Characteristics of Mongoloid populations based on the human immunoglobulin allotypes

Since the discovery of Gm ab3st haplotype which characterizes Mongoloid populations in 1966, the distribution of the genetic markers of immunoglobulins (Gm) among the Mongoloid populations scattered from Southeast Asia through East Asia to South America has been investigated and concluded as follows: 1) Mongoloid populations characterized by the four Gm haplotypes, ag, axg, ab3st and afb 1b3 are divided into two groups on the basis of analysis of genetic distances based on the Gm haplotype frequencies: one is a southern group characterized by a remarkably high frequency of Gm afb 1b3 and a low frequency of Gm ag and the other is a northern group characterized by a high frequency of Gm a and an extremely low frequency of Gm afb 1b3. 2) Populations in China, mainly Han including minority nationalities, show remarkable heterogeneities from north to south, in sharp contrast to Korean and Japanese populations showing homogeneities, respectively. The center of dispersion of the Gm afb 1b3 characterizing southern Mongoloids must exist in Guangxi and Yunnan area in the southwest China. 3) The Gm ab3st gene found in the highest incidence among the north Baikal Buriats flows in all directions. The gene, however, shows precipitous drop which occur from mainland China to Southeast Asia and from North to South-America, although the Gm ab3st gene is still found in high incidences among Eskimos, Yakuts, Tibetans, Olunchuns, Koreans, Japanese and Ainus. On the other hand, the gene is introduced into Huis, Uighurs, Indians, Iranians and far Hungarians.(ABSTRACT TRUNCATED AT 250 WORDS)     

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.     

On the origin of the Chinese nation: The distribution of immunoglobulin allotypes in forty Chinese populations

Data from population and family studies show that the human immunoglobulin Gm allotypes prove to be unique genetic markers in studies of human genetics, particularly in the characterization of different race or population determined by the differences in Gm hapolotype composition and its frequency. In this paper, a total of 5,641 individuals from 40 populations were typed for Gma, f, x, b, and g factors. The genetic distances between 13 minorities (Zhuang, Uygur, Dong, Hui, Korean, Kazak, Bai, Tibetan, Mongolian, and Oroqen) and 27 Han populations were computed by Nei's method on the basis of Gm haplotype frequencies and a phylogenetic tree was constructed. The conclusions were (1) The common Gm haplotype are afb, axg, a, and ag. The Gmfb haplotype is observed only in Uygur, Hui, and Kazak. (2) There is a parallel relationship between genetic distance and geographic distance for these populations. (3) The Gmafb haplotype frequency increases sharply from north to south, and there is a concomitant sharp decrease in ag and axg frequencies. (4) A hypothesis was proposed by the author that the origin of the Chinese nation might exist in both the Yellow River and the Yangtze River region and the most likely boundary between the Southern and the Northern Chinese is near the thirty degrees north latitude.     

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。     

Human chromosomal polymorphism. III. Chromosomal Q polymorphism in Mongoloids of northern Asia

Summary Q-heterochromatin variants in seven autosomes (3, 4, 13–15, 21, 22) were studied in two Mongoloid populations of northern Asia (Chukchi and Khakass). Q-staining was obtained using propylquinacrine mustard. Of 132 Chukchi individuals aged 13 to 20 years, 124 had Q-polymorphic chromosomes, while eight (6.0%) had no bands with fluorescence levels 4 and 5. The mean number of Q variants was 2.2 per individual.Of the 120 Khakass individuals aged 14 to 17 years, 112 had Q-polymorphic chromosomes, while eight (6.7%) had no Q variants with fluorescence levels 4 and 5. The mean number of Q variants was 2.5 per individual. No differences were found in the frequency of Q variants between sexes in the two populations. There was complete agreement between the observed homo-and heteromorphic frequencies and those predicted by the law of Hardy-Weinberg. As the Mongoloid populations of northern Asia showed statistically significant homogeneity both in the frequency of Q variants and the distribution of homo-and heteromorphic variants, they were examined as a single group—that of northern Mongoloids. The following questions are discussed: (1) the possible selective value of chromosomal Q-heterochromatin material in the adaptation of human populations to certain extreme environmental factors, in particular to cold and hypoxia; (2) the intraracial heterogeneity of Asian Mongoloids; (3) the taxonomic value of chromosomal Q polymorphism in ethnic anthropology.     

