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

Abstract

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 electrophresis, and thin-layer 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 allesles at the PGM1 locus as suggested by preliminary family investigations. In a random population from Hessen these four alleles had the following frequencies: PGM1al 0.6186, PGMa21 0.1718, PGMa31 0.1426, and PGMa41 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 PGMa11 and PGMa31 (the gene products of which have apparently the same electrophoretic mobility on starch) is similar to the frequency of the old PGM11 allele (0.757) in Caucasoids, PGMa21 and PGMa41 have a frequency of 0.2388 corresponding with the frequency of the old allele PGM21.

The distribution of transferrin, group-specific component and phosphoglucomutase-1 subtypes among the Lepchas of Darjeeling, Eastern India

“…The red cell PGM1 types were determined by starch-gel electrophoresis (Spencer et al, 1964) and isoelectric focusing on thin layer PAG-Ampholine gels of pH 5-7 (LKB) (Bark et al, 1976;Kiihnl et al, 1977). Inserts were cut in size of 1 cmx 5 mm from blood-soaked dried filter paper (3 MM), soaked briefly in distilled water and applied directly on starch-gel and IEF gel, respectively, for electrophoresis and isoelectric focusing.…”

Isoelectric Focusing of Human Red Cell Phosphoglucomutase (PGM₁)

“…We were not able to separate bands 3 and 5 from each other, but there was an evident difference in staining intensity. The more acidic band in the heterozygotes 3-al (samples 5,6,20) was much more intensely stained than the al band, whereas in case of the phenotypes 5-al (samples 10, 11, 12, 22) the two bands were both of almost equal intensity. Two additional rare types previously found to be PGM 7-1 in starch gel electrophoresis, showed a faint band at the a2 position, be side the regular al band, but no extra band.…”

“…We have been using this polymorphic system routinely in paternity testing for many years [3], More recently, however, isoelectric fo cusing has been found to be a much more powerful separation technique for isoen zymes. With this technique 10 common phenotypes of PGM, due to four alleles at the PGM, locus can be differentiated [4][5][6], The use of isoelectric focusing in compari son with starch gel electrophoresis greatly improves the value of the PGM system in paternity testing. The chance of exclusion of a falsely accused father increases from 14.9 to 25.4°/» [8].…”

Electrophoretic Subtyping of Phosphoglucomutase Locus 1 (PGM₁) Polymorphism in the Italian and Czechoslovakian Populations

“…Thus the PGM| polymorphism, first attributed to two co dominant alleles, the PGM | and the PGM|, turned out to be controlled by four codominant alleles. These were called PGM|a, PGM , \ PGM \\ PGMt'1 or PGM|+, PGM]', PGM}+, PGM}" by the authors who discovered them by isoelec tric focusing [Bark et al, 1976;Kiihnl et al, 1977] and PGM¡s, PGM\f, PGMf, PGM}1 by those who detected them by acid starch gel [Bissbort et al, 1978].…”