Takahashi N, Neel J V, Satoh C, Nishizaki J, Masunari N
Proc Natl Acad Sci U S A. 1982 Nov;79(21):6636-40. doi: 10.1073/pnas.79.21.6636.
The results of phosphoglucomutase-1 (PGM1) typings by starch gel electrophoresis and subtypings by isoelectric focusing are presented for a sample of Japanese. A distinction made on the basis of isoelectric focusing (termed "+" and "-") is nonrandomly associated with each of the products of the four most common electrophoretic alleles (PGM1(1), PGM1(2), PGM1(3), and PGM1(7). The isoelectric trait cosegregates with the allele; the degree of nonrandomness of the association varies from allele to allele. Thus, the four alleles become eight. On the basis of these facts plus the additive nature of the pI differences between allele products and the geographical distribution of the alleles, an allele phylogeny can be constructed. This postulates that the eight alleles may be explained by three nucleotide substitutions involving the stem allele plus four intragenic recombinations between these substitutions. The potential of intragenic recombination as a cause of mutation has been insufficiently appreciated.
本文展示了通过淀粉凝胶电泳对日本人群样本进行磷酸葡萄糖变位酶-1（PGM1）分型以及通过等电聚焦进行亚型分型的结果。基于等电聚焦做出的区分（称为“+”和“-”）与四种最常见电泳等位基因（PGM1(1)、PGM1(2)、PGM1(3)和PGM1(7)）的每种产物非随机相关。等电特性与等位基因共分离；这种关联的非随机程度因等位基因而异。因此，这四个等位基因变成了八个。基于这些事实以及等位基因产物之间pI差异的加性性质和等位基因的地理分布，可以构建一个等位基因系统发育树。这假定这八个等位基因可以由涉及主干等位基因的三个核苷酸替换以及这些替换之间的四次基因内重组来解释。基因内重组作为突变原因的潜力尚未得到充分认识。
