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.     

The ethnological significance of the gamma-globulin (Gm) factors in melanesia

A study was made of the distribution of the immunoglobulin markers Gm(a), (x), (z), (f), (g), (b⁰), (b¹), (b³), (s), (t), (c³), (c⁵) and Inv (1) and Inv (a) in 906 individuals sampled from several population groups living in various parts of New Guinea and New Britain. A study of 123 families confirmed the presence of the following gene complexes: Gm^za;g, Gm^zax;g, Gm^za;b and Gm^fa;b. Gm(s), (t), (c³) and (c⁵) were absent and either all or none of Gm(b⁰), (b¹) and (b³) present. Striking differences occurred in the geographical and ethnic distribution of the Gm gene complexes. Gm^fa;g was either absent or in very low frequency, and Gm^za;b, Gm^zax;g and Gm^za;g were present in varying frequencies in both the highland and western coastal populations in the mainland of New Guinea. All of these populations spoke non-Austronesian languages. On the other hand Gm^fa;b was present in the Melanesian-speaking Motu of the Central District of the mainland, in the Melanesian-speaking Tolai and the non-Austronesian-speaking Sulka and Baining of the island of New Britain. It is suggested that Gm^fa;b and Gm^za;b are respectively Malayo-Polynesian and pre-Austronesian markers, although a clear cut distinction between modern populations derived from these stocks is often blurred by the effects of gene flow and drift. Considerable ethnic and geographical variation was also found in the distribution of Inv(1) and Inv(a). In two Highland NAN-speaking populations the Inv(1⁺a⁺) phenotype percentages were 1.0 and 5.4, whilst percentages ranging from 0.0 to 56.4% were found for coastal MN-speaking populations. The percentages of Inv(1⁺a⁺) in the total MN- and NAN-speaking populations were 31.6 and 10.0 respectively.     

Reindeer Chukchi and Siberian Eskimos: Studies on blood groups,serum proteins,and red cell enzymes with regard to genetic heterogeneity

Phenotype and allelic frequencies for ABO, MNSs, P, Rh, Kell, Duffy, and Diego blood groups, as well as for transferrins (Tf), haptoglobins (Hp), phosphoglucomutase 1 (PGM₁), adenylate kinase (AK), 6-phosphogluconate dehydrogenase (PGD), and acid phosphatase (AcP) are described in 9–10 adjoining populations of Reindeer Chukchi. Additionally, one of three presently existing territorial subgroups of Siberian Eskimos was studied. The total sample size ranges from 931 to 1,066 in Chukchi, and from 99 to 102 in Eskimos, depending on the genetic system studied. Substantially reduced samples for Kidd and ABO secretion were investigated solely in the Reindeer Chukchi. Significant heterogeneity of allelic frequencies has been observed among Chukchi populations (χ = 378.47, P < 0.001). Summed genetic heterogeneity between Reindeer Chukchi and Siberian Eskimos was also found to be highly significant (χ = 186.54, P < 0.001). Both groups can be readily discriminated with only four outliers: NS , P¹, R¹, and P^a. Random genetic drift is suggested to be responsible for a large proportion of heterogeneity of allelic frequencies at the MNSs, P, and Rh blood-group system sites both among the Chukchi and Eskimos. Conversely, stabilizing selection is assumed as the principal agent maintaining homogeneous allelic frequencies at the AcP locus within the Chukchi subdivisions, whereas disruptive selection may be considered as a major factor leading to different p^a frequencies between Chukchi and Eskimos.     

mtDNA diversity in Chukchi and Siberian Eskimos: implications for the genetic history of Ancient Beringia and the peopling of the New World.

