 0 Hammer et al. (2000)
Europe:
Turkey 167 33 5 Rosser et al. (2000)
Russia 122 4 47 Rosser et al. (2000)
Ukraine 27 0 30 Rosser et al. (2000)
Latvia 34 0 41 Rosser et al. (2000)
Poland 112 4 54 Rosser et al. (2000)
Greece 36 28 8 Rosser et al. (2000)
Italy 99 20 2 Rosser et al. (2000)
Spain 126 3 2 Rosser et al. (2000)
Africa:
Algeria 27 41 0 Rosser et al. (2000)
Sub-Saharan Africa 199 1 0 Hammer et al. (2000)
BabylonianJew:
The Anglo-Saxons have Indian(India) blood: RACIAL MIXING BROUGHT THE HEMOGLOBIN D DISORDER TO BRITAIN AND IRELAND
Hemoglobin D is a genetically transmitted blood disorder which originated on the Indian sub-continent, and which spread to England, Scotland and Ireland during the colonial period when many soldiers – Englishmen, Scots and Irishmen – took Indian wives back to their homelands.
It is worthwhile to review the hemoglobin D case study because it proves two things:
- Firstly, that genetically inherited conditions, such as sickle cell and hemoglobin D, are transmitted directly by racial mixing; and
-Secondly, to show that it is not just southern Europe that has been affected by racial mixing during the course of history, but that northern European lands have also fallen prey to this phenomenon, albeit in smaller overall numbers.
HEMOGLOBIN TYPE IS INHERITED
“HEMOGLOBIN is the oxygen transporting substance found in the red blood cells. There are hundreds of different hemoglobin variants identified in all races and populations of people. The kind of hemoglobin we have depends upon our genetic inheritance. Genes are units of inheritance passed on from our parents. These messengers determine characteristics such as eye and hair color, and they also determine hemoglobin type.” - The Virginia Sickle Cell Awareness Program (VASCAP), http://views.vcu.edu/pediatrics/vascap/fast_facts/HemoD.PDF
“Most people have the type of hemoglobin called hemoglobin A (also called normal or adult hemoglobin). However there are many different types of hemoglobin found in people throughout the world. Hemoglobin D is one type; sickle hemoglobin is another type.”- University of Rochester Medical Center, Division of Genetics, http://www.urmc.rochester.edu/genetics/brochures/pdf/hbdbro1.pdf
COMPLICATIONS ARISING FROM HEMOGLOBIN D
Carriers of hemoglobin D are at little risk themselves, but if they should have children with other carriers, there is a 25 percent chance that their children will have either sickle cell disease, or milder variants known as hemoglobin SD or just be carriers of the trait.
The University of Rochester’s Medical Center, Division of Genetics, explains it this way:
“If you and your partner have hemoglobin D trait, there is a 25% chance with each pregnancy that your child will inherit both hemoglobin D genes and have homozygous hemoglobin D. Homozygous hemoglobin D is not associated with health problems.
You should not be concerned for your own health, but if your partner has sickle cell trait, there is a 25% chance with each pregnancy that your child will have hemoglobin SD disease, which can be serious.
A person with hemoglobin SD disease may suffer from anemia and bouts of pain called crises. These crises can occur without warning, affect any part of the body and last hours or days. There may also be problems with frequent infections and unexplained fevers. Daily doses of penicillin and folic acid are required.”- University of Rochester Medical Center, Division of Genetics, http://www.urmc.rochester.edu/genetics/brochures/pdf/hbdbro1.pdf
RACIAL LINK TO INCIDENCE OF HEMOGLOBIN D
“Hemoglobin D is uncommon in North America, occurring in less than 1 of 5000 persons. In the Punjab region of India and Pakistan, approximately 3 percent of the populations have the hemoglobin D Trait. This trait is more common in people of English, Irish, or Scotch ancestry than in those of other ethnic groups.” - The Virginia Sickle Cell Awareness Program (VASCAP), http://views.vcu.edu/pediatrics/vascap/fast_facts/HemoD.PDF
“Hemoglobin D is found in people whose ancestors come from Pakistan and Northwestern India and occasionally Europeans, especially the British and Irish” – University of Rochester Medical Center, Division of Genetics, http://www.urmc.rochester.edu/genetics/brochures/pdf/hbdbro1.pdf
HEMOGLOBIN D CAME TO BRITAIN WITH RACIAL MIXING
“This trait is more common in people of English, Irish or Scotch ancestry than in those of other ethnic groups. The high frequency of hemoglobin D Trait in this population is believed to reflect the large number of Indian wives brought home to England by British troops during Britain's long occupation of India.” - The Virginia Sickle Cell Awareness Program (VASCAP), http://views.vcu.edu/pediatrics/vascap/fast_facts/HemoD.PDF
The proof is thus clear that during the colonial era, (circa 1850 -1950) racial mixing between soldiers in the British Army and Indians took place. Like sickle cell disease, Hemoglobin D was transferred to a White population through interracial contact.
