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。     

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。     

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.     

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-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.     

PGM1 and Gc subtype gene frequencies in a California Hispanic population.

The gene frequencies of the subtypes of the Gc (group-specific component) protein and PGM1 (phosphoglucomutase) enzyme systems have been determined by means of isoelectric focusing for a California Hispanic population (no. = 404). The Gc subtyping, done by immunofixation on a polyacrylamide gel, gave the following results: 1s = 0.491; 1f = 0.288; 2 = 0.218; variant = 0.0025. The PGM subtyping, done on agarose gel, gave results as follows: 1+ = 0.502; 1- = 0.266; 2+ = 0.128; 2- = 0.104. Because the gene frequencies for Hispanics in both these systems are relatively evenly balanced, the systems are of great value in Hispanic paternity investigations. The average power of exclusion is calculated to be 34.4% (Gc subtyping) and 39.8% (PGM1 subtyping).     

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.     

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.     

Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, "haplotype" frequencies,and linkage disequilibrium data.

Some populations of Rwanda (South Twa Pygmies, Hutu, and Tutsi) have been analyzed by acid starch gel electrophoresis for the subtyping of PGM1 polymorphism. The new polymorphic third PGM11 allele, the PGM1(1Twa), which we recently detected in Twa Pygmies from North Rwanda, has not been found in this survey, whereas the rare PGM1(6) allele attains subpolymorphic frequencies in all groups. Comparison between the various populations of Rwanda shows that they differ significantly from each other with the exception of South Twa Pygmies and Tutsi. A relatively low frequency (9.6%) of the PGM1(2S) allele appears to be typical of North Twa Pygmies; a low frequency of PGM1(2F) (1.2%-3.6%) has been found in all these groups but not in the Hutu (6.4%); and a particularly high incidence of the PGM1(1F) allele (the highest so far reported) has been observed in the South Twa Pygmies (20%) and in the Tutsi (18%). The PGM1(1Twa) and PGM1(6) enzymes, which in acid starch gel are not distinguishable, can be clearly differentiated by isoelectric focusing. In addition, the same technique has shown that the rare PGM1(7) allele observed in one Hutu is different from that found at polymorphic frequency in the Japanese and from a rare PGM1(7) allele found in Germany. On the very likely hypothesis that the PGM1(1S), PGM1(1F), PGM1(2S), and PGM1(2F) result from variations at two different polymorphic sites, 1/2 and F/S, within the PGM1 structural gene, all the available population data have been analyzed to investigate whether preferential combinations (haplotypes) were identifiable. Whereas Caucasians show a prevalence of 2F and 1S combination with an 8.02% mean value of linkage disequilibrium expressed as % Dmax, from the very few and scattered African data, it is impossible to draw any inference at present.     

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 .     

Phosphoglucomutase-1 (PGM1) W23 and W26 variants detected in the Taiwanese Chinese population

Phosphoglucomutase-1 (PGM1) phenotyping among Taiwanese Chinese was carried out on thin layer agarose gel using isoelectric focusing techniques. During routine paternity testing, two new PGM1 variants not previously observed in Taiwanese Chinese were detected. These are PGM1 W23 and PGM1 W26.     

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.     

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 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.     

PGM1 system. Report on the international workshop, October 10-11, 1983, Munich, West Germany.

Because of the increase in the number of PGM1 polymorphisms and the existence of four distinct nomenclatures for expressing subtypes by isoelectric focusing, a nomenclature workshop was held in 1983 to compare variants and arrive at a single method for reporting PGM1 data. A total of 30 rare variants were identified and the recommended method for expressing the four common alleles is PGM1*1A, PGM1*1B, PGM1*2A, and PGM1*2B.     

PGM1 subtype polymorphism in 14 endogamous Dravidian-speaking populations of South India

Red cell hemolysates from 1,004 persons belonging to 14 population groups drawn from four South Indian states, Andhra Pradesh, Tamil Nadu, Karnataka, and Kerala, were tested for PGM1 subtypes. The groups are characterized by a high frequency of phenotype 1+1+ (range 36.98-71.64%) and the allele 1+ (range 60-79%). The groups exhibit marked heterogeneity for PGM1 locus. The results show a clear demarcation between tribes and Brahmin groups.     

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.     

A new partially deficient variant in the phosphoglucomutase 1 system,PGM1*W31

Summary In a case of disputed paternity an inherited hyposynthetical variant of the PGM1^*1A gene was identified. This variant could not be detected by conventional electrophoresis on cellulose acetate membranes but clearly appeared on polyacrylamide gels after isoelectric focusing. The enzyme activity of this variant was about 25% of the normal PGM1^*1A protein. The variant was designated PGM1^*W31.     

PGM1 and TF subtypes and C3 polymorphisms in Continental Italy and Sardinia. Data on the world distribution of these genetic markers

PGM1, TF and C3 polymorphisms have been examined in two Italian samples, collected in continental Italy and in Sardinia (Cagliari). The PGM1 and TF subtypes were determined by isoelectric focusing while the C3 was studied by conventional methods. A significant difference in the gene frequencies of PGM1 and TF systems between our two samples has been observed. In addition, data on the world distribution of PGM1, TF and C3 polymorphisms have been presented.     

A PGM1*1A variant with a reduced activity

An adverse homozygosity at the phosphoglucomutase-1 (PGM1) locus was detected in a family by electrophoresis on starch gels. Isoelectric focusing on polyacrylamide gels could clearly demonstrate a faint band at the same position as that of PGM1 1A in the mother and the child. Further analysis of other family samples and densitometric evaluation of the stained bands revealed the genetic transmission of a variant allele with a reduced activity. The molecular basis for the low activity is still unknown.