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.     

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.     

The plasminogen polymorphism in South African Negro populations: genetics and anthropogenetics

Summary Genetic polymorphism of human plasminogen (PLG) was investigated in 1252 unrelated individuals from eight South African Bantu-speaking Negro tribes. PLG phenotypes were determined by isoelectric focusing (pH 3.5–9.5 and 5–8 gradients) of neuraminidase-treated samples and subsequent detection by caseinolytic overlay or immunoblotting with specific antibody. No significant difference in the distribution of PLG alleles among the eight ethnic groups was observed. The combined allele frequencies of the common alleles in South African Negroes were 0.6977 for PLG*A, 0.2736 for PLG*B. In addition, six rare alleles were seen: PLG*A3, *A1, *M2, *B1, *B2, *B3. The rare variant PLG*B2 was proven to segregate by autosomal Mendelian inheritance in a family. The combined frequency for the rare alleles was 0.0287. The distribution of phenotypes in the total population sample was found to be in Hardy-Weinberg equilibrium. A striking difference in PLG allele distribution between Negroes from South Africa and published Negroid frequencies from North America could be observed. This difference was also seen in comparison with Mongoloid populations; in contrast, PLG frequencies for South African Negroes were similar or almost identical to known Caucasoid distributions.     

Serumprotein polymorphisms in Iran

Summary The results of a population genetic investigation on Iranians are given and compared to the results obtained on other populations from Southwestern and Southern Asia. Our total material from Iran comprises n=1020 nonrelated male and female individuals of different age. The following serum groups have been typed: Hp, Gc, Gm, and Inv. In general there exist no remarkable age or sex differences in the distribution of phenotypes and alleles (the only exception: sex differences in the distribution of the Gm (7)-phenotype). The regional distribution of phenotypes and alleles yield no marked differences, too, apart from the Invphenotypes, however. For the total material of Iran the following alleles frequencies could be calculated: Hp¹=0.3045, Hp²=0.6595, Gc²=0.3405; Gm¹=0.1780, Gm^1,2=0.0537, Gm^1,5=0.0632, Gm⁵=0.7051. The Gm (7)-phenotype turned out to be 36.6%; the Inv (1)-phenotype amounts to 25.6%. Comparing with other populations, especially Pakistani and Indian samples, some heterogeneity in the distribution of phenotypes and alleles within Southwestern and Southern Asia was to be demonstrated. Some distributional trends of alleles frequencies shall be mentioned here: the increase of Hp², Gc¹, and Gm¹ alleles from West towards East, and in the opposite direction the decrease of Hp¹, Gc², and Gm⁵ alleles. Selective acting forces are supposed to be most important factors for this. D77     

Immunoglobulins in the Eastern Carolines

Serum samples from Micronesian populations on the Pingelap, Mokil, Ponape and Kusaie islands were tested for the immunoglobulin G (IgG) allotypes, Gm (1, 2, 3, 5, 6, 13, 14, 21), and for Inv (1). All four populations have the Gm phenogroups, Gm^1,21, Gm^1,2,21, Gm^1,3,5,13,14, and Gm^1,5,6. The Ponapeans have Gm^1,5,13,14 also. Pedigree analysis shows that the Gm^1,5,6 phenogroup in the Pingelap and Mokil populations is derived from the single offspring of a member of a crew of a whaling ship and that the Gm^1,2,21 phenogroup was introduced by three non-native individuals. The Gm allotypes indicate that the Ponapean and Kusiean populations also have phenogroups from other races, and historical data show that there has been adequate opportunity for this to have occurred. Only the phenogroups Gm^1,21 and Gm^1,5,13,14 appear to be endemic to eastern Micronesia.     

