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日本人血液蛋白质的电泳变异体。III. 磷酸丙糖异构酶

Electrophoretic variants of blood proteins in Japanese. III. Triosephosphate isomerase.

作者信息

Asakawa J, Satoh C, Takahashi N, Fujita M, Kaneko J, Goriki K, Hazama R, Kageoka T

出版信息

Hum Genet. 1984;68(2):185-8. doi: 10.1007/BF00279312.

Abstract

A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encountered in this population. These variants were further characterized by starch gel electrophoresis using tris-EDTA buffer, pH 9.3, and isoelectric focusing. An anodally migrating allozyme TPI 2HR1 exhibited markedly decreased enzyme activity, as evaluated by the staining intensity of the variant bands. The level of TPI activity in erythrocytes from this individual with the phenotype TPI 1-2HR1 was about 60% of the normal mean. Family studies confirmed the genetic nature of all the variants.

摘要

对居住在广岛和长崎的15387人进行了检查,其中10864人无亲缘关系,使用pH 7.4的TEMM缓冲液通过淀粉凝胶电泳检测红细胞磷酸丙糖异构酶(TPI)。在该人群中发现了四种新变体,一种向阴极迁移,三种向阳极迁移。使用pH 9.3的tris-EDTA缓冲液通过淀粉凝胶电泳和等电聚焦对这些变体进行了进一步表征。通过变体条带的染色强度评估,一种向阳极迁移的同种异型酶TPI 2HR1表现出明显降低的酶活性。具有TPI 1-2HR1表型的个体的红细胞中TPI活性水平约为正常平均值的60%。家系研究证实了所有变体的遗传性质。

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