Studies on several genetic hematological traits of the Mexican population. XVI. Hemoglobin, S and glucose-6-phosphate dehydrogenase deficiency in the east coast

The distribution of abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency, blood group antigens A, B, M, N, C, c, D, E, e, V, Duffy and Diego, serum haptoglobins, transferrins and pseudocholinesterase types, were investigated in five villages of the East Coast of Mexico, where vivax malaria was endemic until recently. Hemoglobin S and G-6-PD deficiency were present in variable degrees in all five locations. All patients with the enzyme deficiency had the A band by electrophoresis, which coupled with the presence of hemoglobin C and haptoglobin 2-1 M in a few individuals strongly suggested Negro admixture. The high frequency of antigen V and the relatively low frequency of Fy (a +) were congruent with the above hypothesis and the conclusion was drawn that the presence of hemoglobin S and G-6-PD deficiency in this area is due to Negro admixture. Unusually high frequencies of the Diego antigen were observed in three of the five villages studied.     

Some blood genetic characteristics of several Sudanese tribes

The distribution of ABO and Rhesus blood groups, serum haptoglobin, and transferrin; red cell glucose-6-phosphate dehydrogenase and acid phosphatase; and hemoglobin was studied among the two aboriginal negroid tribes (Nuba and Fur); the Nilotic tribe; five tribes of Arab ancestory; and a mixed group of other minor tribes of Arab origin. The Nilotic and Nuba tribes were genetically quite distinct from the rest, with lower R1, R2, and r in the Rhesus system and low HbS and Gd-. The Arab tribes had a genetic structure which was intermediate between that of the original negroid population of the Sudan and the Arabs to the north. However, some of the Arab tribes had special genetical characteristics, e.g., Messeria had high TfD1; both Messeria and Hawazma had high HbS and Gd-, while GdA was higher only in the Hawazma. The Gaalin had very low HbS, Ro, GdA, and Gd-, suggestive of less negroid admixture compared to Messeria and Hawazma. The Fur, though an aboriginal negroid tribe, had genetic characteristics similar to Arabs.     

Genetic relationships between Amerindian populations of Argentina

A total of 495 individuals from five different Argentinian tribes was examined for variation in 23 blood group and protein genetic systems, and the results were integrated with previous data on some of these systems. These tribes generally present RH * R1, PGM1 * 1, and ACP * A frequencies lower and RH * R2, ESD * 1, and GLO * 1 prevalences higher than those observed in other South American Indian groups. Earlier studies with mitochondrial DNA showed that haplogroup A was present in low frequencies in these tribes, but haplogroup B showed a high prevalence among the Mataco. Average heterozygosities are very similar in the five tribes, while estimates of non-Indian ancestry are generally low. Both the blood group and protein, as well as the mtDNA data sets, divide the five tribes into two groups, and the relationships obtained with the blood group and protein systems are exactly those expected on the basis of geography and language. However, the topology obtained with the mtDNA results was different, possibly due to sampling effects or diverse patterns of exchange between the groups related to sex.     

Studies on several genetic hematological traits of the Mexican population. XIV. Serum polymorphisms in several indian tribes

The distribution of haptoglobins, transferrins and serum pseudocholinesterase in 1353 Mexican Indians belonging to 13 tribes is described. The frequency of the Hp¹ gene is variable; it ranges from 0.40 to 0.65, although the majority of values fall between 0.50 and 0.65. The reason for this variability is obscure; there is no correlation between Hp¹ values and linguistic affinities or habitat, and different degrees of nonIndian admixture are not accountable for the situation. It is suggested that possibly the main factor determining the present day distribution is the founder effect. Only 16 individuals have a transferrin different from C; in two, the CD phenotype is seen and the rest belong to the BC variety. Ten of the latter identified as B_0–1C, are found in a single tribe, the Cora. The scarcity of unusual transferrins in the Amerindians is corroborated in this study, although it may be somewhat unusual that the majority of them are of the fast moving type rather than of the more common slow moving type. The overall frequency for the atypical pseudocholinesterase gene is of 0.005 and therefore lower than that found in most other populations, except for two Venezuelan and two Bolivian tribes where the atypical gene is absent. Thus, present findings suggest that the atypical gene was either absent or had a very low frequency in the ancestors of present day Amerindians.     

