Population genetic studies in three Chinese minorities

Three minority ethnic groups from China (Mongolians, Koreans, Zhuang) were examined with respect to the genetic markers GLO, GPT, ACP, ESD, 6-PGD, PGM₁ subtypes, C3, and TF. Significant variations were noted for the gene frequencies of GLO, GPT, ESD, sub PGM₁ between Zhuang and Mongolians; for GPT, ACP, ESD, sub PGM₁ between Zhuang and Koreans; and for GLO between Mongolians and Koreans.     

Polymorphic biochemical systems in a population of newly arrived inhabitants of the northeastern USSR. IV. The characteristics of the genetic structure of persons with chronic pathological processes

Analysis of properties of the genetic structure in 2847 individuals with different chronic diseases (1261 men and 1586 women) for 14 polymorphic loci (AcP, PGM1, PGD, GPT, GLO-I, EsD, AK, Pp, E2, Hp, Gc, Tf, AB0 and Rh) is presented. Discrepancy between the observed and expected phenotype frequencies for PGM1, GLO-I, EsD and AB0 loci is observed in a sample of patients Deviation from the expected frequencies is unequal for the representatives of different sex. Male and female portions of the sample differ significantly from each other for AcP, GPT, GLO-I, AK, EsD, Tf and AB0 loci, i. e. for 7 from 14 systems analysed. Highly significant differences between healthy and sick individuals have been detected: in general samples for 8 loci (AcP, PGM1, GPT, GLO-I, AK, Pp, Hp, AB0); in men for 8 loci (AcP, GPT, AK, PGD, Pp, Tf, AB0); in women for 5 loci (PGD, Pp, Gc, Tf, AB0). The difference between sick and healthy individuals of different sex is not only of qualitative but also of quantitative expression. The difference between sick and healthy men is much stronger, as compared to that between women. A decline in the average heterozygosity is noted in sick individuals. From the results obtained it is possible to conclude that the group of different pathologic conditions for the complex of genetic parameters differs significantly from that of healthy individuals. This may be a reflection of adaptation and disadaptation processes under the extreme environmental conditions.     

Genetic structure of the human population in the Po delta

The genetic structure of the population of Ferrara Province in the Po delta in Italy was investigated using chi 2 analysis, kinship analysis, analysis of correspondences, and geographical mapping of principal components of gene frequencies. chi 2 Analysis tests for Hardy-Weinberg equilibrium and for heterogeneity of gene and phenotype frequencies; kinship analysis tests for association between indicators of genetic and geographic proximity; analysis of correspondences relates localities and genetic systems in an eigenvectorial space; and geographic mapping displays the principal components of gene frequencies in the real space. In 1,364 adults in 26 residential units, seven presumably neutral isoenzyme systems were typed; ACP1 ESD, GLO I, GPT, PGD, PGM1 and PGP. It was found that average kinship for these neutral systems is correlated with geographic distance in this small area, but not as strongly as kinship for beta-thalassemia. A north-south gradient was observed for ESD. Analysis of correspondences indicated GPT, PGM1, and GLO I as the systems contributing most to differentiation within the province. The maps obtained from principal components of gene frequencies were consistent with the migrational history of the area.     

Population genetics of red cell enzymes in Pygmies: a conclusive account

In the course of a long-term research project, three groups of Pygmies and some non-Pygmy Central Africans have been examined for the following red cell enzyme markers: ACP, PGM1, PGM2, PEPA, PEPB, and PEPC, AK, ADA, and PHI. Several other red cell enzymes (ESD, CA1 and CA2, GPT, GLO, and DIA1) have been studied in only some of these groups. This paper reports all the information we obtained, including what we have already published. The following conclusions can be drawn from the whole body of data: (1) Gene patterns of Pygmies are those typical of other Africans (e.g.: lack of ADA2 and AK2 genes, low GPT2 gene frequency, polymorphism of the CA2 locus, and presence at polymorphic frequencies of PEPA2 allele. (2) Superimposed on this African genetic makeup, a number of Pygmy characters were identified, namely, a private polymorphism for the PGM26 Pygmy allele and possibly one for the PEPC2 allele, and particularly high ACPR and low PGM12 gene frequencies. (3) Some markers, especially PGM1 and ACP, turned out also to discriminate efficiently among different groups of Pygmies.     

Human red cell glutamic-pyruvic transaminase polymorphism in Serbia, Yugoslavia

The polymorphism of red cell glutamic-pyruvic transaminase (GPT) was studied in 277 unrelated voluntary blood donors from the population of Serbia (Yugoslavia). The following phenotype frequencies were observed: GPT 1 0.309, GPT 2-1 0.454 and GPT 2 0.206, while gene frequencies were: GPT1 0.556 and GPT2 0.454.     

