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.     

Identification of base substitutions in ten types of rare variants of phosphoglucomutase-1 (PGM1) encountered in Japanese.

In a previous starch-gel electrophoresis study of erythrocyte phosphoglucomutase-1 (PGM1) in 23,095 Japanese from Hiroshima and Nagasaki, we detected 14 types of rare variant alleles. To determine sequence differences in these rare alleles, cell lines were established from peripheral B-lymphocytes from 24 unrelated individuals in whom nine types of rare variants are presumed to exist on the basis of earlier electrophoresis studies. cDNAs reverse transcribed from mRNAs extracted from these cell lines were amplified by polymerase chain reaction and sequences determined. Amino acid substitution types were deduced from each cDNA sequence. Although two individuals were reported to have an identical electromorph (PGM1 4HR3), sequence analysis revealed that alleles encoding these electromorphs possessed different base substitutions, and one was renamed PGM1 4HR4. As the amino acid substitution of ten different variants could be deduced by cDNA sequence in this study, the effect of each amino acid substitution on enzyme activity could be precisely simulated. The secondary structure of each variant predicted by computer simulations revealed that very decreased activity observed on PGM1 4HR2 protein was caused by significant secondary structure change introduced by the amino acid substitution. On the basis of the crystal structure, the amino acid substitutions of the ten types of rare variants seem to be outside the active center of this enzyme.     

The phosphoglucomutase (PGM1)-groups in the Swiss population

Summary The distribution of the phosphoglucomutase(PGM₁)-groups was studied on blood samples obtained from 2638 Swiss adults. The distribution was found to be in excellent agreement with the Hardy-Weinberg equilibrium. The obtained gene frequencies were similar to those observed in other Caucasian populations (PGM ₁ ¹ =0.7586, PGM ₁ ² =0.2414). In 942 mother/child pairs no theoretical impossible combinations were found. No significant difference was observed between the gene frequencies of men and of women. An unusual phenotype, probably 3-1, was found in blood samples from 3 unrelated adults (1 woman and 2 men). In addition 2 children (a child of the woman and a child of one of the men) were found to have this rare phenotype.

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Zusammenfassung An einem Untersuchungsgut von 2638 Blutproben von schweizerischen Erwachsenen wurde die Verteilung der Phosphoglucomutase(PGM₁)-Gruppen untersucht. Die gefundene Verteilung ist in ausgezeichneter Übereinstimmung mit dem Hardy-Weinberg-Gesetz. Die Frequenzen stimmen mit denen anderer kaukasischer Bevölkerungen überein (PGM ₁ ¹ =0,7586, PGM ₂ ¹ -0,2414). In 942 Mutter/Kind-Paaren wurden keine theoretisch unmögliche Kombination gefunden. Es bestand keine signifikante Differenz zwischen den Genfrequenzen von Frauen und Männern. Bei 3 nichtverwandten Personen (1 Frau, 2 Männer) wurde ein seltener Phänotyp (wahrscheinlich 3-1) beobachtet. Der gleiche Typ wurde bei 2 Kindern gefunden (eines war das Kind der Frau, das andere dasjenige von einem der Männer).

     

Population studies on human phosphoglucomutase-1 thermostability polymorphism

Summary The electrophoretic and thermostability polymorphisms of the PGM ₁ locus were examined in about 700 Czechoslovakians (Prague) and 3000 Italians. The Italian sample consisted of individuals from Pavia (Northern Italy), Viareggio and Rome (Central Italy) and Naples (Southern Italy). The eight PGM ₁ alleles, PGM ₁ ^1Str , PGM ₁ ^1Sts , PGM ₁ ^1Ftr , PGM ₁ ^1Fts , PGM ₁ ^2Str , PGM ₁ ^2Sts , PGM ₁ ^2Ftr , PGM ₁ ^2Fts , have been considered as combinations of mutations at three different sites, 1/2 S/F and tr/ts, within the PGM ₁ gene and their frequencies discussed in terms of linkage disequilibrium between these sites. All pairwise differences between the samples were significant except for Pavia-Viareggio and Viareggio-Rome. The frequencies of the PGM ₁ ^ts alleles have been found to range from 0.0981 (Prague) to 0.0546 (Naples) and can be ordered according to a North-South cline.This paper is dedicated to Professor Giuseppe Montalenti in occasion of his 80th birthday     

Phosphoglucomutase-1 subtypes in two populations in Adriatic islands: presence of PGM1*W3 (PGM1*7+) allele.