BabylonianJew:
Racial admixture in Slavs Mongoloid blood: chromosomal heritage of Croatian population and its island isolates
Lovorka Bara, Marijana Peri, Irena Martinovi Klari, Siiri Rootsi, Branka Janiijevi, Toomas Kivisild, Jüri Parik, Igor Rudan, Richard Villems and Pavao Rudan
Y chromosome variation in 457 Croatian samples was studied using 16 SNPs/indel and eight STR loci. High frequency of haplogroup I in Croatian populations and the phylogeographic pattern in its background STR diversity over Europe make Adriatic coast one likely source of the recolonization of Europe following the Last Glacial Maximum. The higher frequency of I in the southern island populations is contrasted with higher frequency of group R1a chromosomes in the northern island of Krk and in the mainland. R1a frequency, while low in Greeks and Albanians, is highest in Polish, Ukrainian and Russian populations and could be a sign of the Slavic impact in the Balkan region. Haplogroups J, G and E that can be related to the spread of farming characterize the minor part (12.5%) of the Croatian paternal lineages. In one of the southern island (Hvar) populations, we found a relatively high frequency (14%) of lineages belonging to P*(xM173) cluster, which is unusual for European populations. Interestingly, the same population also harbored mitochondrial haplogroup F that is virtually absent in European populations - indicating a connection with Central Asian populations, possibly the Avars.
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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3056831&dopt=Abstract
1: Hum Genet. 1988 Nov;80(3):207-18
Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins.
Matsumoto H.
Department of Legal Medicine, Osaka Medical College, Japan.
Since the discovery in 1966 of the Gm ab3st gene, which characterizes Mongoloid populations, the distribution of allotypes of immunoglobulins (Gm) among Mongoloid populations scattered from Southeast Asia through East Asia to South America has been investigated, and the following conclusions can be drawn: 1. Mongoloid populations can be characterized by four Gm haplotypes, Gm ag, axg, ab3st, and afb1b3, and can be divided into two groups based on the analysis of genetic distances utilizing Gm haplotype frequency distributions: the first is a southern group characterized by a remarkably high frequency of Gm afb1b3 and a low frequency of Gm ag, and the second, a northern group characterized by a high frequency of both Gm ag and Gm ab3st but an extremely low frequency of Gm afb1b3. 2. Populations in China, mainly Han but including minority nationalities, show remarkable heterogeneity of Gm allotypes from north to south and contrast sharply to Korean and Japanese populations, which are considerably more homogenous with respect to these genetic markers. The center of dispersion of the Gm afb1b3 gene characterizing southern Mongoloids has been identified as the Guangxi and Yunnan area in the southwest of China. 3. The Gm ab3st gene, which is found with its the highest incidence among the northern Baikal Buriats, flows in all directions. However, this gene shows a precipitous drop from mainland China to Taiwan and Southeast Asia and from North to South America, although it is still found in high frequency among Eskimos, Koryaks, Yakuts, Tibetans, Olunchuns, Tungus, Koreans, Japanese, and Ainus. On the other hand, the gene was introduced into Huis, Uyghurs, Indians, Iranians, and spread as far as to include Hungarians and Sardinians in Italy. On the basis of these results, it is concluded that the Japanese race belongs to northern Mongoloids and that the origin of the Japanese race was in Siberia, and most likely in the Baikal area of the Soviet Union.
