PI and TF subtypes in Chuetas (Majorcan Jews).

PI and TF subtypes were studied in a sample of 137 individuals of the Chueta population. In addition to the PI*M alleles, PI*S, PI*Z, and PI*F were observed in the PI system. In the TF system no TF*B or TF*D alleles were found. PI results were compared with those of some Jewish and non-Jewish populations. The relatively high frequency of PI*S is indicative of a substantial Spanish influence. There are no previous data available on TF*C subtypes in Jews. The very low TF*C3 frequency in Chuetas (lower than in Spain) indicates that this allele may be extremely rare or absent in other Jewish populations.     

Ethnic communities in Israel: The genetic blood markers of the Babylonian Jews

One hundred eighty-eight Jewish individuals who either they or whose both parents were born in Iraq were typed for 7 blood groups (ABO, MNS, Rh, Kell, Duffy, P and Kidd), 12 red cell enzyme systems and 2 serum proteins. Iraqi Jews are characterized by a high frequency of A (in ABO), N (in MNS), low cde (Rh) and low Hp-1. Several rare electrophoretic variants were encountered: PGM₁ 6-1, PHI 3-1 and PHI 2-1, and an unidentified AK phenotype. No evidence of Negroid admixture was found in their gene pool. Comparisons with results previously obtained in Iraqi Jews show general similarities in frequencies while comparisons with neighboring non-Jewish populations suggest divergence in most systems investigated. The difficulties of assessing relationships on the basis of a few selected differences and the need for careful interpretations of similarities are emphasized.     

Contribution to study of Asmat genetic variability

During an anthropological survey in the South-West of Irian Jaya (Indonesian New Guinea), 145 blood samples were collected from the coastal Asmat population. ABO, MNSs, Rh, Kell, Duffy and Kidd red cell antigen systems were investigated and the results are presented here. ABO, MNSs, Rh gene frequencies of the Asmat, together with those of 21 other New Guinea populations, were examined by principal component analysis. The topological representation of the distribution of the selected New Guinea populations confirms high variability in the interior of the island, and possible causes are discussed. A hypothesis is advanced, concordant with language evidence which would explain the resemblance among populations from opposite coasts of New Guinea and between some mountain and coastal groups. When the comparison includes 32 other world populations, the New Guinea groups constitute one assemblage distinct from the others.     

Genetic polymorphisms in the Kuwaiti Arabs

Blood samples were collected from 162 Kuwaiti Arabs. These samples were typed for the ABO, MNSs, Rh, Kell and Duffy blood group systems, serum protein haptoglobins, the red cell isoenzymes acid phosphatase, phosphoglucomutase (locus 1), adenylate kinase, 6-phosphogluconate dehydrogenase, and the lactate and malate dehydrogenase variants. Comparisons were made with serological findings for other Arab populations in the Arabian peninsula.     

Variation in the gene frequencies of three generations of humans from Monterrey, Nuevo León, Mexico

Allele frequencies for the ABO, Rh, MNSs, Duffy, Kidd, Lutheran, P and Lewis blood group systems in 207 persons whose 4 grandparents were born in the Monterrey Metropolitan area (MMA), grouped into 3 generations, were ascertained along with other related population from the MMA, Mestizos from Saltillo, Coahuila and Tlaxcala, and from the populations thought to have contributed to their genetic constitution (native Mexican Indians and Spanish). Genetic admixture and distance estimates were calculated. Gene frequencies of the three generations from MMA are intermediate to those of the ancestral populations, indicating that they are Mestizo but with a genetic structure different from Mestizos of Saltillo and Tlaxcala. Both genetic admixture and distance estimates indicate that the oldest generation exhibits the greatest Spanish influence which decreases in the youngest generation and in the other MMA populations as a result of the immigration from the central states of Mexico.     

Genetics of Caucasian population: distribution of various immunological and biochemical markers in western Georgia

The distribution of genetic markers of blood groups (ABO, Rhesus, MNSs, P, Duffy, Kell-Cellano), plasma proteins (Hp, Gc, Tf, C'3) and red-cell enzymes (AcP, EstD, GLO-1), and also ABH secretion among 10 populations of Western Georgia has been studied. The common characteristic of distribution of gene frequencies for the markers studied was obtained as a whole in Georgia. The Georgians were compared for these markers with some populations of the Caucasus, Europe and West Asia. Among Caucasian populations, Georgians are most similar to Abkhasians. According to some systems, Georgians are close to European groups (ABO, Dubby, GLO-1, EstD), while they are similar to West-Asian groups, as judged by other systems (ABH secretion, AcP). According to Rhesus and MNSs systems, Georgians differ both from populations of Europe and from populations of West Asia.     