The mtDNAs of 145 individuals representing the aboriginal populations of Chukotka-the Chukchi and Siberian Eskimos-were subjected to RFLP analysis and control-region sequencing. This analysis showed that the core of the genetic makeup of the Chukchi and Siberian Eskimos consisted of three (A, C, and D) of the four primary mtDNA haplotype groups (haplogroups) (A-D) observed in Native Americans, with haplogroup A being the most prevalent in both Chukotkan populations. Two unique haplotypes belonging to haplogroup G (formerly called "other" mtDNAs) were also observed in a few Chukchi, and these have apparently been acquired through gene flow from adjacent Kamchatka, where haplogroup G is prevalent in the Koryak and Itel'men. In addition, a 16111C-->T transition appears to delineate an "American" enclave of haplogroup A mtDNAs in northeastern Siberia, whereas the 16192C-->T transition demarcates a "northern Pacific Rim" cluster within this haplogroup. Furthermore, the sequence-divergence estimates for haplogroups A, C, and D of Siberian and Native American populations indicate that the earliest inhabitants of Beringia possessed a limited number of founding mtDNA haplotypes and that the first humans expanded into the New World approximately 34,000 years before present (YBP). Subsequent migration 16,000-13,000 YBP apparently brought a restricted number of haplogroup B haplotypes to the Americas. For millennia, Beringia may have been the repository of the respective founding sequences that selectively penetrated into northern North America from western Alaska.     

The immunoglobulin allotypes (Gm and Km) of twelve Indian Tribes of Central and South America

The Gm and Km immunoglobulin allotypes are presented, for the first time, for six South American Indian tribes (Baniwa, Kanamari, Kraho, Makiritare, Panoa, and Ticuna) and one Central American tribe (Guaymi). Additional allotype information is presented for five previously reported South American tribes (Cayapo, Piaroa, Trio, Xavante and Yanomama). The distributions of the Gm and Km allotypes among all the tribal populations tested to date are reviewed and evidence is presented for the presence of a north (high) -south (low) cline in Km frequency. The wave theory of the populating of the South American continent was tested by an examination of the distribution of six alleles (Gm^ax;g, Gm^a;b0,3,t, Di^a, R^z, TF^D Chi, and 6PGD^C), absent in some populations but with polymorphic proportions in others. The present, limited, data failed to confirm the theory.     

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.     

Genetic History of Aleuts of the Commander Islands as Revealed by the Analysis of the HLA Class II Gene Variability

Variability of the HLA class II genes (alleles of the DRB1, DQA1, and DQB1 loci) was investigated in a sample of Aleuts of the Commanders (n = 31), whose ancestors inhabited the Commander Islands for many thousand years. Among 19 haplotypes revealed in the Aleuts of the Commanders, at most eight were inherited from the native inhabitants of the Commander Islands. Five of these haplotypes (DRB1*0401-DQA1*0301-DQB1*0301, DRB1*1401-DQA1*0101-DQB1*0503, DRB1*0802-DQA1*0401-DQB1*0402, DRB1*1101-DQA1*0501-DQB1*0301, and DRB1*1201-DQA1*0501-DQB1*0301) were typical of Beringian Mongoloids, i.e., Coastal Chukchi and Koryaks, as well as Siberian and Alaskan Eskimos. Genetic contribution of the immigrants to the genetic pool of the proper Aleuts constituted about 52%. Phylogenetic analysis based on Transberingian distribution of the DRB1 allele frequencies favored the hypothesis on the common origin of the Paleo-Aleuts, Paleo-Eskimos, and the Indians from the northwestern North America, whose direct ancestors survived in Beringian/southwestern Alaskan coastal refugia during the late Ice Age.     

Gm and Km(Inv) frequencies in two Roumanian populations

Summary Serum samples from 170 unrelated individuals from the Suceava District of Roumania and from 199 unrelated individuals from Bucharest, Roumania were tested for Gm(1, 2, 3, 5, 6, 13, 14, 17, 21) and Km(1)[Inv(1)]. Selected samples were also tested for Gm(15) and Gm(16).The frequencies of the three common Caucasoid haplotypes, Gm ^{3, 5, 13, 14}, Gm ^{1, 17, 21}, and Gm ^{1, 2, 17, 21} in these two populations were found to be similar to those in neighboring Slavic states and Hungary. Racial admixture was evidenced by the presence of the Gm ^{1, 13, 15, 16, 17} and Gm ^{1, 3, 5, 13, 14} haplotypes, which are primarily Mongoloid, and the Gm ^{1, 5, 13, 14, 17} haplotype which is primarily Negroid.Comparisons of these data with those from earlier studies of populations from Central Europe indicate that the frequency of the Gm ^{3, 5, 13, 14} haplotype within this region is high and essentially uniform. Published data for several blood group systems also indicate essentially uniform distributions of frequencies in this region. It is suggested that this region may be the center of a clin that radiates from it.Post-Doctoral Fellow supported by NIH Training Grant Gm07004.     

