Investigations on the variability of haptoglobin, transferrin and Gc polymorphisms in Assam, India

Ten different population groups of Assam - Brahmins, Kalitas, Kaibartas, Rajbanshis, Muslims, Ahoms, Chutias, Kacharis, Karbis and Sandwals - have been typed for haptoglobin and for transferrin (Tf) and Gc subtype polymorphisms. Tf and Gc allele subtype frequencies show a considerable inter-population heterogeneity. From genetic distance analysis it appears that the populations under study form some distinct clusters, which can be explained by the historical and ethnic affiliations of these populations. Especially the distribution of Gc subtype alleles reveals some Mongoloid admixture among Assamese populations, which is reflected by the presence of Gc1A8 alleles in them.     

A genetic study on the Newards of Nepal valley

The intergroup differences between the three groups of Newars of Nepal (Shrestha, Gubhaju and Jyapu) are not significant for any of the morphological and genetical characters studied. In body measurements the Newars on the whole are similar to other Nepali populations and to several populations of the western and northeastern Himalayas. In serological characters the Newars resemble the Nepalis as well as many of the Himalayan and Assam tribal populations. In mid-phalangeal hair, phenyltheourea tasting ability and colour-blindness the Newars are similar to several Cis-Himalayan groups. In dermatoglyphic traits, the Newars are close to some Mongoloid populations of the Far East and several populations with Mongoloid affinities residing in the western Himalayas.     

Hemoglobin E distribution in ten endogamous population groups of Assam, India

Previous studies have reported a high incidence of hemoglobin E (HbE) in Northeast Indian populations. In the present study 10 endogamous populations of Assam belonging to two racial groups, Caucasoid and Mongoloid, were examined. The frequency of HbE gene (Hb beta E) in the Caucasoid caste populations is around 0.1, whereas the gene is highly prevalent in the Mongoloid populations, frequencies ranging between 0.2 and 0.6. Predominance of Hb beta E in the Tibeto-Burman speakers is contrary to observations made in Southeast Asia, where an association between Austro-Asiatic speakers and high prevalence of HbE exist. The highest occurrence of the gene in this area, which is on the far end of the proposed centre of distribution in Northern Kampuchea and Northeast Thailand, is also a deviation from the expected pattern of gene distribution. It is speculated that Hb beta E in the Tibeto-Burman populations of Assam arose by an independent mutation which contributed to the high frequencies of Hb beta E in the Northeast Indian populations.     

Genetic variation of five blood group polymorphisms in ten populations of Assam,India

Six Mongoloid and four Caucasoid populations of Assam, India, were examined for A₁A₂BO, Rhesus, Duffy and Diego blood groups. The distribution of their phenotypes and allele frequencies are presented. In the perspective of the ethnographic background, the results have been discussed in terms of genetic variability among these populations and probable reasons for its existence. The major groups, namely Caucasoids and Mongoloids, appear to form two separate groups in terms of these blood groups, though evidence is there to suggest intermixture.     

Population study in Assam: ABO blood groups, haemoglobin E and G-6-PD deficiency

An attempt has been made to give a comprehensive picture of occurrence of ABO blood groups, haemoglobin E and G-6-PD deficiency among certain representative populations of the two major racial groups--Mongoloids and Caucasoids--of Assam, India. The qualitative pattern of distribution of ABO gene frequencies shows a clear demarcation between these two major groups. The same is true in respect of HbE gene, too. The Mongoloids present high frequencies of this gene, while among the Caucasoids its frequency is comparatively much lower. With regard to G-6-PD deficiency the distinction between the two groups is not so clear cut, yet some Mongoloid populations show relatively higher incidence of the trait in comparison to that in the Caucasoid populations.     

Anthropological studies in Assam, India. 1. Observations on five Mongoloid populations

Five Mongoloid population groups from Upper Assam (Ahom, Chutia, Deuri, Mishing and Moran) have been investigated for the distribution of anthropometric and dermatoglyphic traits as well as for that of ABO blood groups and PTC taste sensitivity. The results are discussed with special reference to extent and causes of intergroup variability.     

Anthropological studies in Assam, India. 6. Differentiation processes among Assamese populations

In 1978-79 13 Assamese populations--two Muslim groups, five Mongoloid groups and 6 Hindu caste groups--have been investigated for the distribution of anthropometric, anthroposcopic and dermatoglyphic traits as well as for the distribution of ABO blood groups and PTC taste sensitivity. Except for finger ridge patterns all traits under investigation showed a marked intergroup variability. For anthropometric, anthroposcopic and dermatoglyphic traits a clear differentiation in Mongoloid populations on one hand and Hindu caste groups on the other could be observed and be substantiated by results of corresponding distance analyses. With regard to Muslims it has to be distinguished between Marias who seem to be more closely related to Mongoloid populations and Sheikhs whose phenotypic appearance is more like that of the Hindu caste groups. The results are discussed.     

