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通过二维电泳检测到的人类血小板多肽中的一种新的基因多态性。

A new genetic polymorphism in human platelet polypeptides detected by two-dimensional electrophoresis.

作者信息

Kajii E, Iwamoto S, Omi T, Ikemoto S

机构信息

Department of Legal Medicine and Human Genetics, Jichi Medical School, Tochigi, Japan.

出版信息

Ann Hum Genet. 1991 May;55(2):93-102. doi: 10.1111/j.1469-1809.1991.tb00402.x.

Abstract

We described a new genetic polymorphism of human platelet polypeptide, detected by two-dimensional polyacrylamide gel electrophoresis followed by silver-staining. The polymorphism was tentatively designated thrombocyte B (ThB) with a molecular weight of 34 kDa and isoelectric point of 4.7-4.8. In this polypeptide, three different electrophoretic types (1-1, 1-2, 2-2) were identified. Family and population studies indicate that the three phenotypes of the polypeptide are determined by two common alleles at a single autosomal locus. In a Japanese population, the gene frequency of ThB 1/ThB 2 was 0.74/0.26. The ThB polypeptide was not found in other blood cells and decreased or disappeared during the preparation or storage of platelets.

摘要

我们描述了一种人类血小板多肽的新基因多态性,通过二维聚丙烯酰胺凝胶电泳和银染检测到。该多态性暂定为血小板B(ThB),分子量为34 kDa,等电点为4.7 - 4.8。在这种多肽中,鉴定出三种不同的电泳类型(1 - 1、1 - 2、2 - 2)。家系和群体研究表明,该多肽的三种表型由常染色体上一个位点的两个常见等位基因决定。在日本人群中,ThB 1/ThB 2的基因频率为0.74/0.26。ThB多肽在其他血细胞中未发现,且在血小板制备或储存过程中减少或消失。

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