HLA class I and class II polymorphism in the population of Rijeka,Croatia

The aim of the study was to examine frequencies of HLA-A, -B, -DR antigens and haplotypes in population of Rijeka and to compare them with general Croatian and European populations. The subjects were 117 unrelated healthy blood donors. The antigens with the highest frequencies were: A2 (27.2%), A9 (16.3%), B5 (14.8%), B12 (11.8%), B18 (11.8%), DR5 (21.6%) and DR6 (13.8%). Comparison of HLA antigens frequencies has shown statistically significant difference in 1 antigen with Croatian population and in 8 antigens with European population. The HLA haplotypes with high frequencies included HLA-A2, B5 (6.84%), HLA-A2, B12 (6.84%), HLA-A2, B18 (6.84%), HLA-B12, DR2 (9.78%) and HLA-B18, DR5 (6.84%). The antigen B5 showed strongest association with DR5 (6.41%; LD = 1.30) as in general Croatian and in some European populations. The results have shown great diversity of HLA haplotypes in Rijeka population which can be the result of admixture with neighborhood immigrating populations during the history.     

Further data on the microsatellite locus D12S67 in worldwide populations: an unusual distribution of D12S67 alleles in Native Americans

We report the frequencies of alleles at the microsatellite locus D12S67 in 2 widely separated ethnic groups of the world: 2 populations from Sulawesi, an island in the Indonesian archipelago, and 5 Native American tribes of Colombia, South America. The allele frequencies in the Minihasans and Torajans of Sulawesi are similar to each other (but the modal class allele is different) and in general agreement with those reported in mainland Asian groups, but different from both Europeans and Chinese Han of Taiwan. The 5 Native American tribes (Arsario, Kogui, Ijka, Wayuu, and Coreguaje) display different allele frequencies from those seen in Sulawesi populations, in other groups from Europe and mainland Asia, and in Chinese Han of Taiwan. Native Americans exhibit a bimodal distribution of alleles, unlike other groups, with significant differences among the tribes. The Arsario and Kogui have no admixture with Europeans or Africans and are the most distinctive, while the Wayuu have the most admixture and show most similarity to other groups. The data suggest that nonadmixed Native Americans may be quite distinctive with respect to this marker. The most common allele varies across the 5 tribes, from 249 base pairs to 261 base pairs. All samples exhibit Hardy-Weinberg genotype proportions; heterozygosities are lowest in the 2 nonadmixed Native American tribes. Examination of all the available data indicates that some east Asian and southeast Asian groups are characterized by a high frequency of smaller sized D12S67 alleles, while other populations have a greater proportion of the larger sized alleles. The cumulative, though still highly restricted, population data on locus D12S67 demonstrate that it may be of considerable value in anthropological genetic studies of ethnic groups. Data are required on Native Americans outside Colombia before this marker can be used in admixture studies of this group.     

Participation of Indo-European tribes in ethnogeny of the mongoloid population of Siberia: analysis of the HLA antigen distribution in mongoloids of Siberia.