A population study of leukocyte enzymes (GOT2, ME2 and PGM3) in Galicia (NW Spain)

Genetic variants of leukocyte mitochondrial glutamate oxaloacetate transaminase, mitochondrial malic enzyme and phosphoglucomutase locus III were studied in the Galician population. There was no significant heterogeneity between 8 Galician subpopulations. The gene frequencies in the total population were: GOT(2)2 = 0.025; ME(2)2 = 0.408; PGM(2)3 = 0.333. No rare variants were found.     

Human red cell glyoxalase I polymorphism in Denmark and its application to paternity cases.

Phenotypes of glyoxalase I (GLO) were determined in 1220 unrelated adults from all parts of Denmark giving the gene frequencies GLO1 = 0.4311 and GLO2 = 0.5689. The segregation of phenotypes in 59 families and in 455 mother-child pairs was consistent with the assumed autosomal codominant inheritance. The results of an investigation of 379 parternity cases with respect to exclusions of non-fathers by means of the GLO system are reported, and the application of the GLO system to paternity cases is discussed.     

Reduced Ovarian Glyoxalase-I Activity by Dietary Glycotoxins and Androgen Excess: A Causative Link to Polycystic Ovarian Syndrome

Glyoxalase detoxification system composed of glyoxalase (GLO)-I and GLO-II is ubiquitously expressed and implicated in the protection against cellular damage because of cytotoxic metabolites such as advanced glycation end products (AGEs). Recently, ovarian tissue has emerged as a new target of excessive AGE deposition and has been associated with either a high AGE diet in experimental animals or hyperandrogenic disorders such as polycystic ovarian syndrome (PCOS) in humans. This study was designed to investigate the impact of dietary AGEs and androgens in rat ovarian GLO-I activity of normal nonandrogenized (NAN, group A, n = 18) and androgenized prepubertal (AN) rats (group B, n = 29). Both groups were further randomly assigned, either to a high-AGE (HA) or low-AGE (LA) diet for 3 months. The activity of ovarian GLO-I was significantly reduced in normal NAN animals fed an HA diet compared with an LA diet (p = 0.006). Furthermore, GLO-I activity was markedly reduced in AN animals compared with NAN (p ≤ 0.001) when fed with the corresponding diet type. In addition, ovarian GLO-I activity was positively correlated with the body weight gain (r_s = 0.533, p < 0.001), estradiol (r_s = 0.326, p = 0.033) and progesterone levels (r_s = 0.500, p < 0.001). A negative correlation was observed between GLO-I activity and AGE expression in the ovarian granulosa cell layer of all groups with marginal statistical significance (r_s = −0.263, p = 0.07). The present data demonstrate that ovarian GLO-I activity may be regulated by dietary composition and androgen levels. Modification of ovarian GLO-I activity, observed for the first time in this androgenized prepubertal rat model, may present a contributing factor to the reproductive dysfunction characterizing PCOS.     

On the population genetics of the red cell glyoxalase I (GLO)

Summary The GLO phenotype distribution was studied in the population from the Rostock area (n=233). The gene frequencies of GLO alleles were estimated to be GLO¹=0.4249, GLO²=0.5751. The electrophoretic separation was achieved on horizontal starch gel.     

Glyoxalase I polymorphism in Belgium

The phenotypes of red cell glyoxalase I (EC 4.4.1.5) were determined by cellogel electrophoresis in 750 Belgian persons. The gene frequencies found were 0.432 for GLO1 and 0.568 for GLO2.     

A genetic study among the Lepchas of the Darjeeling area of eastern India

A total of 215 Lepchas (75 Buddhists and 140 Christians) living in the Kalimpong subdivision, Darjeeling district, West Bengal, India, were investigated for the distribution of haemoglobin, serum proteins and red cell enzymes. The gene frequencies were as follows: HbE = 0.02; Hp1 = 0.18; TfB = 0.007; TfDChi = 0.005; Gc2 = 0.22; pa = 0.18; pc = 0.03; PGM2(1) = 0.18; PGM6(1) = 0.002; PGDc = 0.17; AK2 = 0.02; GLO1 = 0.21. The most striking features were the complete lack of G6PD deficiency and very high frequency of PGDC. The remaining loci (serum albumin, lactate dehydrogenase, malate dehydrogenase and glucose-6-phosphate dehydrogenase, phosphohexose isomerase and superoxide dismutase) were monomorphic. The gene frequencies were similar in the Buddhist and Christian Lepchas. The observed average heterozygosity (9 loci) was 0.20 in the entire sample.     