Allele frequencies at the phosphoglucomutase-1 (PGM1) locus have been investigated in two Croatian (Yugoslavian) populations from neighboring islands, Silba and Olib. The genotype distributions are significantly different though the two islands are only 2 km apart. In the light of demographic and historical data, a few hypotheses explaining these results are discussed. A rare variant, PGM1*W3, usually found in Asia, is present in 4 inhabitants from the Olib island.     

Investigation of PGM13, PGM16, and PGM17 variants by isoelectric focussing. Evidence for new subtypes of the PGM 1 3 and PGM 1 7 alleles

Summary A total of 345 haemolysates previously phenotyped by starch gel electrophoresis and known to contain the products of the PGM ₁ ³ , PGM ₁ ⁶ , and PGM ₁ ⁷ alleles have been analyzed by thin layer polyacrylamide gel isoelectric focussing in the pH range 5–7. Two common subtypes, 3+and 3-, of the PGM ₁ ³ allele have been found in a number of Pacific populations. A single form of the PGM ₁ ⁷ allele was observed in the Western Caroline Islands. In contrast, one of two Indian PGM₁7 variants focussed to a different position when compared with the form found at polymorphic frequency in the Western Caroline Islands. Only one type of the PGM ₁ ⁶ allele was detected during the present investigation.     

Methodologic aspects of genomic fingerprinting in population studies]

Use of DNA fingerprinting in population studies is complicated by a number of methodical problems caused by the necessity to work with a large amount of experimental data and insufficient reproducibility of the results. In this work, possible approaches to overcome methodical difficulties faced by the authors during elaboration of the experimental technique are discussed.     

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.     

Characterisation of the isoenzymes of phosphoglucomutase (PGM) determined by the first (PGM1) and second (PGM2) locus observed by isoelectric focusing

Summary The existence of four alleles of phosphoglucomutase (PGM₁) in human red cell lysates has previously been demonstrated by isoelectric focusing (Bark et al., 1976; Kühnl et al., 1977; Sutton and Burgess, 1978). Experiments are now described in which the position of each of the first-locus (PGM₁) and second-locus (PGM₂) isoenzymes is defined, thus extending and confirming the original proposal made by Bark et al.     

Genetic studies on the Gc subtypes

Summary Gc subtypes were determined by immunofixation isoelectric focusing. In a family study involving 93 families with a total of 176 children, a three-allele model with six genotypes was confirmed. The distribution of Gc subtypes was studied in three populations from Europe and in a sample of Druzes from Northern Israel. Three new variant Gc types were observed.     

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.     

Genetic studies in the Garfagnana population (Tuscany, Italy)

The relationship between geographic isolation and historical-demographic features and genetic structure and pattern of variation of genetic markers was analyzed in the population of Garfagnana, a semi-isolated mountainous area in the province of Lucca (Italy), taking into account hierarchical subdivisions. A random sample of unrelated individuals, whose parents were both born in this area, was typed for AB0, MN, Kell, Rh, AK, EsD, 6-PGD, AcP and ABH secretor status. The village samples were aggregated into larger population units: Two districts and six subdistricts. Comparisons were performed with population samples of the plain and the coastal area of the same province (Lucca). Phenotype and genetic differentiations among and within subdivisions were studied using G2, R statistic, Nei's method, Harpending & Ward's method and analysis of genetic distance and similarity matrices. The various parameters consistently show significant heterogeneity among the subdivisions, both at district and at subdistrict level. As expected, the gene diversity between and within subdivisions varies according to their distinctive features of isolation.     

Genetic studies on the Asmat population (Irian-Jaya, Indonesia)

The Asmat are a population of about 35,000 people living on the South-West coast of Irian-Jaya (Indonesia; New Guinea). This paper presents the results of enzyme group and serum protein group typings in a sample of Asmats living in the coastal region around Agats. Red cell enzyme polymorphisms (EaP, PGM1, 6-PGD, EsD, ADA and AK) could be typed in 154 blood samples, serum protein polymorphisms (Ge, alpha 1-AT, PLG, Tf and Hp) in 160 blood samples. The results of this study are discussed in detail.     

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.     

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.