Genetic diversity of X-chromosome in populations of aboriginal Siberian ethnic groups: linkage disequilibrium structure and haplotype philogeography of ZFX locus

The structure of gene pool of the Siberian aboriginal population has been described based on the data on polymorphism of ZFX gene located on X-chromosome. In ten populations under study 49 haplotypes have been determined, three of which are presented with high frequency. Comparing the obtained results with the available data from HapMap project unique "African" haplotypes were revealed, which occurred in Yoruba population with the frequency of 3-7% and were not found in other populations. A coefficient of genetic differentiation of the Siberian ethnic groups under study amounted to 0.0486. Correlation analysis involving Mantel test did not reveal any significant correlations between a matrix of genetic distances and the matrices of geographic, linguistic and anthropological differences, where a maximum coefficient was obtained at the comparison with the anthropological matrix. Phylogenetic analysis proved strong isolation of African population from the other investigated ethnic groups. The Siberian populations were subdivided into two separate clusters: the first one included Yakuts, Buryats and Kets, while the second cluster included Altaians, Tuvinians and Khanty. A principal component analysis enabled to combine the investigated populations in three groups, which clearly differed by a degree of manifestation of Caucasoid and Mongoloid components. The first group included Europe inhabitants and one of Khanty populations, the second one--populations of South Siberia and China inhabitants. Mongoloid populations of East Siberia, the Japanese and Kets were combined in the third group. The results of barrier analysis revealed similar structure of genetic differentiation in the Siberian population. Linkage disequilibrium structure was obtained for six ethnic groups of Siberia. A unified linkage block by ten SNP of ZFX gene was found in five of the presented ethnic groups (excluding Ket population).     

Transferrin types in different ethnic groups of the USSR and Mongolia

Transferrin (TF) subtypes were studied in 7 different populations from the Soviet Union (Buryats, Russians, Koreans, Kirghizes and Pamirians) and in 3 different populations from Mongolia. The frequency of the C2 gene varied between 10.4% in Pamirians and 27.4% in Koreans and was generally higher in populations of Mongoloid origin. The frequency of the C3 gene was found to be very low (nonpolymorphic) in the Mongoloid groups, but it was also low (1.5%) in Russians. Rare B and D variants were found in 7 populations. The highest D frequencies were found in the Mongoloid populations.     

The blood groups of the Timuri and related tribes in Afghanistan

The present investigation is a study of the blood groups of the Timuri and related tribes in Afghanistan. There is little historical documentation for the origin of the Timuri. Their name is probably a misnomer, however, since they are apparently not descended from the armies of Timur, or Tamerlane, which invaded Afghanistan during the fourteenth century. Relatively few blood group studies have been carried out on the inhabitants of Afghanistan, so detailed comparisons with other populations can be made only for the ABO system. (Certain populations in Iran to the west and a few rather widely separated populations, such as the Baltis and Nepalis to the east, have been more thoroughly investigated, and comparisons can be made with them on at least seven genetical systems.) The presence of the A₂ allele suggests gene flow from the West, but the high frequency of B is consistent with other populations tested in Afghanistan. The Rh frequencies give little critical information but the low level of cde is suggestive of Mongoloid origin. On the other hand, for the MNS system the high level of MS is typically Caucasoid. The high total M is found in Asia both in Caucasoids and Mongoloids. The presence of the Lu^a allele and the relatively high frequency of the K allele are more Caucasoid than Mongoloid, but the presence of even one Diego (Di^a) positive among the Timuri and related tribes suggests a Mongoloid contribution to the gene pool. The low frequency of P₁, though always a little suspect on travelled specimens, is consistent with this. All of the Iranian populations tested may be regarded as essentially Caucasoid from the blood group point of view. The Baltis and Nepalis show certain Mongoloid characteristics. The Timuri are distinctly more Mongoloid than the former but less so than the latter. In summary, the Timuri appear to be intermediate in allele frequencies between Caucasoid and Mongoloid populations, with unmistakable evidence of both in their ancestry.     

