Isoelectric subtyping of the PGM1 in the Icelandic population

Phenotypes for the red blood cell enzyme phosphoglucomutase (PGM1) were determined by isoelectric focusing for a population of 2,501 Icelandic individuals. All ten phenotypes were observed, and the frequencies of four alleles at the PGM1 locus were as follows: PGM1 1+=0.6875; PGM1 1−=0.1124; PGM1 2+=0.1419, and PGM1 2−=0.0582. These results have been compared with those found in other northern European populations.     

Isoelectric focusing studies of human red cell PGM1 in Japanese, with special reference to the characterization of PGM17

The distribution of phosphoglucomutase (PGM1) subtypes in human red cells was determined by isoelectric focusing in 218 Japanese samples. Nine common phenotypes were observed corresponding to the following frequencies of the four alleles at the PGM1 locus: PGM11+ 0.6560, PGM11- 0.1170, PGM12+ 0.1674 and PGM12- 0.0505. In addition, a characterization of the PGM17 allele was performed. Our results obtained in the present study revealed the possibility that the PGM17 allele may be differentiated in the two alleles of PGM17+ and PGM17- through an investigation of isoelectric focusing.     

Phosphoglucomutase-1 subtypes: polymorphic occurrence of PGM1*7+ and geographical variation in Japan

The distribution of gene frequencies in the phosphoglucomutase-1 (PGM1) system was investigated in two Japanese populations from Yamaguchi (Western Japan) and Okinawa (Southern Japan) using an improved isoelectric focusing method permitting the successful detection of the most anodal variant PGM1 3+. PGM1*7+ occurred with a polymorphic frequency of 0.012-0.021. A difference in the gene frequency was observed between the two populations. In comparison with neighboring populations, the Yamaguchi population was similar to Mongolians and Koreans in North China, and Okinawa to Zhuang in South China.     

Worldwide distribution of phosphoglucomutase 1 (PGM1) polymorphism detected by isoelectric focusing: A review

This paper reports an exhaustive and updated compilation of phenotype and allele frequency data for phosphoglucomutase locus 1 (PGM1), obtained with an analytical isoelectric focusing technique, in human populations. The analysis of the PGM1 allele frequency distributions within and among the major human groups together with the degree of diversification evaluated by Wright's F_st, computed per allele and averaged over alleles, are also presented.     

Phosphoglucomutase (PGM1) subtypes in a Finnish population determined by isoelectric focusing in agarose gel

The red cell enzyme phosphoglucomutase first locus (PGM1) phenotypes of 639 adult Finns were determined by isoelectric focusing in agarose gel. All the ten commonly occurring phenotypes were detected and the frequencies of the four alleles at the PGM1 locus were as follows: PGMa11 = 0.5313, PGMa21 = 0.1800, PGMa31 = 0.2199 and PGMa41 = 0.0689. The PGM1 phenotypes of 221 mothers with 228 offspring were in accordance with autosomal codominant inheritance.     

Distribution of red cell phosphoglucomutase-1 subtypes in several Mongoloid populations of East Asia

The distribution of red cell phosphoglucomutase (PGM) subtypes was determined by starch-gel electrophoresis and isoelectric focusing in a group of 2,484 unrelated individuals from ten Mongoloid populations of East Asia. The sample comprised 998 Chinese from various localities--Singapore, 325; Malaysia, 270; Taiwan, 276; Hong Kong, 67; Fouzhou, 60--as well as 342 Koreans; 252 Filipinos; 529 Thais; 336 Malays, and 27 Indonesians. Altogether 15 phenotypes controlled by four common and five rare alleles at the PGM1 locus were observed in these populations. The frequency of the most frequent allele (PGM1+) varied from 0.56 to 0.74, with the highest frequency observed in the Singapore Chinese and the lowest in the Malays. Within the Chinese from different localities a significant degree of heterogeneity was observed at the PGM1 locus. The rare allele (PGM17)6 was observed only among the Chinese, Thais, and Malays, while the PGM1 was lacking in the Filipinos. A new allele with ahigh pI (6.5) was observed in a low frequency in all the populations but the Malays.     