Salivary enzyme polymorphisms (Set, Sgd and AMY1) in the Galician population

The genetic polymorphism of three salivary enzymes (esterase, glucose-6-phosphate dehydrogenase and amylase) was studied in 580 autochthonous individuals from the Galician population (North-West Spain). The gene frequencies obtained were: SetF = 0.4036, SetS = 0.5964; Sgd1 = 0.7828, Sgd2 = 0.2172; AMY11 = 0.9319, AMY21 = 0.0495, AMY31 = 0.0186. Evidence of genetic intrapopulational heterogeneity was found for Set and Sgd loci. An alternative method for AMY1 typing by means of isoelectric focusing is proposed which allows the use of long-term stored saliva samples.     

Genetic polymorphisms in southwest Alaskan Eskimos.

Allele frequencies of 28 genetic loci were determined in subsets (n ranged from 52 to 698) of a sample of Yupik-speaking Eskimos from southwestern Alaska. Five loci were monomorphic (Kell Kp (b+), ADA1, AK1, HBA, and PGDA). At the other loci, the most frequent alleles were AB00 (0.580), Fya (0.960), Jkb (0.513), Ms (0.333), CDe (0.591), ACPA (0.566), ESD1 (0.890), GLO2 (0.736), GPT1 (0.653), Hp2 (0.654), PGM1 (0.836), PGP1 (0.972), and UMPK1 (0.873). The most frequent immunoglobulin allotype Gm(1;21) occurred with a frequency of 0.829. The HLA alleles that occurred with highest frequencies were A24 (0.626), Bw48 (0.184), Cw3 (0.404), and DR4 (0.329). The average heterozygosity at all loci was 0.423. Based on the presence of the European allotype, Gm3;23;5,11,13, the proportion of European admixture in the Eskimo population was estimated to be 2.1%.     

中国20个民族中PGM_1及其亚型EsD、GLO1、AK、ADA和6-PGD酶型分布调查

调查了汉族、鄂伦春、赫哲、朝鲜、蒙古、羌、土家、苗、侗、畲、壮、纳西、傈僳、白、彝、景颇、哈尼、傣、维吾尔和塔吉克等20个民族的PGM_1及其亚型,EsD、GLO_1、AK、ADA和6-PGD等酶型的分布及基因频率。PGM_1及其亚型、EsD和GLO_1在中国各民族中是分布较好的,个人识别能力较高的酶。有12个民族查出有PQM_1~6基因,壮族的频率最高,PGM_1 6-1表型达4.15％。对在4174份血样中所检出的带有PGM_1~6基因的68份血样做亚型分析,在凝胶上PGM_1~6谱带均在同一位置上。EsD_1基因频率的总趋向是北方各民族高于南方。哈尼、傈僳、傣、纳西、畲、壮、侗和苗等民族EsD2-2表型达15％以上,哈尼族高达32.4％。GLO1~1基因频率塔吉克和维吾尔族为0.2927和0.2112,羌族为0.0583,其它各族在0.0714—0.1527。各民族AK~1、ADA和6-PGD~(?)基因频率均甚高。     

Linkage analyses of multiple endocrine neoplasia, type 2 (MEN-2) with 23 classical genetic polymorphisms

Linkage analyses were performed in a single large family with multiple endocrine neoplasia, type 2 (MEN-2) between 23 classical genetic polymorphisms and MEN-2. We exclude close linkage of the locus for MEN-2 with ABO, ACP1, BF, ESD, Fy, GALT, GLO1, Jk, MNSs, P, PGM1, Rh and TF, as well as absolute linkage with GPT. These results raise to about 6% the proportion of the genome that has been excluded in this one family. Somewhat positive lod scores were obtained for GC (0.92 at theta = 0), GPT (0.73 at theta = 0.1) and HP (1.49 at theta = 0.05); although not statistically significant, these findings suggest regions of the genome that warrant additional study.     

Genetic structure of the populations of native inhabitants in the northeastern USSR. V. The Chukot Evens