中国人群遗传结构分析

本文根据红细胞血型基因频率,用Harpending和Jenkins(1973)方法计算了中国22个人群间的遗传距离,同时在国内首次运用主坐标分析及其排序方法展示了中华民族的遗传结构,反映出中国东西人群与南北人群间的基因流。     

Origin of the Mongoloid component in the mitochondrial gene pool of Slavs

The data on mitochondrial DNA (mtDNA) restriction polymorphism in Czech population (n = 279) are presented. It was demonstrated that in terms of their structure, mitochondrial gene pools of Czechs and other Slavic populations (Russians, Poles, Slovenians, and Bosnians) were practically indistinguishable. In Czechs, the frequency of eastern-Eurasian (Mongoloid) mtDNA lineages constituted 1.8%. The spread of eastern-Eurasian mtDNA lineages belonging to different ethnolinguistic groups in the populations of Europe was examined. Frequency variations of these DNA lineages in different Slavic groups was observed, with the range from 1.2 and 1.6% in Southern and Western Slavs, respectively, to 1.3 to 5.2% in Eastern Slavs, the Russian population of Eastern Europe. The highest frequency of Mongoloid component was detected in the mitochondrial gene pools of Russian populations from the Russian North and the Northwestern region of Russia. This finding can be explained in terms of assimilation of northern-European Finno--Ugric populations during the formation of the Russian population of these regions. The origin of Mongoloid component in the gene pools of different groups of Slavs is discussed.     

Incidence of cleft chin among the Adi and Apatani of Arunachal Pradesh, Northeast India

The occurrence of cleft chin was studied among five endogamous groups (Padam, Minyong, Pasi, Gallong, Apatani) of Arunachal Pradesh, Northeast India. The incidence of this trait is low in all the groups. Thus, the populations are characterized by low frequencies of the gene Cl. Bisexual difference is significant only among the Minyong. While compared with other populations from Northeast India, the Mongoloid populations were found to be distinct from the only caste population, which has been investigated so far.     

Polymorphism of CYP1A1 and CYP2D6 genes in tundra nentses and European populations of western Siberia

Data on the first examination of the CYP1A1 and CYP2D6 genes' polymorphism in the populations of Tundra Nentsis (Yamalo-Nenetskii Autonomous District) and migrant population of Western Siberia (Novosibirsk oblast and Altaiskii krai) are presented. The frequency of the 2D6*4 mutant allele in Tundra Nentsis, characterized by a two-component Caucasoid and Mongoloid origin, was shown to be intermediate in Caucasoid and Mongoloid populations. The frequencies of the 2D6*4 and 1A1Val* mutant alleles across migrant inhabitants of Western Siberia (Caucasoid populations) were similar to that reported for the Caucasoid populations overall. Distribution of the CYP1A1 genotypes (Ile/Ile, Ile/Val*, and Val*/Val*) in Tundra Nentsis was similar to that found in Mongoloid groups. However, the frequency of the 1A1Val* allele in Tundra Nentsis was 1.5 times higher than that in the Southern Mongoloid populations (Chinese, Koreans, and Japanese).     

中国人免疫球蛋白同种异型的研究:中华民族起源的一个假说

调查了我国24个民族、74个群体的免疫球蛋白同种异型Gm、Km分布。测定了9560例个体的Gm(1,2,3,5,21)因子和9611例个体的Km(1)因子。根据Gm单体型频率计算了遗传距离并绘制了系统树。结果支持作者早前提出的有关中华民族起源于古代两个不同群体的假说。这两个群体大致以北纬30度为界,分别居栖在黄河和长江流域。本文数据和其他主要人种的Gm分布资料相比较,作者认为在人类进化中,尼格鲁人种首先和高加索-蒙古人种分离;然后高加索人种和蒙古人种分离。不同人种间的差异,大于同一人种内不同群体间的差异。蒙古人种明显地被分为南、北两大类型,分别以具有高频率的Gm~(1;21)和Gm~(1,3;5)单体型作为种族的标记。与高加索人种关联的Gm~(3;5)单体型存在于中国西北地区的少数民族中,提示混有高加索人种血缘。很可能来源于中亚地区的高加索人,通过“丝绸之路”进入中国。Km因子在所调查的74个群体中呈随机分布。     

Duplications and deletions of the human IGHC locus: evolutionary implications

 A limited number of deletions and duplications within the human immunoglobulin heavy chain constant locus (IGHC) has previously been reported. We studied the IGHC locus in about 500 individuals representing three major races of human, Negroid (Gambian), Mongoloid (Japanese and Chinese), and Caucasoid (Iranian and Swedish). The haplotype frequency of duplications is highest in the Mongoloid population (22%), followed by the Caucasian (10%) and Negroid (5%) populations. The corresponding frequency of deletions are 2, 1.5, and 3.5%, respectively. New types of multiple duplications were found in this study on different genetic (H haplotype and racial) backgrounds. The most common duplication, found in all populations studied, encompasses the IGHA1-IGHE genes. The only deletion common to all racial groups is an isolated deletion of the IGHG4 gene. Our data are consistent with the hypothesis that the Caucasoid-Mongoloid group diverged from the hominoid ancestor after development of the Negroid populations, with subsequent evolution within the respective groups thereafter. Received: 14 June 1996/Revised: 2 August 1996     

