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在日本人群中通过红细胞裂解物的二维凝胶检测到的遗传性电泳变异体。

Inherited electrophoretic variants detected in a Japanese population with two-dimensional gels of erythrocyte lysates.

作者信息

Takahashi N, Neel J V, Nagahata-Shimoichi Y, Asakawa J, Tanaka Y, Satoh C

机构信息

Department of Genetics, Radiation Effects Research Foundation, Hiroshima, Japan.

出版信息

Ann Hum Genet. 1986 Oct;50(4):313-25. doi: 10.1111/j.1469-1809.1986.tb01753.x.

Abstract

Genetic variation has been studied in erythrocyte lysates from 100 Japanese children and their parents by means of two-dimensional polyacrylamide gel electrophoresis. Fifty-five polypeptides selected without respect to variability were considered suitable for scoring. Genetic variation was encountered in 14 of these polypeptides. Family data show that the segregation of 13 variants is consistent with an autosomal codominant mode of inheritance; the remaining variant exhibits a sex-linked mode of inheritance. Of 8 presumably identical polypeptides found variable in Japanese and/or Caucasians, differences in the occurrence or allele frequencies of polymorphisms were recognized for four. Contrary to the experience of some investigators, the amount of variation and the ethnic differences we are encountering indicate that two-dimensional polyacrylamide gel electrophoresis is a sensitive tool for the study of genetic events.

摘要

通过二维聚丙烯酰胺凝胶电泳,对100名日本儿童及其父母的红细胞裂解物中的遗传变异进行了研究。在不考虑变异性的情况下选择的55种多肽被认为适合进行评分。在这些多肽中有14种出现了遗传变异。家系数据表明,13种变异体的分离符合常染色体共显性遗传模式;其余变异体表现出X连锁遗传模式。在日本人和/或高加索人中发现有8种推测相同的多肽具有变异性,其中4种在多态性的发生率或等位基因频率上存在差异。与一些研究者的经验相反,我们所遇到的变异量和种族差异表明,二维聚丙烯酰胺凝胶电泳是研究遗传事件的一种灵敏工具。

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