PMID: 3056831 [PubMed - indexed for MEDLINE]
BabylonianJew:
Racial mixing in Italians: Joining the Pillars of Hercules: mtDNA Sequences Show Multidirectional Gene Flow in the Western Mediterranean
S. Plaza, F. Calafell, A. Helal, N. Bouzerna, G. Lefranc, J. Bertranpetit and D. Comas
Phylogenetic analysis of mitochondrial DNA (mtDNA) performed in Western Mediterranean populations has shown that both shores share a common set of mtDNA haplogroups already found in Europe and the Middle East. Principal co-ordinates of genetic distances and principal components analyses based on the haplotype frequencies show that the main genetic difference is attributed to the higher frequency of sub-Saharan L haplogroups in NW Africa, showing some gene flow across the Sahara desert, with a major impact in the southern populations of NW Africa.
Each of the subregions analysed (NW Africa and SW Europe) shows sequences that originated on the opposite shore of the Mediterranean. This is particularly clear in the case of U6 and L in SW Europe. L sequences are found at frequencies 3% in Iberia and 2.4% in Italy. Given the relatively high frequencies of L sequences in NW Africa, it is not clear whether they were contributed by the historical populations movements from the south to the north of the Mediterranean (such as the Moslem invasions of the 7th-11th centuries), or whether its presence is associated with other processes not directly linked to NW Africa.
Three Italian L sequences have been described throughout Africa, and the remaining five are not found in >1,000 sub-Saharan individuals. Thus, the presence of L sequences cannot be attributed to migration from NW Africa, and may instead represent gene flow from other sources, such as the Neolithic expansion or the Roman slave trade.
Full article can be found cached here.
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AFRICAN ANCESTRY IN SICILY
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=103355&dopt=Abstract
Blood group phenotypes and the origin of sickle cell hemoglobin in Sicilians.
Sandler SG, Schiliro G, Russo A, Musumeci S, Rachmilewitz EA.
As an approach to investigating the origin of sickle cell hemoglobin (hemoglobin S) in white persons of Sicilian ancestry, two groups of native Sicilians were tested for blood group evidence of African admixture. Among 100 unrelated Sicilians, the phenotypes cDe(Rho) and Fy(a-b-), and the antigens V(hrv) and Jsa, which are considered to be African genetic markers, were detected in 12 individuals. Among 64 individuals from 21 families with at least one known hemoglobin S carrier, African blood group markers were detected in 7 (11%). These findings indicate that hemoglobin S is only one of multiple African genes present in contemporary Sicilian populations. The occurrence of hemoglobin S in white persons of Sicilian ancestry is considered to be a manifestation of the continuing dissemination of the original African mutation.
PMID: 103355 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7365760&dopt=Abstract
Sickle cell disease in Sicily.
Roth EF Jr, Schiliro G, Russo A, Musumeci S, Rachmilewitz E, Neske V, Nagel R.
The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mechanical precipitation rate of oxyhaemoglobins, and minimum gelling concentration, as well as by peptide mapping and amino-acid analysis of all beta-chain peptides. Taken together with the presence in Sicily of African blood group markers and certain historical considerations, it seems clear that the source of Hb S in Sicily is Africa. While the clinical severity in nine Sicilian children did not seem remarkably different from the disease in the USA, the most severe and fatal complications were not seen. Mean Hb F Was 10.5% and 2,3-diphosphoglycerate (2,3-DPG) values were higher in Sicilian homozygotes than in black USA counterparts (21.79 mumol/g Hb vs 15.16). Red cell AT values were also slightly higher in Sicilian patients. The presence of concomitant thalassaemia was excluded by both family studies and globin chain synthetic ratios. In conclusion, haemoglobin S in Sicilian homozygotes is identical to Hb S found in USA blacks. Although the severity of the disease seems quite similar in both groups of patients, other erythrocytic properties were found to be different. Whether these factors influence severity remains to be elucidated.
PMID: 7365760 [PubMed - indexed for MEDLINE]
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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3056831&dopt=Abstract
1: Hum Genet. 1988 Nov;80(3):207-18.
Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins.
Matsumoto H. Department of Legal Medicine, Osaka Medical College, Japan.