Diversity in palmar pattern ridge counts among 12 Iranian populations

Bilateral palmar prints of 604 male individuals from 12 Iranian groups, six Mongoloid and six Caucasoid, have been analyzed for palmar pattern ridge counts (PPRC). Highly significant variation has been observed in the size of the palmar patterns in all the configurational areas among the Iranian groups. The distance analysis based on PPRCs differentiated the Iranian Mongoloid from the Iranian Caucasoid groups into distinct clusters. The pattern of differentiation based on PPRCs explained the ethnohistoric relationships between the Iranian groups as well as between the Iranian and the 20 Caucasoid groups from India much better than the palmar pattern frequencies. The results of this study demonstrate the existence of variation in the size of the palmar patterns across different populations within an ethnic group, as well as that among different ethnic groups, and seems to be a better indicator of interpopulational diversity than the palmar pattern frequencies.     

On the origin of Mongoloid component in the mitochondrial gene pool of Slavs

The data on mitochondrial DNA (mtDNA) restriction polymorphism in Czech population (n = 279) are presented. It was demonstrated that in terms of their structure, mitochondrial gene pools of Czechs and other Slavic populations (Russians, Poles, Slovenians, and Bosnians) were practically indistinguishable. In Czechs, the frequency of eastern-Eurasian (Mongoloid) mtDNA lineages constituted 1.8%. The spread of eastern-Eurasian mtDNA lineages belonging to different ethnolinguistic groups in the populations of Europe was examined. Frequency variations of these DNA lineages in different Slavic groups was observed, with the range from 1.2 and 1.6% in Southern and Western Slavs, respectively, to 1.3 to 5.2% in Eastern Slavs, the Russian population of Eastern Europe. The highest frequency of Mongoloid component was detected in the mitochondrial gene pools of Russian populations from the Russian North and the Northwestern region of Russia. This finding can be explained in terms of assimilation of northern-European Finno-Ugric populations during the formation of the Russian population of these regions. The origin of Mongoloid component in the gene pools of different groups of Slavs is discussed.     

Gm and Km allotypes in 74 Chinese populations: a hypothesis of the origin of the Chinese nation

Summary This paper reports the distribution of immunoglobulin Gm and Km allotypes in 74 Chinese geographical populations. These populations are derived from 24 nationalities comprising 96.6% of the total population of China. A total of 9,560 individuals were phenotyped for Gm(1,2,3,5,21) factors, and 9,611 were phenotyped for Km(1). Phylogenetic trees were constructed on the basis of Gm haplotype frequencies and genetic distances. The results of cluster analysis show the heterogeneity of the Chinese nation, and confirm the hypothesis that the modern Chinese nation originated from two distinct populations, one population originating in the Yellow River valley and the other originating in the Yangtze River valley during early neolithic times (3,000–7,000 years ago). Frequencies of the Gm haplotype of 74 Chinese populations were compared with those of 33 populations from major racial groups. The results suggest that during human evolution, the Negroid group and Caucasoid-Mongoloid group diverged first, followed by a divergence between the Caucasoid and Mongoloid. Interrace divergence is high in comparison with intrarace divergence. There appear to be two distinct subgroups of Mongoloid, northern and southern Mongoloid. The northern and southern Mongoloid have Gm^1;21 and Gm^1,3;5 haplotypes as race-associate markers, respectively. Furthermore, the Caucasian-associated haplotype Gm^3;5 was found in several of the minorities living in the northwest part of China. The presence of the Gm^3;5 haplotype is attributed to the Caucasians living in Central Asia throughout the Silk Road. The amount of Caucasian admixture has been estimated. In contrast to the Gm haplotype distribution, Km¹ gene frequencies showed a random distribution in the populations studied.     

Flatness of facial skeletons in Siberian and other circum-Pacific populations.

Thirty-four populations from Siberian and other circum-Pacific regions were compared in terms of facial flatness measurements of the cranium. While fundamentally having an extremely flat face, Siberian populations tend to be differentiated into two or three subgroups. On the other hand, other Mongoloid populations show greater variation in facial flatness. The less flat faces of the American Indians are almost equal to those of the Europeans. In Japan, the existence of two contrasting groups in terms of facial flatness have been found.