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巴布亚新几内亚的葡萄糖-6-磷酸脱氢酶缺乏症。13种新变体的描述。

Glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. The description of 13 new variants.

作者信息

Chockkalingam K, Board P G, Nurse G T

出版信息

Hum Genet. 1982;60(2):189-92. doi: 10.1007/BF00569710.

Abstract

A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previously described forms of G6PD. This study illustrates the extreme heterogeneity of G6PD deficiency among the people of Papua New Guinea.

摘要

对来自巴布亚新几内亚不同地区的362名男性进行了红细胞葡萄糖-6-磷酸脱氢酶(G6PD)活性筛查。共鉴定出26名G6PD缺乏个体。对从这些受试者中纯化的G6PD进行生化特征分析,发现了13种新变体以及几个先前描述的G6PD形式的样本。这项研究表明巴布亚新几内亚人群中G6PD缺乏存在极大的异质性。

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