Since the discovery in 1966 of the Gm ab3st gene, which characterizes Mongoloid populations, the distribution of allotypes of immunoglobulins (Gm) among Mongoloid populations scattered from Southeast Asia through East Asia to South America has been investigated, and the following conclusions can be drawn: 1. Mongoloid populations can be characterized by four Gm haplotypes, Gm ag, axg, ab3st, and afb1b3, and can be divided into two groups based on the analysis of genetic distances utilizing Gm haplotype frequency distributions: the first is a southern group characterized by a remarkably high frequency of Gm afb1b3 and a low frequency of Gm ag, and the second, a northern group characterized by a high frequency of both Gm ag and Gm ab3st but an extremely low frequency of Gm afb1b3. 2. Populations in China, mainly Han but including minority nationalities, show remarkable heterogeneity of Gm allotypes from north to south and contrast sharply to Korean and Japanese populations, which are considerably more homogenous with respect to these genetic markers. The center of dispersion of the Gm afb1b3 gene characterizing southern Mongoloids has been identified as the Guangxi and Yunnan area in the southwest of China. 3. The Gm ab3st gene, which is found with its the highest incidence among the northern Baikal Buriats, flows in all directions. However, this gene shows a precipitous drop from mainland China to Taiwan and Southeast Asia and from North to South America, although it is still found in high frequency among Eskimos, Koryaks, Yakuts, Tibetans, Olunchuns, Tungus, Koreans, Japanese, and Ainus. On the other hand, the gene was introduced into Huis, Uyghurs, Indians, Iranians, and spread as far as to include Hungarians and Sardinians in Italy. On the basis of these results, it is concluded that the Japanese race belongs to northern Mongoloids and that the origin of the Japanese race was in Siberia, and most likely in the Baikal area of the Soviet Union.
PMID: 3056831 [PubMed - indexed for MEDLINE]
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20% MIDDLE EASTERN HAPLOGROUP HG9 IN ITALY
According to a study conducted by Lluís Quintana-Murci et. al.. and published in The American Journal of Human Genetics, Volume 68, 2001, pages 537-542, the Middle Easter Haplogproup HG9 runs at 20% in Italy.
http://www.journals.uchicago.edu/AJHG/journal/issues/v68n2/002418/002418.html
American Journal of Human Genetics., 68:537-542, 2001
Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia
Lluís Quintana-Murci,1 Csilla Krausz,1 Tatiana Zerjal,2 S. Hamid Sayar,3 Michael F. Hammer,4 S. Qasim Mehdi,5 Qasim Ayub,5 Raheel Qamar,5 Aisha Mohyuddin,5 Uppala Radhakrishna,6 Mark A. Jobling,7 Chris Tyler-Smith,2 and Ken McElreavey1
. . .
HG 9, defined by the 12f2 deletion, is largely confined to caucasoid populations, with its highest frequencies being found in Middle Eastern populations.
In Iranian populations, HG 9 shows very high frequencies (30%60%). Populations from the southeastern Caspian region and the Zagros Mountains exhibit the highest frequencies so far observed (60%). High frequencies of HG 9 have been found throughout the Fertile Crescent region (Hammer et al. 2000): Palestinians, 51%; Lebanese, 46%; and Syrians, 57%. The incidences of HG 9 in Pakistan (18%) and northern India (19%) indicate a decreasing-frequency cline from Iran toward India.