Principal component analysis of gene frequencies of Chinese populations

Principal components (PCs) were calculated based on gene frequencies of 130 alleles at 38 loci in Chinese populations, and geographic PC maps were constructed. The first PC map of the Han shows the genetic difference between Southern and Northern Mongoloids, while the second PC indicates the gene flow between Caucasoid and Mongoloids. The first PC map of the Chinese ethnic minorities is similar to that of the second PC map of the Han, while their second PC map is similar to the first PC map of the Han. When calculating PC with the gene frequency data from both the Han and ethnic minorities, the first and second PC maps most resemble those of the ethnic minorities alone. The third and fourth PC maps of Chinese populations may reflect historical events that allowed the expansion of the populations in the highly civilized regions. A clear-cut boundary between Southern and Northern Mongoloids in the synthetic map of the Chinese populations was observed in the zone of the Yangtze River. We suggest that the ancestors of Southern and Northern Mongoloids had already separated before reaching Asia. The ancestors of the Southern Mongoloids may result from the initial expansion from Africa or the Middle East, via the south coast of Asia, toward Southeast Asia, and ultimately South China. Upon reaching the Yangtze River, they might even have crossed the river to occupy the nearby regions for a period of time. The ancestors of the Northern Mongoloids probably expanded from Africa via the Northern Pamirs, first went eastward, then towards the south to reach the Yangtze River. The expansion of the Northern Mongoloids toward the south of the Yangtze River happened only in the last 2 or 3 thousand years.     

GM allotypes in Native Americans: evidence for three distinct migrations across the Bering land bridge

We report the results of typings, for immunoglobulin G allotypes, of 5392 Native Americans from ten samples, the typings having been performed over the last 20 years. Four cultural groups are represented: the Pimans-Pima and Papago; the Puebloans-Zuni and Hopi; the Pai-Walapai; and the Athabascans-Apache and Navajo. The haplotype Gm1;21 has the highest frequency in each population while Gm1,2;21 is polymorphic in all except the Hopi. The Mongoloid marker Gm1;11,13 is found primarily in the Athabascans. The Caucasian haplotype Gm3;5,11,13 is found at polymorphic frequencies in several of the populations but its frequency is very low or absent among nonadmixed individuals. Although Nei's standard genetic distance analysis demonstrates genetic similarity at the Gm and Km loci, the heterogeneity that does exist is consistent both with what is known about the prehistory of Native Americans and traditional cultural categories. When the current Gm distributions are analyzed with respect to the three-migration hypothesis, there are three distinct Gm distributions for the postulated migrants: Gm1;21 and Gm1,2;21 for the Paleo-Indians 16,000 to 40,000 years ago; Gm1;21, Gm1,2;21, and Gm1;11,13 for the second wave of Na-Dene hunters 12,000 to 14,000 years ago; and Gm1;21 and Gm1;11,13 for the Eskimo-Aleut migration 9,000 years ago. The Pimans, Puebloans, and the Pai are descendents of the Paleo-Indians while the Apache and Navajo are the contemporary populations related to the Na-Dene. Finally, the Gm distribution in Amerindians is found to be consistent with a hypothesis of one migration of Paleo-Indians to South American, while the most likely homeland for the three ancestral populations is found to be in northeastern Asia.     

