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.     

Human phosphoglucomutase locus 1: red cell enzymatic activities associated with common isoelectric focusing phenotypes

Human phosphoglucomutase activity has been determined in red blood cells obtained from 348 unrelated subjects. The mean activities attributed to the four common PGM1 alleles, expressed as micromoles of G6P produced per gram of Hb per hour were 53 for PGMa31, 60 for PGMa11, 61 for PGMa41 and 72 for PGMa21. The relative amount of variation associated with the electrophoretic polymorphism was estimated as 24%.     

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.     

Investigations on the PGM 1 a polymorphism (phosphoglucomutase-EC 2.7.5.1) by isoelectric focusing

Summary The determination of phosphoglucomutase (PGM₁) phenotypes was performed by isoelectric focusing on samples from 1678 unrelated individuals from Hessen, Germany. Ten common phenotypes are considered as gene products of four alleles at the PGM₁ locus with the following frequencies: PGM ₁ ^a1 =0.6305, PGM ₁ ^a2 =0.1844, PGM ₁ ^a3 =0.1320, and PGM ₁ ^a4 =0.0530. Twenty-two different mating types were observed in 113 families with 202 children. The segregation of the phenotypes in the offspring supports the assumed way of autosomal codominant inheritance. The example of a silent allele (PGM ₁ ⁰ ) as well as a rare variant (PGM ₁ ⁷ ) is reported.     

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.     

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.     

Isoelectric focusing of human red cell phosphoglucomutase (PGM1). Phenotype distribution in the population of Tuscany and two hereditary variants

Summary Phosphoglucomutase (PGM₁) phenotypes were determined in a population sample of Tuscany, Italy, by isoelectric focusing. The frequencies observed for the four alleles are: PGM ₁ ¹⁺ =0.6012, PGM ₁ ^1- =0.1059, PGM ₁ ²⁺ =0.2495, PGM ₁ ^2- =0.0434. Two variants were detected and it was possible to study the parentage of both of them. The pedigree of the propositus of the first variant shows that the variant occurs in combination with the common alleles PGM₁ 1+ and PGM₁ 2+ and that it has an autosomal dominant inheritance. The second variant has been shown to be a product of the PGM₂ locus, although its PAGIF pattern is included between 2- and 1+ isoenzymes.     

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.     

A contribution to the phenotype distribution of phosphoglucomutase in Czechoslovakia (the district of České Budějovice)

Summary A population sample of 416 unrelated donors from eské Budjovice (southorn Bohemia) was investigated for the phenotypes of phosphoglucomutase (PGM). The calculated frequencies of the allelles PGM ₁ ¹ and PGM ₁ ² , 0.770 and 0.230, respectively, correspond to the expected frequencies of the phenotypes PGM 1=0.593, PGM 2-1=0.354, and PGM 2=0.0529. No rare phonotype was detected.     

Phophoglucomutase first locus polymorphism as revealed by isoelectric focusing in Southern Africa

Eleven Southern African populations (representing European, Asian and Negroid populations) have been typed for the first locus phosphoglucomutase (PGM1) using isoelectric focusing (pH range 5.0-8.0) in acrylamide gels. The gene frequencies of the four common alleles at this locus in these populations were compared to those found previously in European and Negroid populations. Marked differences in gene frequencies were observed: Negroes have a lower PGM1(2-) compared with Caucasoids due to a lower PGM1(2-) frequency, Indians a relatively high PGM1(2) due to a higher frequency of the PGM1(2+) allele. The Afrikaans and Ashkenazim do not differ appreciably from their European counterparts. The appearances of the rarer PGM1(6) and PGM1(7) alleles on isoelectric focusing are described and some kinetic properties examined. The PGM2(2-1), or 'Atkinson' phenotype, can also be detected with this technique.     

Genetic markers and insulin-dependent diabetes mellitus (IDDM) in Sardinia.

The distributions of some genetic markers in 106 Sardinian individuals with insulin-dependent diabetes mellitus (IDDM) and in a control sample of 186 nondiabetic Sardinians were studied. A strong association of IDDM with some phenotypes of ACP, PGM1, C3 and GC genetic markers was found. In the IDDM patients there is a significant increase of ACP B, ACP B-C, PGM1 1S-1F and GC 1S-2 phenotypes. Particularly the individuals with the ACP B, PGM1 1S-1F and GC 1S-2 phenotypes show the highest values of the relative risk (RR) and the attributable risk (AR) and seem to be more susceptible to IDDM disease.     

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 .     

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。     

Eight polymorphic blood protein systems in Arab horses from Turkey]

Analysis of the blood protein system was used to study the genetic composition of Arabian horses. Biochemical markers of eight polymorphic loci (Tf, Al, Es, AlB, Gc, Hb, PGD, and PGM) were electrophoretically identified in blood samples. A total of 43 phenotypes were identified for these polymorphic systems. The Tf, Hb, and Es loci appeared to be more polymorphic than the other loci studied. Statistically significant differences between the observed and expected genotypic frequencies were found for the PGD and PGM loci (P < 0.05 and P < 0.01, respectively). Individual allele frequencies, observed and expected phenotype frequencies, and the average heterozygosity were estimated for each polymorphic locus.     

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。     

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。     

Phosphoglucomutase phenotypes and prenatal selection. Studies of spontaneous and induced abortions.

The PGM1 and PGM3 phenotypes were examined in extracts of chorionic tissue from 97 spontaneous and 266 induced abortions. Contamination by maternal tissue or blood cells was shown to be insignificant. A positive association was found between the PGM11 and PGM13 genes. No significant differences in phenotype distributions were found between the population of spontaneously aborted fetuses and the normal fetal or adult populations. Hence it was concluded that there is no evidence so far for prenatal selection operating in the PGM1 and PGM3 polymorphisms.     

Subtyping of human red cell phosphoglucomutase locus 1 (PGM1) polymorphism: a third PGM1(1) allele common among Twa Pygmies from North Rwanda.

Seventy-eight Twa Pygmies from North Rwanda have been subtyped by acid starch gel electrophoresis for the polymorphism at the phosphoglucomutase locus 1 (PGM1). A third common PGM1(1) allele that has been named PGM1(1Twa) was detected in heterozygous association with both PGM1(1S) and PGM1(1F) alleles. The PGM1(1Twa) product is faster than those of the other two PGM1(1) alleles and has the same electrophoretic mobility as the rare PGM1(6) enzyme. The frequency of PGM1(1Twa) was found to be 0.45.     

Biochemical polymorphisms in South African freshwater fish. Isoenzyme patterns in fish of the families Cyprinidae and Salmonidae

Isoenzyme patterns were studied in local populations of the carp (Cyprinus carpio) and the bream (Sarotherodon mossambicus) of the Cyprinid family, and in the trout (Salmo giardneri) of the family Salmonidae. Homogenates of heart muscle extracts were used in the identification of PGI, NADP-IDH, PGM and 6-PGD. Polymorphisms found and gene frequencies obtained are discussed separately for each enzyme and species or population. In the bream, variation was found only at the PGI locus. In the carp only the PGM locus was polymorphic whereas both PGM and IDH showed variation in the trout. The variation at the PGM locus in the trout cannot support the three locus model suggested elsewhere and clearly indicates a single locus for the monomeric enzyme. The large variety of NADP-IDH types in trout not only illucidates the complexity of this locus but confirms a disomic mode of inheritance. Genetic differences in the trout populations could be related to possible advantages for management purposes.