Table 1
Frequency Distribution of HG 9 and HG 3 in Human Populations from Different Regions
REGIONa N FREQUENCYb
(%) SOURCE
HG 9 HG 3
Iran:c
Azarbaijan 83 34 17 Present study
Zagros Mountains 34 59 6 Present study
Western Caspian 32 53 3 Present study
Eastern Caspian 25 56 20 Present study
Tehran region 50 30 14 Present study
Central-north 79 39 9 Present study
Central-south 72 38 17 Present study
Eastern provinces 26 35 31 Present study
Pakistan 708 18 32 Present study
India:
Gujurat 58 19 26 Present study
Jaunpur 152 NT 20 Zerjal et al. (1999)
Indians mixed 72 NT 15 Hammer et al. (1998)
Uttar Pradesh 62 7 NT Semino et al. (1996)
Sri Lanka 83 NT 15 Hammer et al. (1998)
Middle East:
Lebanon 24 46 4 Hammer et al. (2000)
Syria 91 57 9 Hammer et al. (2000)
Palestine 73 51 0 Hammer et al. (2000)
Europe:
Turkey 167 33 5 Rosser et al. (2000)
Russia 122 4 47 Rosser et al. (2000)
Ukraine 27 0 30 Rosser et al. (2000)
Latvia 34 0 41 Rosser et al. (2000)
Poland 112 4 54 Rosser et al. (2000)
Greece 36 28 8 Rosser et al. (2000)
Italy 99 20 2 Rosser et al. (2000)
Spain 126 3 2 Rosser et al. (2000)
Africa:
Algeria 27 41 0 Rosser et al. (2000)
Sub-Saharan Africa 199 1 0 Hammer et al. (2000)
BabylonianJew:
Racial mixing in Spaniards: Annals of Human Genetics Volume 67 Issue 4 Page 312 - July 2003
Joining the Pillars of Hercules: mtDNA Sequences Show Multidirectional Gene Flow in the Western Mediterranean
S. Plaza, F. Calafell, A. Helal, N. Bouzerna, G. Lefranc, J. Bertranpetit and D. Comas
Genetic Exchange Through the Mediterranean
Each of the subregions analysed (NW Africa and SW Europe) shows sequences that originated on the opposite shore of the Mediterranean. This is particularly clear in the case of U6 and L in SW Europe. L sequences are found at frequencies 3% in Iberia and 2.4% in Italy. Given the relatively high frequencies of L sequences in NW Africa, it is not clear whether they were contributed by the historical populations movements from the south to the north of the Mediterranean (such as the Moslem invasions of the 7th-11th centuries), or whether its presence is associated with other processes not directly linked to NW Africa. Out of 23 different L sequences in Iberia, two were also found in NW Africa (as well as in sub-Saharan Africa), and 7 others were found in sub-Saharan Africa (in a dataset comprising 1,158 individuals from 20 populations; Graven et al. 1995, Pinto et al. 1996; Watson et al. 1996; Mateu et al. 1997; Rando et al. 1998; Krings et al. 1999; Pereira et al. 2001; Brehm et al. 2002) but not in NW Africa. Treating the set of L sequences in Iberia as if it were a population reveals genetic distances from some W African populations, such as the Senegalese and Yoruba, that are slightly smaller than those between L sequences in Iberia and NW Africa. Thus, it may be the case that gene flow from NW Africa is not entirely responsible for the presence of L sequences in Iberia.
As hinted above, the presence of haplogroup U6 in Iberia may signal gene flow from NW Africa, and those of the subhaplogroup U6b1 recent gene flow from the Canary Islands. Haplogroup U6 is present at frequencies ranging from 0 to 7% in the various Iberian populations, with an average of 1.8%. Given that the frequency of U6 in NW Africa is 10%, the mtDNA contribution of NW Africa to Iberia can be estimated at 18%, with a 95% confidence interval of 8%-26% (estimated by sampling with replacement 10,000 times in populations having the same sample sizes and U6 frequencies as Iberia and NW Africa). This is larger than the contribution estimated with Y-chromosomal lineages (7%, 95% confidence interval 1%-14%, Bosch et al. 2001).
Full article can be found here.
