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日本血小板蛋白的杂合性与种族差异。

Heterozygosity and ethnic variation in Japanese platelet proteins.

作者信息

Asakawa J, Neel J V, Takahashi N, Satoh C, Kaneoka S, Nishikori E, Fujita M

机构信息

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

出版信息

Hum Genet. 1988 Jan;78(1):1-8. doi: 10.1007/BF00291224.

Abstract

Sixty-two polypeptides visualized on silver-stained two-dimensional polyacrylamide gel electrophoresis (2-D PAGE) preparations of platelets from 85 Japanese subjects, in total 5,252 spots, have been scored for genetic variation. Inherited variants of 11 of the polypeptides were recognized; the index of heterozygosity was 2.4% +/- 0.2%. Thus far, 10 genetic polymorphisms identified by 2-D PAGE of plasma, erythrocytes, or platelets have been identified in both Japanese and Caucasian subjects. A comparison of allele frequencies reveals four significant ethnic differences. We also observed four polypeptides exhibiting a low frequency polymorphism in one group but not in the other, as well as three polymorphisms in Caucasians for which no counterpart polypeptide has thus far been recognized in the Japanese group and, vice versa, 11 such polymorphisms in Japanese. Although a similar comparison of 7 enzyme polymorphisms studied with one-dimensional electrophoresis (1-D E) in the same populations revealed a relatively higher number of significant ethnic differences, evidence is presented that this is due primarily to the greater number of 1-D E observations entering into the calculation. It is argued that this similarity in the frequency of ethnic differences among the polypeptides studied by 2-D PAGE and by 1-D E is further evidence that the proteins revealed by 2-D PAGE do not differ greatly in their response to the interplay of mutation, selection, and drift from those revealed by 1-D E studies of plasma proteins and erythrocyte enzymes.

摘要

在对85名日本受试者血小板进行银染二维聚丙烯酰胺凝胶电泳(2-D PAGE)制备时,共观察到62种多肽,总计5252个斑点,并对其遗传变异进行了评分。已识别出11种多肽的遗传变异体;杂合度指数为2.4%±0.2%。到目前为止,通过血浆、红细胞或血小板的二维聚丙烯酰胺凝胶电泳识别出的10种遗传多态性在日本人和高加索人中均已得到确认。等位基因频率的比较揭示了四个显著的种族差异。我们还观察到四种多肽在一组中表现出低频多态性,而在另一组中未观察到,以及高加索人中的三种多态性,在日本人群体中尚未识别出相应的多肽,反之亦然,日本人中有11种此类多态性。尽管在同一人群中对7种酶多态性进行一维电泳(1-D E)研究的类似比较显示,显著的种族差异数量相对较多,但有证据表明,这主要是由于参与计算的一维电泳观察数量较多。有人认为,二维聚丙烯酰胺凝胶电泳和一维电泳研究的多肽中种族差异频率的这种相似性,进一步证明了二维聚丙烯酰胺凝胶电泳揭示的蛋白质在对突变、选择和漂变相互作用的反应方面,与血浆蛋白和红细胞酶的一维电泳研究揭示的蛋白质没有太大差异。

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