Genetics of the Caucasian population: distribution of various immunologic and biochemical markers in the Karachaev-Cherkess Autonomous and Kabardin-Balkar Autonomous Republics]

Distribution of the genetic markers of blood groups (ABO, Rhesus, MNSs, P, Duffy, Kell-Cellano, Lewis); serum proteins (Hp, C'3, Tf, Gc); red-cell enzymes (AcP, EstD, GLO-1, 6-PGD, PGM-1) and also ABH-secretion was studied among 6 native populations of the Karachaev-Cherkess Autonomous and Kabardin-Balkar Autonomous Republic. The results were used in analysis of the interpopulation variations and genetic relationship of the populations to their geographical neighbours.     

Distribution of the blood groups of the Norwegian lapps

Blood groups have been determined in samples from 423 Norwegian Lapps. The findings in the ABO, MNSs, P, Rh, Lewis, Duffy and Kidd systems are presented and compared with previous observations in various Lapp populations. Rather marked differences were observed between Lapps living in different geographical locations.     

Genetics of human populations of Caucasus: distribution of various immunological and biochemical markers in eastern Georgia

The distribution of genetic markers of blood groups (AB0, P, Rhesus, MNSs, Duffy, Lewis, Kell-Cellano), of the serum proteins (Hp, Gc, Tf, C'3), red-cell enzymes (AcP, EstD, GLO1) and also ABH-secretion among seven native populations of Eastern Georgia has been studied. The frequencies of genes and haplotypes were calculated for the polymorphic markers and the results obtained were used in analysis of interpopulation variation and genetic relationship of these populations to their geographical neighbours as well as to European and West Asian populations.     

Genetics of the native inhabitants of the Caucasus: distribution of various immunological and biochemical markers in North Osetiia and Checheno-Ingushety

The distribution of genetic markers of blood groups (AB0, Rhesus, MNSs, P, Duffy, Kell-Cellano), plasma proteins (Hp, Gc, C'3, Tf) and red-cell enzymes (Glo-1, AcP, EstD, 6-PGD, PGM1) as well as ABH-secretion has been studied among 6 native populations of North Osetia and Checheno-Ingushety. Distribution of gene frequencies in populations of North-Osetians, Chechenians, Ingushians and other Caucasian ethnic groups was comparatively studied.     

Ethnic communities in Israel: The genetic blood markers of the Moroccan Jews

One hundred and ninety-six Moroccan Jews now settled in Israel were typed for 7 blood groups, 12 red cell enzymes and 2 plasma protein systems. Their blood group picture is in agreement with results previously obtained on different samples of Moroccan Jews: rather high B in ABO, somewhat elevated frequencies of cDE and cDe in Rh and K in Kell. Differences in various blood markers exist between them and other North African Jewish communities. This fact, together with data on disease distribution and HLA frequencies, supports our assumption that Jews in the North African diaspora lived as small secluded isolates even within the same geographical zones. Comparisons with meager data on the neighboring non-Jewish populations do not disclose any resemblance to either Arab or Berber inhabitants of Morocco.     

Gc subtypes in some population groups from Israel. Comparison between world population groups and between Jews and non-Jews of the same areas

Results of Gc subtyping on 1,222 Israelis, Arabs and Jews, are summarized and their gene frequencies are analyzed in comparison with available data on Gc subtypes in non-Jews. A discriminant and a cluster analysis demonstrated that in their Gc subtype frequencies European and non-European Jews resemble the populations of the areas where they lived before immigrating to Israel. A possible explanation for this resemblance, which is seen in some and not seen in other genetic markers in Jews, is suggested here to be connected with the function of Gc as a vitamin D-binding protein.     

Mitochondrial DNA HVRI variation in Balearic populations

The Balearic archipelago (Majorca, Minorca, and Ibiza islands and the Chuetas, a small and inbred community of descendants of Sephardic Jews) and Valencia were studied by means of the sequencing of a 404-bp segment of hypervariable region I (HVRI) mtDNA in 231 individuals. In total, 127 different haplotypes defined by 92 variable positions were identified. The incidence of unique haplotypes was very low, especially in Ibiza and the Chuetas. A remarkable observation in the Chueta community was the high frequency (23%) of preHV-1, a Middle Eastern lineage that is closely related, though not identical, to many others found at high frequencies in different Jewish populations. The presence of this haplogroup convincingly supported the Jewish origin of the Chueta community. The studied populations showed a reduced African contribution, and no individuals were detected with North African haplogroup U6, indicating a lack of maternal contribution from the Moslem settlement to these populations. Only Ibiza showed a lower diversity, indicating a possible genetic drift effect, also supported by the historical information known about this island. The variability in the sequence of mtDNA hypervariable region I correlated well with the existing information from the populations, with the exception of that of the Y-chromosome, which could indicate a differential contribution of the maternal and paternal lineages to the genetic pool of the Balearic Islands. The phylogenetic trees showed the intermediate position of the Chueta population between the Middle Eastern and Majorcan samples, confirming the Jewish origin of this population and their Spanish admixture.     