Gm and Km immunoglobulin allotypes in Reindeer Chukchi and Siberian Eskimos

Summary Blood samples from 403 Reindeer Chukchi of inland Chukotka, and 100 samples from Chaplin Eskimos of the Chukot Peninsula were tested for G1m (z,a,x,f), G2m (n), G3m (g,b0,b1,b3,b5,s,t), and Km (1) allotypic determinants. An apparent affinity between the Chukchi and the Eskimos could be inferred from similar frequencies of the two common haplotypes, Gm^za;g and Gm^za;bst, and from very similar frequencies of the Km¹ allele. However, none of the Eskimos had Gm^zax;g, though it occurred at a low or moderate frequency in the five Chukchi populations studied. It is assumed that Chukchi can be distinguished from adjoining Eskimos by the same G1m (x) outlier, that has been considered as a taxonomic marker useful in differentiating between Eskimos and American Indians. Comparison of North Asian and North American populations with respect to the array and frequencies of Gm haplotypes and the Km¹ allele, supports the hypothesis of a nonrandom distribution of the Gm^za;bst and Km¹ on both sides of the Bering Strait.     

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 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 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.     

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.     

Gammaglobulin allotypes of Melanesians from Malaita and Bougainville, Solomon Islands

Data are presented on the distribution of the Gm and Inv allotypes of human IgG in samples from Melanesian populations, three from Malaita and three from Bougainville of the Solomon Islands. The Lau from Malaita are polymorphic for the phenogroup, Gm^{1, 2, 5, 13, 14}. This phenogroup is not known to be polymorphic in any other population of the world. The Inv¹ frequencies of the populations from Malaita are lower than the lowest observed in samples from Bougainville, and this may indicate an extension of the north-south cline for Inv¹ previously reported for Bougainville. Samples from Aita in the north of Bougainville and from the Nagovisi in the south confirm the existence of the north-south cline for Inv¹ in Bougainville and suggest the presence of a Gm cline.     

Distribution of corticotropin-releasing hormone promoter polymorphism in different ethnic groups: evidence for natural selection in human populations

 The regulatory region of the corticotropin-releasing hormone (CRH) is highly conserved across species and plays a crucial role in the response of the organism to stress. Release of CRH initiates a cascade of events leading to the release of cortisol and the regulation of inflammatory and immune events. In this report we describe polymorphisms in the 5′ regulatory region of the CRH gene in humans. We studied the distribution of CRH alleles in three different African populations, in white UK Caucasoids, and in a Chinese population. In the African and UK populations we found three new polymorphisms which cosegregated, resulting in two alleles, A1 and A2. Gene frequencies for A1 and A2 were extremely divergent between the African and the UK populations. The African A1 frequency ranged from 0.27–0.3, while the UK Caucasoid frequency was 0.9. Compound alleles could be assigned by taking into account the previously described biallelic polymorphism at position 225 in the CRH promoter. The A2B1 compound allele is the commonest in contemporary African human populations (allele frequency range 0.44–0.61) and was the only allele observed in a population of chimpanzees from Sierra Leone. Wright's F_ST for the A2B1 allele over the four sampled populations was 0.612, a value exceeded in human populations only by loci which have apparently been subject to natural selection. Taken together, these findings support A2B1 as the ancestral allele and suggest that the CRH genomic region may have been subject to strong disruptive selection throughout human evolution. Received: 29 October 1998 / Revised: 24 March 1999     

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.     

