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[阿塞拜疆的Gd等位基因分布模式。III. 葡萄糖-6-磷酸脱氢酶突变形式的鉴定]

[Gd- allele distribution patterns in Azerbaijan. III. The identification of mutant forms of glucose-6-phosphate dehydrogenase].

作者信息

Shatskaia T L, Krasnopol'skaia K D, Zakharova T V

出版信息

Genetika. 1980;16(12):2217-25.

PMID:6453040
Abstract

In 28 families with G6PD deficiency living in 3 settlements of Shekii district of Azerbaijan 11 G6PD variants of II and III classes differing by kinetic properties were identified according WHO program. 9 of them are characterized with the same electrophoretic mobility. Comparison of G6PD spectra in two subpopulations and in a mixed group permits to make a conclusion about existence of common and rare G6PD alleles in examined population. They distribute by gene drift supported by natural selection. Among 7 samples of G6PD with normal and increased activity two new variants of IV class -- Nukha and Bash-Kungut -- were found.

摘要

在阿塞拜疆舍基区3个定居点的28个患有葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的家庭中,根据世界卫生组织的计划,鉴定出了11种动力学特性不同的II类和III类G6PD变体。其中9种具有相同的电泳迁移率。对两个亚群和一个混合群体中G6PD谱的比较,有助于得出关于所研究人群中常见和罕见G6PD等位基因存在情况的结论。它们通过自然选择支持的基因漂变进行分布。在7个G6PD活性正常和升高的样本中,发现了IV类的两个新变体——努哈变体和巴什-昆古特变体。

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