Gametic disequilibrium in populations of reindeer Chukchi and Asian Eskimos

Ten local populations of Reindeer Chukchi and four local populations of Asiatic Eskimos were surveyed for variation of nine polymorphic loci (MN, Ss, Cc, Ee, Duffy, AcP, PGM1, Hp, G3M). Pairwise linkage disequilibria were estimated from multilocus genotype frequencies using the Hill's method. Large amounts of linkage disequilibrium were found for the two pairs of linked genes MNSs and CcEe. The same pattern of non-random association between unlinked loci PGM1 and AcP was found in all subpopulations of both tribes that is induced by natural selection.     

The Group-Specific Component/Vitamin D Binding Protein (GC/DBP) in Jewish Population Groups. Distribution of common and rare alleles. Description of a new variant GC1C51

The distribution of GC phenotypes and alleles was determined in six Jewish population groups from Israel. In Jews of eastern Europe, central Europe and North Africa, the allele distribution was similar to that of European non-Jewish populations. GC^*2 frequencies were considerably lower in Jews of the Middle East and highest in Jews of the Balkan area (Rumania and Bulgaria). A new rare GC variant allele, hitherto not encountered, was observed in six Jewish individuals of various countries of origin. This variant was classified as GC 1C51.     

The Brazilian Xavante Indians revisited: New protein genetic studies

A total of 94 individuals from the Xavante village of Rio das Mortes were variously studied in relation to 28 protein genetic systems. No variation was observed for 15 of them, in accordance with previous studies. Of the remaining 13, four (Rh, Duffy, acid phosphatase, and GC) showed significant departures from the averages obtained in 32 other South American Indian populations. If studies performed in the 1960s are considered, there is indication that no significant changes in this village's gene pool has occurred in the last 30 years. Comparison with two other Xavante populations included nine systems with variation, and for three of them (MNSs, Rh, and Duffy) significant differences were found. Genetically the Rio das Mortes are closer to the São Marcos than to the Simões Lopes Xavantes. A dendrogram considering 25 genetic systems and 33 South American Indian populations was constructed. There the Xavante were grouped together, in two neighboring clusters, with three other tribes who speak Ge languages. But these clusters also present populations who speak other languages, and the reproducibility of the tree is low. South American Indians, at least with this set of markers, do not seem to be clearly classified into defined subgroups. Am J Phys Anthropol 104:23–34, 1997. © 1997 Wiley-Liss, Inc.     

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data

The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Spanish populations has been proposed on the basis of both a similar haplotype for associated markers and an age estimate that suggests that this mutation appeared several thousand years ago. However, a reappraisal of haplotype data, using the Risch formula properly along with a Luria-Delbrück setting of the genetic clock, allows identification of the likely origin of the N370S mutation in Ashkenazi Jews between the 11th and 13th centuries. This result is consistent with the estimated ages of other mutations that are frequent among Ashkenazim, with the exception of type II (Glu117Stop) factor XI deficiency, which is deemed to be >3000 years old, predating the separation of the Ashkenazi and Iraqi Jews. The present finding supports the hypothesis of a more recent origin for the N370S mutation and is consistent with both a founder chromosome transfer from Ashkenazim who assimilated in some European populations and a non-Jewish origin of the European N370S-bearing chromosomes.     

Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15^th century to 5,000,000 people at the beginning of the 19^th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads.     

Some genetic erythrocyte polymorphisms in the Mbugu and other populations of the Central African Republic with an analysis of genetic distances

Phenotype and gene frequencies of four blood group polymorphisms (ABO, MNSs, Rhesus, and Duffy) as well as hemoglobin types of four populations of the Republic of Central Africa are reported. All these polymorphisms are in Hardy-Weinberg equilibrium. Regarding the four blood group polymorphisms mentioned above the genetic distances according to NEI have been computed for fifteen populations of the Central-Eastern and Central-Western areas of Africa, including the four own samples. The results of these analyses are discussed.     

Investigations on the variability of blood group polymorphisms among sixteen tribal populations from Orissa, Madhya Pradesh and Maharashtra, India.

Sixteen tribal populations from Orissa, Madhya Pradesh and Maharashtra have been typed for the polymorphic blood group systems A1A2B0, MNSs, Rhesus, Kell, Duffy and Diego. The heterogeneity in the distribution of haplotype and allele frequencies, respectively, is partly considerable. It is supposed that this is due to the operation of several microevolutionary factors, such as genetic drift, social and geographic isolation and gene flow. This is discussed in detail.