Principal component analysis of gene frequencies of Chinese populations

Principal components (PCs) were calculated based on gene frequencies of 130 alleles at 38 loci in Chinese populations, and geographic PC maps were constructed. The first PC map of the Han shows the genetic difference between Southern and Northern Mongoloids, while the second PC indicates the gene flow between Caucasoid and Mongoloids. The first PC map of the Chinese ethnic minorities is similar to that of the second PC map of the Han, while their second PC map is similar to the first PC map of the Han. When calculating PC with the gene frequency data from both the Han and ethnic minorities, the first and second PC maps most resemble those of the ethnic minorities alone. The third and fourth PC maps of Chinese populations may reflect historical events that allowed the expansion of the populations in the highly civilized regions. A clear-cut boundary between Southern and Northern Mongoloids in the synthetic map of the Chinese populations was observed in the zone of the Yangtze River. We suggest that the a     

免疫球蛋白同种异型Gm因子在四十个中国人群中的分布

根据免疫球蛋白同种异型Gm因子在维吾尔族、哈萨克族、回族、蒙古族、朝鲜族、藏族、鄂伦春族、壮族、侗族、白族、汉族等40个人群中的分布,计算Gm单倍型频率及遗传距离,提出了“中华民族以北纬30度为界,分南北两大发源地”的假说。     

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.     

Human chromosomal polymorphism. I. Chromosomal Q polymorphism in Mongoloid populations of central Asia

Summary A comparative study of frequencies and types of Q-polymorphic variants in seven autosome pairs (3, 4, 13–15, 21, and 22) was performed in three steppe Mongoloid populations of Central Asia (Kazakhs, Dunghans, Mongolians) and three highland Kirghiz populations of Pamir and Tien-Shan. The three steppe Mongoloid populations showed statistically significant homogeneity both in the frequency of Q-polymorphic variants and the distribution of homo- and heteromorphs, with complete agreement of observed frequencies with those theoretically predicted by the law of Hardy-Weinberg. Similar homogeneity was revealed in the three highland Kirghiz populations of Pamir and Tien-Shan. However, comparative analysis of highland and steppe Mongoloids revealed significant differences in the following variables: (1) mean number of Q variants per individual, 2.50 and 3.49 in the highland and steppe populations, respectively; (2) frequency of Q variants in 7 of the 12 autosomes studied; and (3) distribution of homo- and heteromorphs in four autosomal pairs (13–15, 21) with a preponderance of individuals with increased homomorph (-/-) frequency in highlanders.The following questions are discussed: (1) the possible selective value of chromosomal Q-heterochromatin material in the adaptation of human populations to extreme environmental factors, in particular to the high-altitude environment of Pamir and Tien-Shan; (2) the existence of intraracial heterogeneity in Mongoloids living in different ecological zones; and (3) the possible taxonomic value of Q-variant inversion in chromosome 3.     

Genetic and ecological study of aboriginal populations of northeastern Siberia. I. Gm-haplotypes and their frequency in 10 chukchi populations. Genetic structure of reindeer chukchi

G1m (z, a, x, f) and G3m (g, b0, b1, b3, b5, s, t) allotypes were tested in 1079 Chukchi inhabitants of interior Chukotka and adjacent Kamchatka. Genetic variation at this particular locus is provided by the presence of three haplotypes, namely, za;g, zax;g and za;bO35st, revealed with mean frequencies of 0.748, 0.089 and 0.154, respectively. Traces of Caucasian Gm (f;bO135) haplotype were observed in 9 of 10 populations studied. Judging from its frequency in the whole group (0.009), European admixture in Reindeer Chukchi did not exceed 1.3%. Analysis of covariance and variance matrices containing gene frequencies for 11 polymorphic loci revealed the aspects of genetic structure. Simultaneously, the action of systematic versus nonsystematic pressure was also evaluated and interpreted in the light of historical and ecological events.     

