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22种蛋白质基因变异在日本人中的频率。I. 白蛋白、铜蓝蛋白、触珠蛋白和转铁蛋白。

The frequency in Japanese of genetic variants of 22 proteins. I. Albumin, ceruloplasmin, haptoglobin, and transferrin.

作者信息

Ferrell R E, Ueda N, Satoh C, Tanis R J, Neel J V, Hamilton H B, Inamizu T, Baba K

出版信息

Ann Hum Genet. 1977 May;40(4):407-18.

PMID:879711
Abstract

This paper presents the results of an electrophoretic survey of approximately 4000 individuals from the cities of Hiroshima and Nagasaki, Japan, for four serum proteins: albumin, ceruloplasmin, haptoglobin and transferrin. The haptoglobin gene frequencies obtained for the HP1-HP2 polymorphism are in agreement with earlier reports. Rare electrophoretic variants of albumin, ceruloplasmin and haptoglobin occur with frequencies of 2-48, 0-50 and 0-58 per 1000 determinations, respectively. The noteworthy finding of 8 distinct transferrin variants in these populations, with a combined frequency of 20-90 per 1000 determinations, is also presented. Four of these variants (Dchi, B1, B3, and DHIR2 which corresponds electrophoretically to D4) have been reported in other populations in Japan, but the other five have not previously been differentiated.

摘要

本文介绍了对来自日本广岛和长崎市的约4000人进行的四种血清蛋白(白蛋白、铜蓝蛋白、触珠蛋白和转铁蛋白)的电泳调查结果。获得的触珠蛋白HP1-HP2多态性的基因频率与早期报告一致。白蛋白、铜蓝蛋白和触珠蛋白的罕见电泳变体出现频率分别为每1000次测定2 - 48、0 - 50和0 - 58。还介绍了在这些人群中发现的8种不同的转铁蛋白变体这一值得注意的发现,其合并频率为每1000次测定20 - 90。其中四种变体(Dchi、B1、B3和电泳上对应于D4的DHIR2)已在日本的其他人群中报道过,但其他五种以前尚未区分。

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