Evidence for two additional common alleles at the PGM1 locus (Phosphoglucomutase-E.C.:2.7.5.1)

Summary Lysates of erythrocytes, leukocytes, lymphocytes, and extracts of sperms were investigated for the PGM₁ isozymes by three techniques: starch gel electrophoresis, high voltage thin-layer agarose gel electrophoresis, and thinlayer isoelectric focusing on polyacrylamide gel. On starch, only the well known common phenotypes 1, 2-1, and 2 were demonstrable. On agarose, different distances of the two main cathodal bands (a, b) among the phenotypes 2-1 were noted. Furthermore, on agarose, some types considered as homozygous on starch gel had a single, sharp banded pattern, while others were broad and blurred. Optimal separation was achieved by isoelectric focusing on polyacrylamide gel. In 291 leukolysates, 10 different phenotypes were identified. These are considered as gene products of 4 different common alleles at the PGM₁ locus as suggested by preliminary family investigations. In a random population from Hessen these four alleles, had the following frequencies: PGM ₁ ^a1 0.6186, PGM ₁ ^a2 0.1718, PGM ₁ ^a3 0.1426, and PGM ₁ ^a4 0.067. The preliminary designation a1, a2, a3 and a4 was chosen as the assumed polymorphism was demonstrated on acrylamide and agarose. The sum of the frequencies PGM ₁ ^a1 and PGM ₁ ^a3 (the gene products of which have apparently the same electrophoretic mobility on starch) is similar to the frequency of the old PGM ₁ ¹ allele (0.757) in Caucasoids, PGM ₁ ^a2 and PGM ₁ ^a4 have a frequency of 0.2388 corresponding with the frequency of the old allele PGM ₁ ² .     

Isoelectric focusing of human phosphoglucomutase: data on the distribution of variant phenotypes in three population sample from South West France

Leukocyte lysates obtained from blood specimens of individuals from Central and Western Pyrenean groups (Barèges and Basques) and from the population of Toulouse city have been typed for PGMa1 isozymes using isoelectric focusing (pH range: 3-9.5) in polyacrylamide gels. The determination of usual PGM1 phenotypes was simultaneously performed on red cells by starch gel electrophoresis. Significant differences were found between the three communities. In Barèges samples only 6 of the 10 phenotypes known at PGMa1 locus have been observed. In the same group, 36 mating types were studied in distinct families. The segregation of the phenotypes in an agreement with the codominant inheritance of the alleles. In Basques the gene frequencies showed intermediate values between Toulouse and Barèges. PGMa2 reaches a higher frequency in the latter community (0.306). In the Toulouse population sample the results are comparable with those previously published in western Europeans. The present data provide additional information on the usefulness of the new PGM system detected by isoelectrofocusing in human genetics.     

中国广东人红细胞PGM_1亚型遗传性多态现象

采用薄层聚丙烯酰胺凝胶等电聚焦技术,调查了中国(广东)406名无亲缘关系的正常人红细胞磷酸葡萄糖变位酶-1(PGM_1)亚型的遗传多态性。除了常见的10种亚型外,还发现了由一个新的变异型等位基因和常见的4个等位基因杂合产生的9例变异型。PGM_1位点的等位基因频率PGM_1~(1+)、PGM_1~(1-)、PGM_1~(2+)、PGM-1~(2-)和PGM_1~(V丰)(变异型等位基因)分别为0.5973、0.1256、0.1724、0.0936和0.0111;群体处于Hardy-Weinberg式平衡状态。变异型等位基因以多态频率出现,可能成为该群体的一个重要的遗传性特征。     

Isoelectric focusing of human red cell phosphoglucomutase

Summary A total of 637 individuals from the rural village of Keneba in The Gambia, West Africa, have been typed for red cell PGM using isoelectric focusing (pH 5–7) in polyacrylamide gels. Eight different phenotypes have been detected. The frequency of the four alleles at the PGM₁ locus was found to be PGM ₁ ¹⁺ 0.795, PGM ₁ ^1- 0.053, PGM ₁ ²⁺ 0.133, and PGM ₁ ^2- 0.019. A study of the PGM phenotypes in 89 families confirmed the simple Mendelian codominant inheritance of the four alleles. Comparative population data suggest that red cell PGM typing by isoelectric focusing might prove to be a useful genetic marker in anthropological studies.     