Mitochondrial DNA analysis in Tibet: Implications for the origin of the Tibetan population and its adaptation to high altitude

Mitochondrial DNAs (mtDNAs) of 54 Tibetans residing at altitudes ranging from 3,000–4,500 m were amplified by polymerase chain reaction (PCR), examined by high-resolution restriction endonuclease analysis, and compared with those previously described in 10 other Asian and Siberian populations. This comparison revealed that more than 50% of Asian mtDNAs belong to a unique mtDNA lineage which is found only among Mongoloids, suggesting that this lineage most likely originated in Asia at an early stage of the human colonization of that continent. Within the Tibetan mtDNAs, sets of additional linked polymorphic sites defined seven minor lineages of related mtDNA haplotypes (haplogroups). The frequency and distribution of these haplogroups in modern Asian populations are supportive of previous genetic evidence that Tibetans, although located in southern Asia, share common ancestral origins with northern Mongoloid populations. This analysis of Tibetan mtDNAs also suggests that mtDNA mutations are unlikely to play a major role in the adaptation of Tibetans to high altitudes. © 1994 Wiley-Liss, Inc.     

A genetic survey in four Mongoloid populations of the Garo Hills, India

Four Mongoloid populations, viz., Garo , Hajong , Rabha and Koch, belonging to the Tibetoburman language family of Garo Hills, India, were examined for blood types ( A1A2BO , Rh, MN), secretor factor, ability to taste PTC and cerumen types. Gene A1 is more frequent than B in Hajong and Rabha . Garo shows a higher frequency of gene B, Koch also shows a little higher frequency of gene B than A. R1 is the commonest chromosome in all the groups followed by R2. Frequency of gene M is very high in all these populations. In respect of ABH secretion in saliva, there is preponderance of the secretor gene. Incidence of non- taster gene is somewhat lower in them. Dry cerumen gene is frequent in these Mongoloid groups. In general, the Garo Hills populations show closer affinity to the Mongoloids of Northeast India in respect of gene frequencies.     

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.     

Immunoglobulin (GM and KM) allotypes in the Sikh population of India

The populations of India are genetically diverse, both within and between geographic regions; immunoglobulin (GM) allotypes provide important information on genetic differences between populations, since the frequencies of combinations of allotypes (termed "haplotypes") vary dramatically among ethnic groups. As part of a project to assess genetic diversity among defined Indian populations, we have examined eight GM allotypes in a sample of 101 unrelated Sikhs who have migrated to Toronto, Canada: Glm(1, 2, 3, 17) and G3m (5, 15, 16, 21). Sikhs are a religious group that arose in the Punjab about 1500 A.D.; most of the original converts are believed to have been middle to upper-middle caste Hindus. Gm allotyping showed that six Gm haplotypes occurred at polymorphic frequencies (greater than 0.01) in Sikhs: Gm3;5, Gm1,17;21, Gm1,2,17;21, Gm1,17;5, Gm1,17;15,16, and Gm1,3;5. These haplotypes have all been previously reported in Indian populations. The frequencies of the first four haplotypes resembled the published frequencies for lower-caste Hindus of NW India more than upper-caste Hindus. However, the last two haplotypes have been found only in upper-caste Hindus. The frequency of one of these, Gm1,17;15,16 was higher in Sikhs (0.09) than has been reported in any Indian population with the exception of Parsis (who are descended from Iranians). We speculate that the high frequency of this haplotype may have been characteristic of some of the Hindu castes in the Punjab from which Sikhs are descended.     

Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci

We have analyzed 105 autosomal polymorphic short tandem repeat (STR) loci for nine East and South-eastern Asian populations (two Japanese, five Han Chinese, Thai, and Burmese populations) and a Caucasian population using a multiplex PCR typing system. All the STR loci are genomewide tetranucleotide repeat markers of which the total number of observed alleles and the observed heterozygosity were 756 and 0.743, respectively, for Japanese populations. Phylogenetic analysis for these allele frequency data suggested that the Japanese populations are more closely related with southern Chinese populations than central and/or northern ones. STRUCTURE program analysis revealed the almost clearly divided and accountable population structure at K=2–6, that the two Japanese populations always formed one group separated from the other populations and never belong to different groups at K≥3. Furthermore, our new allele frequency data for 91 loci were analyzed with those for 52 worldwide populations published by previous studies. Phylogenetic and multidimensional scaling (MDS) analyses indicated that Asian populations with large population size (six Han Chinese, three Japanese, two Southeast Asia) formed one distinct cluster and are closer to each other than other ethnic minorities in east and Southeast Asia. This pattern may be the caviar of comparing populations with greatly differing population sizes when STR loci were analyzed.     