Gammaglobulin groups (Gm and Inv) of various Southern African populations

Data are presented on the distribution of the Gm and Inv groups in approximately 3500 individuals belonging to a number of diverse Southern African populations. The indigenous peoples show the presence of the Gm alleles known to occur in Negroes (Gm^{1, 5, 13, 14}, Gm^{1, 5, 6, 14} and Gm^{1, 5, 6}) but the Bushmen possess some of them in very low frequencies and have, in addition and in appreciable frequencies the Gm¹ and Gm^{1, 13} alleles which have not been reported as occurring in West African populations. The distribution of the Gm^{1, 13} allele in various Bantu-speaking tribes of the sub-continent reveals a marked cline, increasing from north to south along the eastern seaboard. The correlation between the frequency of Gm^{1, 13} and the Khoisan morphological, features present in a number of the tribes, and with the linguistic evidence which has been used to group them is high. The Bushmen possess a Gm^{1, 5} allele and may also have a Gm^{1, 5, 13, 14, 17, 21} allele. A Gm^{1, 2, 5, 13, 14, 17} allele seems to be present in the Bantu. Its presence in Eastern New Guinea would also appear to be indicated by the population data presented here.     

Common and uncommon immunoglobulin haplotypes among Lebanese communities

Summary Allotypes of IgG1, IgG2, IgG3, and IgA2 subclasses were investigated in seven Lebanese communities (three Moslem and four Christian). The Gm-Am haplotypes found were mainly those prevalent in Caucasians with a low frequency of haplotypes usually observed in Africans and Orientals. The difference between highlanders and lowlanders as expressed by G2m(23) was highly significant and suggested a possible adaptation to selective pressure related to the 2 genes, possibly due to endemic malaria in the past. Exceptional Gm-Am haplotypes were unambiguously determined by family studies. Some were characterized either by a deletion or a repression or, in contrast, by a partial or total duplication of genes. Two others had uncommon combinations of allotypes: Gm ^{17;23;5,10,11,13,14} A2m ¹, where G1m(17) was present without G1m(1); and Gm ^3;23;5,14 A2m ¹, where the CH3 allotypes G3m(10,11,13) were lacking.To whom offprint requests should be sent     

Tn5-Induced Mutations in the Enterobacterial Phytopathogen Erwinia chrysanthemi

Escherichia coli (2492/pJB4JI) matings with Erwinia chrysanthemi produced kanamycin resistant (Km^r) transconjugants, a majority of which were gentamicin sensitive (Gm^s). A small proportion (about 0.8%) of the Km^r Gm^s clones were either auxotrophic or failed to catabolize galacturonate (Gtu⁻). The R plasmid (pJB4JI) DNA was detected in the parent E. coli strain and in a Km^r Gm^r transconjugant, but not in Km^r Gm^sE. chrysanthemi strains carrying Tn5-induced mutations. In Hfr crosses, Km^r (Tn5) was found linked with most mutations. A majority (>95%) of prototrophic recombinants were Km^s, except for Leu⁺ and Arg⁺ recombinants which were 30 to 50% Km^s. Spontaneous revertants were obtained for all markers except car, gtu, lys, thr, and trp. Prototrophic revertants, with the exception of Met⁺, Leu⁺, or His⁺ clones, were Km^s. We conclude from both genetic and physical data that Tn5 transposed from pJB4JI into different sites on the chromosome of E. chrysanthemi.     

