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在西非冈比亚两个村庄的人群中高频出现的一种人类红细胞葡萄糖-6-磷酸脱氢酶(G6PD)新变体。

A new variant of human erythrocyte G6PD occurring at a high frequency amongst the population of two villages in The Gambia, West Africa.

作者信息

Welch S G, McGregor I A, Williams K

出版信息

Hum Genet. 1978 Feb 16;40(3):305-9. doi: 10.1007/BF00272191.

Abstract

During the course of a large survey of red cell G6PD genotypes in The Gambia, a slow electrophoretic variant with reduced enzyme activity was found to occur at a high frequency. This variant, G6PD Gambia, was found in the following genotypic combinations: males; G6PDGam, females; G6PDA+/Gam, G6PDB+/Gam, and G6PDA-/Gam. From the electrophoretic mobility and kinetic characteristics it was concluded that G6PD Gambia was a hitherto unreported variant of G6PD. The frequency of the G6PDGam gene amongst the 1109 individuals examined was 0.024.

摘要

在对冈比亚红细胞G6PD基因型进行大规模调查的过程中,发现一种电泳迁移缓慢且酶活性降低的变异型以高频率出现。这种变异型,即G6PD冈比亚型,出现在以下基因型组合中:男性为G6PDGam;女性为G6PDA+/Gam、G6PDB+/Gam和G6PDA-/Gam。根据电泳迁移率和动力学特征得出结论,G6PD冈比亚型是一种此前未报道过的G6PD变异型。在所检测的1109名个体中,G6PDGam基因的频率为0.024。

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