The genetic structure of two Chukot Evens subpopulations (314 individuals) for electrophoretic protein systems and taste sensitivity to PTC was studied. 17 of the 39 loci were polymorphic (43.59%). The following systems were completely monomorphic: diaphorase NAD H (Dia); glucose-6-phosphate dehydrogenase (G-6-PD); glutamatoxalate transaminase (GOT); carbonic anhydrase (Ca-1); catalase (Ct), lactate dehydrogenase (loci LDH-A and LDH-B); leucine aminopeptidase (Lap); malate dehydrogenase (MDH); purine nucleoside phosphorylase (PNP); superoxide phosphorylase (PNP); superoxide dismutase (SOD); phosphoglucomutase-2 (PGM2); cholinesterase (locus E1); red cell esterase (4 loci); albumin (Alb); hemoglobin (Hb A and B); ceruloplasmin (Cp); and blood, gren, using the standard method. The following systems were polymorphic: red cell acid phosphatase (AcP); phosphoglucomutase-1 (PGM1); 6-phosphogluconate dehydrogenase (PGD); glutamatepyruvate transaminase (GPT); glyoxalase-1 (GLO-1); esterase (EsD); adenilatkinase (AK); alkaline phosphatase (Pp); cholinesterase (locus E2); haptoglobin (Hp); transferrin (Tf); group-specific component (Gc) and ABO, MN, Lewis, P blood groups and taste sensitivity to PTC. The following allele frequencies for polymorphic loci have been detected: AKI = 0.994; GLO = 1I = 0.082; GPT1 = 0.653; AcPA = 0.400; AcPB = 0.599; AcPC = 0.001; PGDA = 0.944; PGM1(1) = 0.906; EsD1 = 0.897; E2+ = 0.048; HpI = 0.394; GcI = 0,919; Tfc = 0.987; r(O) = 0.669; p(A) = 0.184; q(B) = 0.146; M = 0.711; Le = 0.411; P1+ = 0.521; t = 0.295. The genetic structure of Chukot Evens population is significantly nearer to that of the other ethnic groups of the North-East, in comparison with the genetic structure of Evenks of the Middle Siberia.     

十一个少数民族红细胞酸性磷酸酶、酯酶D、6-磷酸葡萄糖酸脱氢酶及谷丙转氨酶的遗传多态性

用淀粉凝胶电泳法对我国十一个少数民族红细胞酸性磷酸酶(AcP_1)、酯酶D(EsD)、6-磷酸葡萄糖酸脱氢酶(6-PGD)及谷丙转氨酶(GPT)的遗传多态性进行了研究,共调查了2272人。研究结果表明:侗、回、白、土家、苗、彝、藏、满、瑶、哈尼和布依等民族AcP_1~B基因频率依次为0.7835、0.7958、0.8137、0.7750、0.7624、0.8038、0.8075、0.8035、0.7725、0.6488和0.6896;EsD~1基因频率依次为0.6418、0.7315、0.6005、0.6025、0.6411、0.6411、0.6558、0.6305、0.6020、0.6023和0.6368;6-PGD~A基因频率依次为0.9279、0.9381、0.9387、0.9150、0.9356、0.9014、0.7764.0.8818、0.9851.0.9233和0.9410;GPT~1基因频率依次为0.4075、0.5367、0.5049、0.4824、0.5322、0.6106、0.6313、0.6400、0.3985、0.4930和0.3976。并对发现的变异型进行了讨论。     

我国汉族人群的乙二醛酶Ⅰ遗传多态性

用琼脂糖平板凝胶电泳技术分析了我国六个城市的汉族共1238人的红细胞乙二醛酶I的遗传多态性。每个汉族人群的受检人数和GLO1*1基因频率分别为:郑州200人(0.1023),哈尔滨195人(0.1103),呼和浩特210人(0.1259),贵阳204人(0.1373),兰州210人(0.1476),西安199人(0.1508)。中国不同地区汉族人群之间的GLOI基因频率分布存在显著性差异,但这种差异明显小于中国不同少数民族之间的差异。     

Polymorphism of human red cell glyoxalase I in six ethnic groups of China

Summary A total of 1242 individuals from six Chinese ethnic groups were studied with respect to the glyoxalase I polymorphism using agarose gel electrophoresis. The GLO1^*1 gene frequency and the number of subjects tested in each population are as follows: Uygur 0.2466 (219), Hui 0.1621 (219), Dong 0.1866 (201), Bai 0.1921 (203), Tujia 0.1075 (200), and Maio 0.1600 (200). The differences in the GLO1 gene frequencies between some of these populations are significant.     

Genetic structure of the Mongols as derived from the ABO, MN, Rh, EsD, GLO1, PGM1, AcP, 6-PGD, Hp, Gc, Tf, C'3 and ChE2 loci

According to integral characterization of gene frequencies of the investigated loci AB0, MN, Rh, GLO1, PGM1, EsD, AcP, 6-PGD, Hp, Tf, Gc, C'3 and ChE2, Mongolian population has high level of polymorphism, with the exception of haplotypes R" (cdE) and Ry(CdE) at the Rh locus and TfB0-1 at the Tf locus. The data on biochemical and immunological polymorphic gene markers analysed in the population of Mongolia show that the Mongolians have some distinctive features, in comparison with the mean-in-the-world characteristics: high frequencies of the B genes at the AB0 locus; D, E, R1 and R2 at the Rh locus; GLO11, PGDc, TfDChi, E2(C5+), PGM1(1+); low frequencies of the genes A(AB0), R0(Rh), AcPc, Hp1, Gc2, C'3F, PGM 1(2-); the rest of the genes at the above-mentioned loci and the genes of the locus MN have the mean-in-the-world frequencies.