Finger dermatoglyphics of the Tibetans

Finger prints of 156 Tibetan males and 150 females have been analyzed. Whorls are more abundant in Tibetan males (60.24%) than in females (48.67%). The index of pattern intensity shows a higher value in males (15.95) than the females (14.65). The bimanual differences (both in males and females) are not statistically significant for the occurrence of pattern on the digits of the right and left hands. However, the difference between the sexes for the occurrence of patterns on the finger balls, are statistically significant. Ridge counting was done for each finger. On all fingers, Tibetan males have higher ridge-counts than females. The possible tendency for the right hands to possess higher ridge-counts cannot be demonstrated statistically. Tibetans show greater affinity with the Southern Mongoloids in the frequency distributions of pattern types on the finger balls. However, a more detailed dermatoglyphic study of all the Mongoloid populations in South East Asia, Central Asia and Far East would yield information of great value in disclosing the palmar pattern distributions among the Mongoloids.     

The distribution of the Hb Constant Spring gene in Southeast Asian populations

Summary The distribution of the hemoglobin Constant Spring (Hb CS) gene in eight populations in Southeast Asia (including Assam) was determined using oligonucleotide hybridization. Hb CS was absent in two Assamese populations with a high prevalence of Hb E. The Hb CS gene frequency was 0.033 in northern Thailand and near 0.01 in central Thailand and Cambodia. High frequencies, between 0.05 and 0.06, were observed in northeastern Thailand. The present data and a similar study in Laotians suggest that the Lao-speaking populations of the Mekong River basin in northeastern Thailand and Laos have the highest frequencies of the Hb CS gene in Southeast Asia.     

Distribution of C subtypes and other Tf variants in populations of the USSR

Serum samples from seventeen Caucasoids and Mongoloid populations of the USSR were tested for transferrin (Tf) subtypes. According to Tf patterns, the Caucasoids groups had high TfC1 frequency, whereas Mongoloids are characterized by increased frequency of TfC2 suballele. The following gene frequencies were observed: TfC1 - 0.8515, TfC2 - 0.1166, TfC3 - 0.0129, TfD - 0.0129, TfB - 0.0065 for Russians of Yegoryevsk town; TfC1 - 0.8663, TfC2 - 0.0930, TfC3 - 0.0233 for West-Pamirian populations of Khuf, those being for Pastkhuf 0.8476, 0.1159 and 0.0244, respectively. Mongoloid populations demonstrate following frequencies of five genes described (in the order shown above): 0.7870, 0.1620, 0.0232, 0.0139 for Kirghizes of East Pamir; 0.7963, 0.1805, 0.0050, 0.0182 for Buriats of Suduntui; 0.7647, 0.1985, 0.0074, 0.0221, 0.0037 and 0.0037 (gene TfDX) for Buriats of Sakhiurta, the frequencies of these genes being 0.7647, 0.1985, 0.0074, 0.021, 0.0037 and 0.0037 for Aginsky national district, Chita Region. The total sample of Buriats of Gakhan cluster (Ust-Ordyn national district) and Olkhon island of Irkutsk Region demonstrates following frequencies of genes (in the same order): 0.7876, 0.1962, 0.0012, 0.0057, 0.0082 and 0.7679 and 0.2321, respectively. In addition, a rare anodal variant designated tentatively TfC12Like was found among Pamir populations. The results obtained are compared with those reported for world populations.