Three hundred forty-three Yakuts (mongoloids of central Asian type living in Siberia) were tested for HLA-A, -B, and -C loci. The HLA antigen distribution corresponds on the whole to a mongoloid population with high frequency of the HLA-A9, -B15, and -B40 antigens (phenotype frequencies .533, .367, and .405, respectively). At the same time a strikingly high frequency for the "Indo-European" HLA-A1 antigen (phenotype frequency .282) was detected, which in Yakuts is found exclusively with HLA-B17 (haplotype frequency x 1,000 = 87.0; linkage disequilibrium value x 1,000 = 63.8). The present paper deals with a new hypothesis of the Yakut ethnogenesis according to which ancient Aryan tribes formed the substratum which was later assimilated by the mongoloid and Turkic populations. Another hypothesis that I have advanced argues that from analysis of the HLA system the ancient Aryans formed, a local group within the Indo-European entity, with high frequency for HLA-A1 and -B17 antigens and for the HLA-A1,B17 haplotype and with a complete absence of or very low frequency for the HLA-B8 antigen and for the HLA-A1,B8 haplotype. Significant linkage disequilibrium, as it is found in Indians and Yakuts, etc., could have resulted from mixing of the Aryans with non-Indo-European tribes. No significant linkage disequilibrium between A1 and B8 characteristic of the European caucasoids was produced in the mixing.     

Homo sapiens: From man to demigod. By Bernhard Rensch. ix + 228 pp., figures,bibliography, index. Columbia University Press,New York. 1972. $10.00 (cloth)

The Zuni Indians of west-central New Mexico have been relatively isolated since their foundation by an amalgamation of individuals from different southwestern cultural areas during the Regressive Pueblo period (c.1200–1350 A.D. ). Genetic analysis revealed a high frequency of blood type B in both young (0.06) and old (0.05) Zuni, but at 14 other blood group and serum protein loci, allelic frequencies including A (0.011) and Rh negative (0.001) were generally similar to those of other relatively unmixed southwestern Indian tribes. Consideration of Zuni history and demography since Spanish contact in 1540, together with genetic analyses, suggest that the high B frequency probably derives from intermixture with a small number of B, Rh positive non-Indians in the early post contact period. Genetic differentiation among four southwestern tribes, Zuni, Pima, Papago and Maricopa, was summarized by kinship analysis. Approximately 70% of the inter-tribal genetic variation could be explained by the geographic distances among these groups showing that isolation by distance has been the most important factor in determining the pattern of regional genetic differentiation.     

Some blood genetic markers of the Nuba and Hawazma tribes of western Sudan

Two hundred eighty subjects comprising 112 Nuba and 168 Hawazma of the Sudan were tested for the distribution of hemoglobins, eight red cell enzymes, and four serum proteins. The Nuba, the indigenous negroid tribe, had no HbS, HbO-Arab, or GdB(Khartoum) compared to the Hawazma tribe of Negro-Arab descent. The gene frequencies of the above polymorphic systems in the latter were as follows: HbS, 0.13; HbO-Arab, 0.01; GdB(Khartoum), 0.03. The frequency of GdA was higher in the Hawazma than in the Nuba. A high frequency of glucose 6-phosphate dehydrogenase (G6PD) deficiency and HpO was present in both the tribes. Essentially similar gene frequencies of Hp1, TfD, PGDC, pC, and PGM1 were observed in both Nuba and Hawazma. The average heterozygosity at five polymorphic loci was the same (0.23) in both the tribes. The above results agree with the social practice whereby people of mixed Hawazma and Nuba descent are considered members of the Hawazma tribe and confirm that racial admixture between the two groups can be seen as a process of gene flow from the Nuba to the Hawazma, even though the Nuba are the indigenous group, while the Hawazma are the new settlers.     

红细胞血型十九种抗原在黑龙江汉族人群中的分布

对哈尔滨地区152名无血缘关系、三代均为黑龙江省人的八个红细胞血型系统的十九个抗原进行了分型,结果表明：ABO系统中B型较多,占32．24％;Rh系统中CCDE-型人数最多,占32．24％;MN系统中M型（30．26％）多于N型（25．00％）;Lewis系统中Le(a ）比例（14．48％）略低;Duffy系统中未发现Fy(a-b-)型;Kidd系统中Jk(a )型高达72．37％;Dicgo系统中Di(a )型频率（3．29％）和P系统中P1型频率（ 31．58％）均低于国内其他地区汉族。     