Observations on the distribution of the Gm- and Inv-groups in Hungary

Summary The authors report the distribution of Gm- and Inv-groups in Hungary. In our total material of 378 males and females of different age, the frequency of the following Gm-phenotypes turned out: Gm (1, 2, 4, 5, 10)=4.1%, Gm(1,-2, 4, 5, 10)=25.3%, Gm(1,-2,-4,-5,-10)=3.4%, Gm(1, 2,-4,-5,-10)=0.4%, and Gm(-1,-2, 4, 5, 10)=66.8%. The alleles frequencies have been calculated to be Gm¹=0.1622, Gm^{1, 2}=0.0228, Gm^{4, 5, 10}=0.8150. Observed and expected Gm-phenotypes frequencies are in good agreement under the assumption of the 3-alleles-model Gm¹, Gm^{1, 2}, Gm^{4, 5, 10}. The Invphenotypes frequencies came out to be: Inv(1,-2)=0.5$, Inv(1,2)=8.2%, and Inv(-1,-2)=91.3%.Among our Hungarian samples no significant differences were found, neither in the distribution of Gm-nor Inv-phenotypes and alleles. There exist no significant differences in the distribution of Inv-groups between our Hungarian sample and two German samples, but the Hungarian sample differs clearly from Czechoslovakian and Yugoslavian ones in the distribution of the Gm-phenotypes.Supported by a grant from the Caisse Nationale de Sécurité Sociale.Attaché de Recherche á l'I.N.S.E.R.M.     

Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic variants and the PvuII polymorphism in Southern African populations

Summary Southern African Bantu-speaking negroid and San populations were examined with regard to the glucose-6-phosphate dehydrogenase (G6PD) PvuII restriction fragment length polymorphism (RFLP) showing alleles of 4kb and 1.6 kb, called Type 1 and Type 2, respectively. The standardized disequilibrium coefficient for the electrophoretic G6PD types and PvuII alleles in the Southern African population was 0.28. The molecular lesion causing the Gd^A mutation is the same in the San and Southern African negroid populations. Gd^A chromosomes are found in association with both the Type 1 and Type 2 alleles, whereas none of the 62 Gd^B chromosomes from the Southern African populations had the Type 2 allele. Five of the 44 Gd^B chromosomes studied in the American Black population had the Type 2 allele, indicating that the Gd^B allele in the two populations may have different origins. The presence of all 3 A^– deficiency mutations in the G6PD A gene, in a region where the ancestral population was thought to have predominantly G6PD B, may be explained by their origin in Africa after the divergence of the races.     

The distribution of Gc subtypes among the Mongoloid populations

The polymorphism of Gc (group-specific components) has been investigated for a series of 3,160 individual samples from 11 Mongoloid populations in Asia and North and South America by isoelectric focusing on polyacrylamide gels. The samples fall into six Gc phenotypes which can be explained by the three common alleles, Gc^1F, Gc^1S, and Gc², together with several variant phenotypes explained as the heterozygotes for the three common alleles. The distribution of Gc^1F suballele appears to be considerably different from population to population among Mongoloids, ranging from 0.105 (Machiguenga Indans, Peru) to 0.609 (Kadazan, Borneo). A clear geographic cline from Southeast Asia into South America in Gc^1F allele was observed in the populations. In general, Gc^1F allele frequencies are lower in European populations and higher in African populations. The range of variability in the Gc^1F values observed among the Asiatic populations is between the Africans and the Europeans.     

Polymorphism of the dopamine D4 receptor (DRD4) and serotonin transporter (5-HTTL) gene promoter regions in african tribes of Hadza and Datoga

Molecular genetic analysis of the allelic variants of the DRD4 and 5-HTTL gene promoter regions was performed in African tribes of Hadza and Datoga, characterized by different levels of socially acceptable aggression. It was demonstrated that Hadza and Datoga people differed in the structural organization of one of the 5-HTTL alleles (extra long allele xL). Analysis of the allele length polymorphism of both genes showed that in the Hadza and Datoga samples examined, variation parameters, as well as the genotype and allele frequency distribution pattern were almost the same. At the same time, analysis of the SNP polymorphism at the A/G substitutions of the 5-HTTL locus revealed a substantial decrease of the active allele L _A frequency in the population of Hadza compared to the population of Datoga (χ² = 3.77; d.f. = 1; p = 0.052).     