Some genetic implications of isoelectric focusing of human red cell phosphoglucomutase (PGM1) and serum protein group specific component (Gc): genetic diversity in the populations of Himachal Pradesh,India

For the study of group specific component (Gc) and phosphoglucomutase (PGM1) polymorphism, isoelectric focusing was performed on eleven tribal and non-tribal populations of Himachal Pradesh, India. They were chosen to illustrate interregional and intraregional variations. The subtype frequencies of these two systems showed clear differences in the genetic constitution of these populations of Himachal at both levels. There is a large increase in the mean heterozygosity (H) for each system by isoelectric focusing over that shown by electrophoresis. Discriminant and distance analyses both suggest that the subtype frequencies provide greater potential for the study of genetic diversity among populations. The data on these additional alleles found by isoelectric focusing are examined for some of their genetic and anthropological implications.     

Population genetic studies of the Aka Pygmies (Central Africa)

Summary Blood samples collected in a single Pygmy tribe, the Aka, living in Bokoka district (Central African Empire) were investigated with respect to the phenotype and gene frequencies of the following 12 enzyme systems: acid phosphatase, adenosine deaminase, adenylate kinase, carbonic anhydrase, esterase D, glucose-6-phosphate dehydrogenase, malate dehydrogenase, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, superoxide dismutase and serum cholinesterase variants (locus E₁ and E₂). The data obtained in the study of genetic polymorphisms of this isolated and inbred population show a specific pattern with the following characteristics: the very low frequency of PGD^B and p^a alleles; the existence of two rare PGM variants at the PGM₂ locus, typical PGM ₂ ^6Pyg (4.2%) and PGM ₂ ⁹ (0.2%); the high frequency of the p^r allele (10.8%) and CA _II ² (8.22%) and ESD² genes (18.4%). Furthermore, at the G6PD locus four distinct alleles have been found: the negroid GDA-(4%) and GdA+(16%), the common GdB+(79.2%)-,and the rare Gd+^{Ibadan Austin} (0.7%). Cholinesterase typings disclosed the presence of the uncommon E ₁ ^f and E ₁ ^s genes distributed within a single breeding unit. The results are compared with other data previously reported on South African Khoisan and some Negroid populations; the particular genetic background of Pygmies is discussed.Otherwise known as Bi Aka     

Phosphoglucomutase-1 polymorphism among Chinese in Taiwan.

Phosphoglucomutase-1 (PGM1) phenotyping of 1,128 Chinese blood donors was performed by thin-layer isoelectric focusing on agarose. The PGM1 gene frequencies were: 1A, 0.6005; 1B, 0.1500; 2A, 0.1510; 2B, 0.0973, and rare variants, 0.0058. The rare variants found in this series were PGM1 W21, W2, W3, W6 and W9 (or W10) with PGM1 W21 being the most common variant among Chinese with a phenotype frequency of 0.8%.     

我国几个民族中毛发根葡糖磷酸变位酶—1的亚型分布

本文报道了利用等电聚焦的方法,从毛发根鞘细胞分析了我国汉、苗、土家、撒拉、土、达斡尔和赫哲等民族的葡糖磷酸变位酶-1(PGM_1)10亚型的分布,并且与其他人群的基因频率作了比较。     

Phosphoglucomutase phenotyping among Chinese in Taiwan.

Phosphoglucomutase 1 (PGM1) phenotyping was performed in 1,128 Chinese blood donors by thin-layer isoelectric focusing on agarose. The PGM1 gene frequencies were as follows: 1A, 0.6005; 1B, 0.1500; 2A, 0.1510, 2B, 0.0973; variants, 0.0058, with W21, 0.0040. The variants found in this series were PGM1 W21, W2, W3, W6 and W9 (or W10) with PGM1 W21 being the most common variant among Chinese, having a phenotype frequency of 0.8%.     

Enzyme polymorphism in placentae from northern Greece

Variations at the PGM1, GOTm, GOTs, and EsD loci were studied in placental samples from Northern Greece. The gene frequencies of GOTm and GOTs were found to be comparable with frequencies reported in other Caucasian populations. The frequencies of the EsD and PGMa11 alleles, however, were lower in Northern Greece than in other European populations.     