Genetic history of Aleuts of the Komandor islands from results of analyzing variability of class II HLA genes

Variability of the HLA class II genes (alleles of the DRB1, DQA1, and DQB1 loci) was investigated in a sample of Aleuts of the Commanders (n = 31), whose ancestors inhabited the Commander Islands for many thousand years. Among 19 haplotypes revealed in Aleuts of the Commanders, at most eight were inherited from the native inhabitants of the Commander Islands. Five of these haplotypes (DRB1*0401-DQA1*0301-DQB1*0301, DRB1*1401-DQA1*0101-DQB1*0503, DRB1*0802-DQA1*0401-DQB1*0402, DRB1*1101-DQA1*0501-DQB1*0301, and DRB1*1201-DQA1*0501-DQB1*0301) were typical of Beringian Mongoloids, i.e., Coastal Chukchi and Koryaks, as well as Siberian and Alaskan Eskimos. Genetic contribution of the immigrants to the genetic pool of proper Aleuts constituted about 52%. Phylogenetic analysis based on Transberingian distribution of the DRB1 allele frequencies favored the hypothesis on the common origin of Paleo-Aleuts, Paleo-Eskimos, and the Indians from the northwestern North America, whose direct ancestors survived in Beringian/southwestern Alaskan coastal refugia during the late Ice Age.     

Immunoglobulin allotypes (GM and KM) indicate multiple founding populations of Native Americans: evidence of at least four migrations to the New World.

On the basis of GM and KM typing and language, approximately 28,000 Amerindians were divided into 4 groups of populations: non-Nadene South American (8 groups), non-Nadene North American (7 groups), Nadene (4 groups), and Eskaleuts (6 groups). These groups were compared to four groups of Asian populations. The distribution of GM haplotypes differed significantly among and within these groups as measured by chi-square analysis. Furthermore, as reflected in a maximum linkage cluster analysis, Amerindian populations in general cluster along geographic divisions, with Eskaleuts and Nadenes clustering with the Asian populations and non-Nadene North American and non-Nadene South American populations forming two additional clusters. Based on GM haplotype data and other genetic polymorphisms, the divisions appear to reflect populations that entered the New World at different times. It appears that the South American non-Nadene populations are the oldest, characterized by the haplotypes GM*A G and GM*X G, whereas later North American non-Nadene populations are characterized by high frequencies of GM*A G and low frequencies of GM*X G and GM*A T. In contrast, Eskaleuts appear to have only GM*A G and GM*A T. The Nadene speakers have GM*X G and GM*A T in higher and approximately equal frequencies. Maximum linkage cluster analysis places the Alaskan Athapaskans closest to northwestern Siberian populations and the Eskaleuts closest to the Chukchi, their closest Asian neighbor. These analyses, when combined with other data, suggest that, in the peopling of the New World, at least four separate migrant groups crossed Beringia at various times. It appears likely that the South American non-Nadene entered the New World before 17,000 years B.P. and that the North American non-Nadene entered in the immediate postglacial period, with the Eskaleut and Nadene arriving at a later date.     

Studies on serum groups in the Kumaon region,India

Summary A total of 469 individuals belonging to 4 endogamous groups (Brahamins, Rajputs, Doms and Tharus) from the Kumaon region (North India) were tested for Hp, Gc, Gm and Inv systems.The frequency of the Hp¹ allele is low (0.130–0.220) in all 4 groups as in the case of other Indian populations. The absence of the Gm⁵ allele and high frequency of Inv(1) (49.34%) confirm the Mongoloid affiliations of the Tharus. Brahamins, Rajputs and Doms possess 4 alleles (Gm¹, Gm^1,2, Gm^1,5 and Gm⁵) at the Gm locus and the frequency of Gm^1,2 allele is very low (0.067–0.106) for these groups. The frequency of Inv(1) for Brahamins (19.61%) and Doms (22.78%) lies within the range of variation of European populations. Rajputs, however, show a higher Inv(1) frequency (38.76%).Genetic distances calculated with the help of Hp, Gc and Gm systems demonstrate similarity between Brahamins, Rajputs and Doms and a deviant position for the Tharus.Supported by the Deutsche Forschungsgemeinschaft.     

