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人类红细胞磷酸葡萄糖变位酶的等电聚焦:西非冈比亚一个乡村人群中变异表型的分布

Isoelectric focusing of human red cell phosphoglucomutase: the distribution of variant phenotypes in a village population from the Gambia, West Africa.

作者信息

Welch S G, Swindlehurst C A, McGregor I A, Williams K

出版信息

Hum Genet. 1978 Sep 19;43(3):307-13. doi: 10.1007/BF00278838.

Abstract

A total of 637 individuals from the rural village of Keneba in The Gambia, West Africa, have been typed for red cell PGM using isoelectric focusing (pH 5--7) in polyacrylamide gels. Eight different phenotypes have been detected. The frequency of the four alleles at the PGM1 locus was found to be PGM1+(1) 0.795, PGM1-(1) 0.053, PGM2+(1) 0.133, AND PGM2-(1) 0.019. A study of the PGM phenotypes in 89 families confirmed the simple Mendelian codominant inheritance of the four alleles. Comparative population data suggest that red cell PGM typing by isoelectric focusing might prove to be a useful genetic marker in anthropological studies.

摘要

在西非冈比亚的凯内巴乡村,共有637人接受了红细胞磷酸葡萄糖变位酶(PGM)分型,采用的方法是在聚丙烯酰胺凝胶中进行等电聚焦(pH 5 - 7)。已检测到8种不同的表型。发现PGM1位点上4个等位基因的频率分别为:PGM1+(1) 0.795、PGM1-(1) 0.053、PGM2+(1) 0.133和PGM2-(1) 0.019。对89个家庭的PGM表型研究证实了这4个等位基因的简单孟德尔共显性遗传。比较群体数据表明,通过等电聚焦进行红细胞PGM分型可能被证明是人类学研究中一种有用的遗传标记。

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