http://www.journals.uchicago.edu/AJHG/journal/issues/v68n4/002582/002582.html
The American Journal of Human Genetics, 68:1019-1029, 2001
High-Resolution Analysis of Human Y-Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberian Peninsula
Elena Bosch, Francesc Calafell, David Comas, Peter J. Oefner, Peter A. Underhill, and Jaume Bertranpetit
In the present study we have analyzed 44 Y-chromosome biallelic polymorphisms in population samples from northwestern (NW) Africa and the Iberian Peninsula, which allowed us to place each chromosome unequivocally in a phylogenetic tree based on >150 polymorphisms. The most striking results are that contemporary NW African and Iberian populations were found to have originated from distinctly different patrilineages and that the Strait of Gibraltar seems to have acted as a strong (although not complete) barrier to gene flow. In NW African populations, an Upper Paleolithic colonization that probably had its origin in eastern Africa contributed 75% of the current gene pool. In comparison, 78% of contemporary Iberian Y chromosomes originated in an Upper Paleolithic expansion from western Asia, along the northern rim of the Mediterranean basin. Smaller contributions to these gene pools (constituting 13% of Y chromosomes in NW Africa and 10% of Y chromosomes in Iberia) came from the Middle East during the Neolithic and, during subsequent gene flow, from Sub-Saharan to NW Africa. Finally, bidirectional gene flow across the Strait of Gibraltar has been detected: the genetic contribution of European Y chromosomes to the NW African gene pool is estimated at 4%, and NW African populations may have contributed 7% of Iberian Y chromosomes. The Islamic rule of Spain, which began in A.D. 711 and lasted almost 8 centuries, left only a minor contribution to the current Iberian Y-chromosome pool. The high-resolution analysis of the Y chromosome allows us to separate successive migratory components and to precisely quantify each historical layer.
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MOORISH INFLUENCE IN IBERIA
According to the study Human Y-Chromosome variation in the Western Mediterranean area: implications for the peopling of the region. by R Scozzari, et. al., and published in Human Immunology, 62(9):871-874 (2001)., the newly defined haplogroup 25.2 reveals the influence of the Moors in Iberia:
http://www.elsevier.com/gej-ng/10/21/30/47/39/28/article.pdf (requires subscription to access)
Human Immunology, 62(9):871-874 (2001)
Human Y-Chromosome variation in the Western Mediterranean area: implications for the peopling of the region.
by R Scozzari, F Cruciani, A Pangracio, P Santolamazza, G Vona, P Moral, V Latini, L Varesi, M Memmi, V Romano, G De Leo, M Gennarelli, J Jaruzellska, R Villems, J Parik, V Macaulay, A Torroni.
"Among the Spanish populations, a small sample of 19 subjects from an isolated population living in a restricted area (Pas valleys) of the community of Cantabria is of particular interest. The origin of this population is not clearly defined [11], although some historical information traces the peopling of the region back to the 11th century as a result of a repopulating from different sources, including Moorish slaves [12].
The newly defined HG25.2 originated on a HG25.1 background. In Africa, HG25.2 is observed in 29% Arabs and 71% of Berbers from Morocco, but is not found in those Ethiopian populations in which a high frequency of the ancestral HG25.1 is observed (R.Scozzari and associates, unpublished results [18]).
Outside Northern Africa, HG25.2 was seen at generally low frequencies in Spain, France, and Italy, although no traces could be detected in the Near East.
However, particularly high frequency of this haplogroup (42%) was found in the Pasiego of the Pas valleys. In the correspondence analysis (Figure 6), the Pasiego do not cluster with the other Spanish populations, but rather with the Arabs and Berbers from Morocco, supporting historic and demographic records that would trace back the origin this population to a heterogeneous resettlement, including also Moslem slaves [12].
The microsatellite diversity associated with HG25.2 provided coalescence age estimates of ;1400 YBP (CI 5 540–2200 YBP). Although it is not possible at present to determine where HG25.2 originated, the simplest interpretation of our data is that HG25.2 diverged from the ancestor HG25.1 somewhere in North Africa a few thousand years ago. A founder effect led first to its expansion among the Berber populations, followed, in historical time, by its spread into the Iberian peninsula.
Interestingly, the distribution YAP(1)/DYS271(A) chromosomes was recently demonstrated to be strongly clinal in Portugal, with the highest frequencies in the south, and interpreted as a reflection the Moorish invasions from North Africa in the Middle Ages [45]. A dissection of the Portuguese YAP(1)/ DYS271(A) chromosomes by PN2 and XY275Y would determine whether they indeed belong to HG25.2, could be inferred from an early report, which unfortunately did not provide haplotype information [46]."
HG25.2, which most likely indicates recent North African admixture, was found at the following frequencies in this study:
Southern Spaniard: 1.6
Asturias: 2.2
Pasiegos: 42.1
Morrocan Arab: 28.6
Morrocan Berber: 71
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