Gm and Km allotypes in four Sardinian population samples

Serum samples of 683 unrelated male and female individuals of four Sardinian population samples (Sassari, Nuoro, Oristano and Cagliari) were typed for G 1 m (1, 2, 3, 17), G 3 m (5, 6, 10, 11, 13, 14, 15, 16, 21, 26), and Km (1). Phenotype, haplotype (Gm), and allele frequencies (Km), respectively, show a remarkable variability between these four population samples. Comparisons with other Italian populations reveal the considerable genetic difference of the Sardinians, which is in particular caused by the presence of the haplotype Gm^{1, 3, 5, 10, 11, 13, 14, 26} in them. This haplotype is quite uncommon in Europeans and may reflect gene flow from Eastern populations (Phoenicians?) who came to this island in ancient-history times.     

Immunoglobulin Allotypes of European Populations. I. Gm and Km(Inv) allotypic markers in Hungarians.

The distribution of G1m(f, z, a, and x), G3m(b0, b1, b3, c3, c5, g, s, and t) and Km(1) (formerly Inv[1]) allotypic markers have been examined in 184 Hungarians. The results indicate that the frequency of the immunoglobulin haplotypes Gmza;g, Gmzax;g, Gmf;b and Km1 is similar to the frequencies observed in surrounding populations. In addition, Hungarians were found to be polymorphic for the Oriental haplotype Gmza;bst, and had low frequencies of other uncommon haplotypes. Our data indicate that about 5% of the Hungarian genome is of Oriental origin.     

Gm and Inv (Km) studies of melanesian people on the Huon Peninsula in northeast Papua New Guinea: Polymorphism for a Gm1,5,10,11,13,14,17,21,26 haplotype

Blood samples from 448 people living in six villages in the Huon Peninsula in northeast Papua, New Guinea, were tested for Gm(1,2,3,5,6,10,11,13,14,17,21,24,26) and Inv(1) [Km(1)]. All the people are non-Austronesian (NAN) speakers. As expected, there was a low frequency of the Gm^{1,3,5,10,11,13,14,26} haplotype, but in contradiction to expectations there was a complete absence of the Gm^1,2,17,21,26 haplotype. In addition, samples from people in one village (Yupna) and probably those for two other villages (Irumu 13 and 14) have the rare haplotype Gm^{1,5,10,11,13,14,21,26} at polymorphic frequencies. Two samples from people living in Yupna had the rare phenotype Gm(1,3,17,21,26), indicating the presence of any one of several rare haplotypes that had been observed in other populations. These are discussed.     

Gm haplotype distribution in Amerindians: Relationship with geography and language

A review is made of the Gm haplotype distribution in 60 groups of Eskimos, North, Central and South American Indians, totaling 22,808 individuals. Differences were observed in the shapes of the distribution of Gm*ag and the other markers. Nearly identical values for F_ST and average heterozygosities were obtained in the North+Central/South comparisons. North-South and Southwest/Northeast clinal differences were observed in the Americas using correspondence factorial analysis. The two haplotypes mainly responsible for these differences are Gm*axg and Gm*abOst. When the populations are classified by language groups, besides the recognized differences between Eskimos and Athabaskan (Na-Dene) speakers compared with Amerinds, others are found. For instance, Uto-Aztecan speakers of the United States and Mexico differ in Gm frequencies from the Nuclear Chibchan, Macro-Arawak, and Carib speakers of Central and South America. The notion of a homogeneous Amerind genetic pool does not conform with these and other results. © 1993 Wiley-Liss, Inc.     

Genetic and ecological study of aboriginal inhabitants of the Siberian northeast. IV. Genotype and genetic structure of three modern populations of Yakutia

Three separate and reproductively isolated populations living at present in boreal forest and tundra area in Eastern Siberia were studied. Blood groups (AB0, MNSs, Rhesus, Duffy, P. Diego), immunoglobulin allotypes--G1m (z, a, x, f), G3m (b, b0, b1, b3, s, t), Hp, Tf, PGM1, AcP, 6-PGD were tested in blood samples obtained from total 570 individuals. Analysis of covariance and variance matrices containing gene frequencies of the Nganasans, Reindeer Chukchi, the Yugaghir and the Evens has revealed major aspects of regional genetic structure which is in good accordance with regional history and geography.     

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.