On sociogenetic clines

Both in England and Chile the A blood group is found more frequently in the higher socioeconomic strata. The O group behaves inversely. This seems to be true, at least, for blood donors in England and for the general population in Chile. This sociogenetic cline interacts with sex, being less evident in women. In Chile the Rh system shows a cline with a higher frequency of the Rh(-) or d allele in higher socioeconomic strata. The Chilean population originated from the admixture of Europeans (mostly Spaniards) and Chilean aborigines (since 1541). Spaniards had high frequencies of the A and d alleles and an appreciable frequency of the B alleles. Chilean aborigines had very low frequencies or totally lacked these alleles. Spaniards maintained the higher socioeconomic strata and manual labor was performed by mestizos or aborigines. Thus the Chilean sociogenetic cline was explained by ethnic admixture, socioeconomic discrimination, and socioeconomic assortative mating. The present results show that the exclusive historical and cultural explanation of the cline is not sufficient and a genetic factor should be added to the former ones. The distribution of the ABO groups in England and Chile were found to be similar only in stratum I, the other strata being strikingly different. The AB and B groups did not reflect the cline in either population. The Chilean stratum I showed higher d and lower O gene frequencies than present Spaniards populations, a result that cannot be explained by cultural factors. The distribution of ABO groups in a sample of Chilean medical students and in children from public schools showed a strong interaction with sex. No genetic mechanism can be proposed to fit these results, however psychological heterosis seems a good approximation.     

Blood groups and ABH saliva secretion in Koya Dora and Konda Kammara tribes of Andhra Pradesh

The present paper reports the distribution of blood groups and ABH saliva secretion in two Andhra tribal populations: the Koya Dora and the Konda Kammara. 100 Koya Dora and nearly 110 Konda Kammara adults of both sexes were tested for A1A2BO, MN, Rh (CcDEe) blood groups and ABH saliva secretion. The gene frequencies for A1A2BO, MN and ABH and the gene as well as chromosome frequencies for Rh (CcDEe) systems were calculated. Koya Doras show a higher incidence of A gene than B gene, while the reverse trend is seen in Konda Kammaras. Both the tribes show a high M gene frequency. No Rh(D) negative individual was found in Koya Doras, while 4.59% of Konda Kammaras are Rh(D) negative. The chromosomes CDE, CdE, cDe, cdE, Cde and cde are absent in Koya Doras, while only the four chromosomes CDE, CdE, cDe and cdE are absent in Konda Kammaras. The chromosome CDe shows the highest frequency in both the tribes. The frequency of secretors is, as usual, higher than that of nonsecretors in both the tribes. The intergroup variation between the two tribes is not statistically significant for MN, Rh (CcDEe) and ABH systems, while the difference is significant for the A1A2BO blood groups. Suitable comparisons have also been made with all the other available data from Andhra Pradesh tribal populations with respect to different systems studied. Finally Fi estimates have been calculated after Harpending et al. (1973) and Workman et al. (1974) for Koya Doras and Konda Kammaras to assess their degree of endogamy, considering the codominant systems studied, which suggest that Koya Doras are relatively more isolated than Konda Kammaras.     

Some blood genetic markers of selected tribes in Western Saudi Arabia

A total of 292 randomly selected subjects belonging to two indigenous Arab tribes (Harbi and Ghamid) and two immigrant tribes (Mograbi and Mowallad), residents in Western Saudi Arabia, have been tested for genetic variants of six blood groups, four serum proteins, and five red cell enzyme systems. The distribution of the polymorphic systems was different between indigenous and immigrant tribes, and the present Arab population shows a considerable degree of admixture from the surrounding countries, in particular Africa.     

