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[葡萄糖-6-磷酸脱氢酶缺乏症的遗传异质性:阿塞拜疆谢基伊地区葡萄糖-6-磷酸脱氢酶的突变等位基因]

[Genetic heterogeneity of G6PD deficiency: mutant alleles of G6PD in the Shekii district of Azerbaijan].

作者信息

Krasnopol'skaia K D, Shatskaia T L, Filippov I K, Annenkov G A, Zakharova T V

出版信息

Genetika. 1977;13(8):1455-61.

PMID:144081
Abstract

Examination on G6PD deficiency in 349 patients of Shekii district hospital (Azerbaijan) revealed 16 hemi-, 4 homo- and 9 heterozygotic carriers of the defect. Gd- frequency, calculated from the data obtained (7.7%), may be compared to neighbouring regions' frequencies (6-30%). Carriers of G6PD deficiency are residents of 11 villages located in Alasani-Aphtalan valley, highly endemic with malaria in the past; nearly all marriages are endogamic. Physico-chemical and kinetic study of 10 mutant forms of G6PD, according to WHO program, led to identification of 5 variants of the II class (Shekii, Bideiz, Shirin-Bulakh, Okhut I and Zakataly) and 2 variants of the III class (Okhut II and Martinique-like). Resemblance of the majority of variants in electrophoretic mobility and the level of erythrocyte enzyme activity permit to suggest the existence of a common parental mutant G6PD allele distributed in this area.

摘要

对舍基地区医院(阿塞拜疆)的349名患者进行的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症检测发现,有16名半合子、4名纯合子和9名杂合子缺陷携带者。根据所获数据计算出的Gd频率(7.7%),可与邻近地区的频率(6%-30%)作比较。G6PD缺乏症携带者是阿拉萨尼-阿夫塔兰山谷中11个村庄的居民,该地区过去疟疾流行程度很高;几乎所有婚姻都是近亲结婚。根据世界卫生组织的计划,对10种G6PD突变形式进行的物理化学和动力学研究,确定了5种II类变体(舍基、比代兹、希林-布拉赫、奥胡特I和扎卡塔利)和2种III类变体(奥胡特II和马提尼克样)。大多数变体在电泳迁移率和红细胞酶活性水平上的相似性表明,该地区存在一个共同的亲本突变G6PD等位基因。

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