Kühnl P, Schmidtmann U, Spielmann W
Hum Genet. 1977 Feb 11;35(2):219-23. doi: 10.1007/BF00393973.
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.
采用淀粉凝胶电泳、高压薄层琼脂糖凝胶电泳和聚丙烯酰胺凝胶薄层等电聚焦三种技术,对红细胞、白细胞、淋巴细胞的裂解物以及精子提取物进行了PGM1同工酶研究。在淀粉凝胶上,仅能显示出众所周知的常见表型1、2-1和2。在琼脂糖凝胶上,观察到2-1表型中两条主要阴极带(a、b)的不同距离。此外,在琼脂糖凝胶上,一些在淀粉凝胶上被认为是纯合子的类型呈现单一、清晰的条带模式,而其他类型则条带宽且模糊。通过聚丙烯酰胺凝胶等电聚焦实现了最佳分离。在291份白细胞裂解物中,鉴定出10种不同表型。根据初步的家系研究,这些表型被认为是PGM1基因座上4种不同常见等位基因的产物。在来自黑森州的随机人群中,这四个等位基因的频率如下:PGM1a1为0.6186,PGM1a2为0.1718,PGM1a3为0.1426,PGM1a4为0.067。由于在丙烯酰胺和琼脂糖凝胶上证实了假定的多态性,所以初步命名为a1、a2、a3和a4。PGM1a1和PGM1a3(其基因产物在淀粉凝胶上具有明显相同的电泳迁移率)的频率之和,类似于白种人中旧的PGM11等位基因(0.757)的频率,PGM1a2和PGM1a4的频率为0.2388,与旧等位基因PGM21的频率相对应。