Distribution of four founding mtDNA haplogroups among Native North Americans

The mtDNA of most Native Americans has been shown to cluster into four lineages, or haplogroups. This study provides data on the haplogroup affiliation of nearly 500 Native North Americans including members of many tribal groups not previously studied. Phenetic cluster analysis shows a fundamental difference among 1) Eskimos and northern Na-Dene groups, which are almost exclusively mtDNA haplogroup A, 2) tribes of the Southwest and adjacent regions, predominantly Hokan and Uto-Aztecan speakers, which lack haplogroup A but exhibit high frequencies of haplogroup B, 3) tribes of the Southwest and Mexico lacking only haplogroup D, and 4) a geographically heterogeneous group of tribes which exhibit varying frequencies of all four haplogroups. There is some correspondence between language group affiliations and the frequencies of the mtDNA haplogroups in certain tribes, while geographic proximity appears responsible for the genetic similarity among other tribes. Other instances of similarity among tribes suggest hypotheses for testing with more detailed studies. This study also provides a context for understanding the relationships between ancient and modern populations of Native Americans. © 1996 Wiley-Liss, Inc.     

HLA antigens and other genetic markers in the Mapuche Indians of Argentina

A total of 107 Mapuche Indians living in western Argentina were studied with respect to 16 genetic systems. For HLA, there were a few differences in relation to previous studies; and considering the averages observed in 15 other South American tribes, Mapuche Indians showed low values for A2, A9 and C3, but high ones for A28 and B16. This is the first report of the presence (in low frequencies, 1-6%) of alleles C2, C6 and C7, as well as of DR antigens (most frequent alleles DR4 and DR2) in South American Indians. Some peculiar reactions shown by products of locus B suggest the presence of antigens that are characteristic of the Mapuche. As for the other systems, the frequencies of R1 (Rh) and PGM1(1) were lower but those for r (Rh), GLO1 and Hp1 were higher than the averages obtained considering previous studies of this ethnic group. Other salient findings were the variability observed in the PGM2 and C3 systems, and the low prevalence of Bfs.     

Distribution of hereditary blood groups among indians in South America. VII. In Argentina

This seventh and last paper in a series on the distribution of blood groups among Indians in South America reports the findings among Amerinds in Argentina. Blood specimens were procured from putative full-bloods of the following tribes: 38 Diaguita (Calchaqui), 230 Mataco, 90 Chiriguano, 142 Choroti, 51 Toba, 120 Chané, 96 Chulupi (Ashluslay), and 178 Araucano (Mapuche). These 945 samples were tested for blood factors in the A-B-O, M-N-S-s, P, Rh-Hr, K-k, Lewis, Duffy, Kidd, and Diego systems. Serum samples were tested for haptoglobins and transferrins. Hemolysates prepared from whole blood were tested for hemoglobin types. The results are presented in tables as phenotype distribution and calculated allele frequencies. Locations of the populations from which blood samples were procured are shown on a map of North and Central Argentina. High frequencies are reported for the O allele. Allele frequencies are high also for M, s, R¹ (CDe), R² (cDE), k, Le^H and Fy. They are usually low or absent for alleles B, N, S, Mi^a, Vw, R^o (cDe), r (cde), K, Le¹, and fy. The Di allele ranged from 0.013 in the Araucano (Mapuche) to 0.192 in the Toba. Allele frequencies aberrant for Indians were observed more often in the Araucano (Mapuche) and Diaguita tribes, due probably to greater inflow of non-Indian genes into their gene pool and perhaps also to genetic drift in small inbred populations. Hp¹ allele frequencies varied from 0.43 in the Choroti to 0.80 in the Diaguita. All samples tested for transferrins except six contained the variant Tf C; the six were B₁ C present in samples from one Mataco and six Araucano persons. All the specimens tested electrophoretically for hemoglobin types contained only (A) as a major component.     