中国人红细胞PGM(PGM位点1)多态性的等电聚焦电泳研究

用等电聚焦电泳技术对北京地区180人进行红细胞葡萄糖磷酸变位酶(PGM_1)遗传表型的分析鉴定。共检测出九个PGM_1亚型,可能由于检测样本数还不够多,目前尚未检测到PGM_1 2-亚型。根据测定结果,观察了我国人群中PGM_1亚型的分布情况,并计算出决定PGM_1亚型的四个等位基因频率为:PGM~(1+)_10617,PGM~(1-)_1 0.100,PGM~(2+)_1 0.236,PGM~(2-)_10.047。采用等电聚焦电泳可将PGM_1的个体识别能力(DP值)由用普通淀粉胶电泳分型的0.558提高到0.742。结果与世界上其他国家和地区人群相似,PGM_1在我国人群中同样是一个个体识别能力很高的多态性酶类。     

Gene pool of Dagestan ethnic groups: polymorphism of classical gene markers in the Darghin ethnic group

The work is part of a study of the gene pool for Daghestan ethnic groups. In total, 38 alleles and eight genotypes were studied at 14 loci (AB0, Rhesus, P, Lewis, Kell, HP, GC, C'3, TF, 6-PGD, GLO1, ESD, ACP, and PGM1) of immunogenetic and biochemical polymorphic gene systems. A high frequency of allele d of the Rhesus system was observed in all populations examined (0.399-0.474). Among the rare haplotypes of the Rhesus system, we observed CDE in the Degva population, Cde in the Sergokala and Degva populations, and cdE in the Sergokala and Vanashimakhi populations. The typical Caucasian ACP1c allele of the ACP1 locus, which is rather uncommon, was observed at a relatively high frequency in three (Segokala, Vanashimakhi, and Gubden) of the four local populations under study. In the Lewis system, a high frequency of the Le(a+b+) phenotype, which is characteristic of early childhood, was detected in the adult populations of Sergokala and Degva. The rare PGM1v allele of the phosphoglucomutase 1 system (PGM 1) was additionally observed in the Sergokala population. Statistical analysis identified 19 cases where the observed phenotype frequencies significantly differed from the frequencies expected from the Hardy--Weinberg equilibrium.     

Serum protein polymorphisms in a Liberian population

Serum protein variations were studied in a Liberian population living in Buchanan town. Of the alpha 1-antitrypsin genes only M1 and M3 were polymorphic. The frequencies of the haptoglobin and Gc genes were in accordance with earlier known estimates in African populations. There was, however, a relatively low frequency of Hp 0 which may be related to the low malarial parasite prevalence in this group. The transferrin C2 gene was found in a significantly lower frequency among Liberians compared to European and Asiatic populations. A new transferrin variant was observed by isoelectric focusing. This variant could not be identified with conventional starch or polyacrylamide electrophoresis.     

Blood genetic markers in the Chinese of two eastern provinces

A total of 205 Han Chinese from two eastern provinces (155 from Fujien and 50 from Hopeh) were tested for the distribution of six blood groups--A1A2BO, MN, Rhesus (CcDEe), Lewisa, Kell (Kk) and Fya--four serum proteins--albumin and haptoglobin types; transferrin and group-specific component subtypes--haemoglobin, and twelve red cell enzyme systems--glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, lactate and malate dehydrogenases; acid phosphatase, esterate-D, glyoxalase I, adenylate kinase, glucose-phosphate isomerase, phosphoglucomutase (locus 2), and superoxide dismutase types; and phosphoglucomutase (locus 1) subtypes. The frequencies of blood groups were more or less within the reported frequencies in the Chinese. However the frequency of le was much lower in the present series. The Chinese are characterized by low p1, Ro, k, le, and a high Fya in general. P2 was lacking in the Chinese. There were some differences in the blood group frequencies in the two provinces. The frequencies of Hp alleles; Tf and Gc subtypes show characteristic mongoloid features with high Hp1, TfD, and GcIF. The frequency of TFC2 was higher in the Fujien province than that in Hopeh. At the hemoglobin locus only one Hb AD was detected, while the frequency of the beta-thalassemia trait was 0.03. No red cell G6PD deficiency or variant was detected. The distribution of red cell enzymes showed Mongoloid characteristics with low PGDC, AK2, ESD1, GLO1, and higher pa. PGM1 subtypes also had Mongoloid characteristics with lower PGM2+ and higher PGM2-. The phenotypic distribution of all the fifteen polymorphic loci was at Hardy-Weinberg equilibrium in both the Chinese populations.