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巴西葡萄糖-6-磷酸脱氢酶变体的分子特征分析

Molecular characterization of glucose-6-phosphate dehydrogenase variants from Brazil.

作者信息

Weimer T A, Salzano F M, Westwood B, Beutler E

机构信息

Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

出版信息

Hum Biol. 1993 Feb;65(1):41-7.

PMID:8436389
Abstract

Electrophoretic surveys of 7794 individuals from different regions of Brazil and a study of subjects with hemolytic anemia have disclosed 9 putative G6PD variants in addition to the B, A, A-, and Mediterranean types. No variants were found among the 3739 Brazilian Indians tested. Four variants underwent DNA analysis. Three were identified with the Mediterranean, Seattle, and Anaheim types, but the fourth variant was previously undescribed and we propose to designate it G6PD São Borja.

摘要

对来自巴西不同地区的7794人进行的电泳调查以及对溶血性贫血患者的研究表明,除了B型、A型、A-型和地中海型外,还发现了9种假定的葡萄糖-6-磷酸脱氢酶(G6PD)变体。在接受检测的3739名巴西印第安人中未发现变体。对4种变体进行了DNA分析。其中3种被鉴定为地中海型、西雅图型和阿纳海姆型,但第4种变体此前未被描述,我们建议将其命名为G6PD圣博尔哈型。

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