Cytochemical localization of blood group substances in human salivary glands using lectin-gold complexes

We investigated localization of blood group antigens and their related substances in human labial salivary and submandibular glands by application of a post-embedding cytochemical staining procedure using lectin- or glycoprotein-gold complexes. Surgical tissue was obtained from 10 patients. Blood group-specific lectins, such as Dolichos biflorus agglutinin or Helix pomatia agglutinin (group A-specific), Griffonia simplicifolia agglutinin-I B4 (group B-specific), and Ulex europaeus agglutinin I (group H-specific) could recognize A, B, and H antigens, respectively, only in mature secretory granules (mature SG), which were found preferentially in cells in the late phase of the maturation cycle. In immature secretory granules (immature SG), which were found in cells in the early or middle phase of the maturation cycle, no binding with these lectins was observed. The Golgi complexes and endoplasmic reticula also were not labeled with these lectins. In blood group O and B secretors, blood group antigens were uniformly distributed throughout all the mature SG examined. However, in blood group A secretors, the distribution was heterogeneous, i.e., in some granules only H antigen was demonstrated, whereas in others both A antigens and a small amount of H antigens were detected. Among the blood group-nonspecific lectins, wheat germ agglutinin (WGA) was found to bind more preferentially to immature SG than to mature SG. This was demonstrated irrespective of the blood group and secretor status of the tissue donor, except that in blood group A secretors WGA bound strongly to some mature SG which possessed A antigen. We discuss the significance of cellular and subcellular mosaic distribution of blood group antigens in connection with morphological differences of secretory granules and the maturation cycle of mucous cells.     

Distribution of blood groups in the East African Somali population

The results of a population survey on blood group distribution in Somalia, East Africa, are presented. Over 1,000 subjects were tested for most blood groups included in the survey. The sampling covered the whole country and was well in accordance with the population density as estimated by the recorded birth places of the subjects. Altogether, 46 blood group antigens were tested, partly common antigens within 11 of the major blood group systems, but also infrequent and very frequent antigens, some not tested before in Africa, were included. The results were compared with the available data for other related peoples and for populations from the same geographical area. The standard genetic distances were also applied in the comparison. The results suggest that only a minor component in the genetic constitution of the Somali population can be ascribed to Caucasian admixture. They are markedly in contrast with some earlier findings. During the survey we observed a previously unknown Rh gene complex occurring with a polymorphic frequency in Somalis.     

Complement C3 polymorphism in sixteen populations of Colombia. Results of “Expedicion humana”

Blood samples of 1.022 individuals of both sexes, collected during the “Expedicion Humana” programme. Twelve Indian group, two Negroes, two urban and one mestizo populations of Colombia were C3 typed. The results showed the urban samples have C3*F genotype frequencies (17 and 20%) similar to the Spanish population. The Negroe system, with lower C3*F gene frequencies (3.5 and 7%) also resembled their parental populations in Africa. The Mestizo population reported in this study showed a lower value of the C3*F gene (2.2%) than previously studied. suggesting that the degree of admixture may vary in different regions of the country. As regards the Indian populations, there was a wide range of variation of the C3*F gene (0–19%) many tribes being monomorphic. This gene may be a marker of recent admixture in Amerindians, but there may be other genetic factors, such as selection and inbreeding in maintaining high levels of genetic polymorphism in tribes such as Guahibo.     

Level of the A, B and H blood group glycosyltransferases in red cell membranes from patients with malignant hemopathies

Eight patients (4 suffering from acute myeloid leukemia) exhibiting a loss of ABO red cell antigens, as seen by a mixed-field reaction pattern in agglutination tests, were selected and examined for the level of the A, -B, -H blood group glycosyltransferases within membranes prepared from erythrocyte subpopulations (A or B positive and A or B negative red cells). A or B enzyme activities were largely decreased in membranes which had lost A or B antigens (A or B negative subpopulations) but were within normal level in membrane from cells which had not lost A or B antigens (A or B positive subpopulations). The H enzyme level which was frequently low in the serum was within normal limits in the membrane preparations examined. Since A or B negative subpopulations were normally glycosylated in vitro into A or B reactive structures, the results demonstrate that loss of A or B antigens is related to some alteration of the blood group gene products rather than to significant abnormalities of the membrane precursors.