Placental alkaline phosphatase polymorphism in some Italian populations

Summary Gene frequencies of Pl alleles for alkaline phosphatase of human placenta have been studied in the populations of Rome and L'Aquila. The latter represents a mixed sample of descendants from ancient Italic populations which in the last 20 centuries have been free from significant immigratory influx.The Pl gene frequencies in the two Italian populations are significantly different, the Pl ^s ₁ frequency being lower and Pl ^f ₁ frequency higher in the population of L'Aquila as compared to the population of Rome. The gene frequency of the 3 common Pl alleles in the population of Rome are quite similar to that found in some Northern-European populations. The frequency of the Pl ^s ₁ allele observed in the population of L'Aquila is the lowest (and correspondingly that for Pl ^f ₁ allele is the highest) amongst all populations studied so far.     

Apolipoprotein E polymorphism in Southern Iran: E4 allele in the lowest reported amounts

Background: Apolipoprotein E (apoE) with three major alleles E2, E3 and E4 is one of the critical genes in lipid metabolism. Common apoE alleles are in association with an increase in risk for central nervous and cardiovascular diseases such as Alzheimer’s disease, dementia, multiple sclerosis, atherosclerosis, coronary heart disease, hyperlipoproteinemia and stroke. ApoE3 is known as the most frequent allele in all populations, while association of apoE gene polymorphism with reported diseases have mostly been related to other two major alleles especially apoE4. Objective: To determine of apoE alleles frequencies in Southern Iran and comparison of those frequencies with other populations. Methods: DNA was extracted from the whole blood of 198 healthy unrelated candidates from population of Fars Province, Southern Iran, for apoE genotyping who were checked up by a physician. The frequencies of apoE alleles were compared with other populations by χ² test. Results: The frequencies of E2, E3 and E4 were 0.063, 0.886 and 0.051 respectively. These values were similar to those reported from populations of Kuwait, Oman, Lebanon, India, Turkey, Greece, Spain, Sardinia Islands of Italy and two Iranian populations but were different from South of Italy and Caucasians in other Europe regions, American, American-Indian, African, East Asian and Saudi populations (P < 0.05). Conclusion: The frequency of E4 allele as a genetic risk factor for some multifactorial diseases in the population of Southern Iran is in the lowest reported amounts in the world. Iranian population has Caucasoid origin but differs from some Caucasian populations in Europe and America. The results of present study are in agreement with the historical evidences which show admixture of Iranian population with other populations and some studies based on genetic polymorphisms in the population of Southern Iran.     

DNA sequence variation of the human ABO-secretor locus (FUT2) in New Guinean populations: possible early human migration from Africa

We have investigated the allelic polymorphism of the human ABO-secretor locus (FUT2) in 90 unrelated Papuan-speaking New Guineans (Dani group), 101 admixed New Guineans from Irian Jaya, Indonesia, and 32 New Guineans from Papua New Guinea by DNA sequencing analysis. Whereas the total frequency of various nonfunctional alleles at the FUT2 locus in the worldwide populations so far examined is around 0.5, we have found only one individual heterozygous for a nonfunctional allele in the 90 Dani group members and a frequency of nonfunctional alleles of 0.1–0.2 in the admixed New Guineans. Admixed New Guineans had the Asian-specific null allele se³⁸⁵ and the characteristic nonfunctional allele se^del2 found in Polynesians. In addition, both New Guinean populations had unique functional alleles (Se³⁷⁵ and Se⁴⁰⁰) with high frequencies (0.11–0.37); these are absent in other populations of the world except for African and Samoan populations. The Se³⁷⁵ allele had G and C at positions 1009 and 1011 of the 3' untranslated region, respectively, whereas all other FUT2 alleles found so far in the world, except for se⁴²⁸, have 1009A and 1011T. The Se³⁷⁵ allele found in Africans has 1009G and 1011T, or 1009A and 1011T. Corresponding positions of nonhuman primates have G and C, suggesting that the Se³⁷⁵ allele is one of the ancestral alleles, reflecting the early human migration from Africa to New Guinea and the long isolation of Dani populations from neighboring populations.