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意大利南部葡萄糖-6-磷酸脱氢酶基因座的遗传异质性:对那不勒斯人群的研究。

Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on the population of Naples.

作者信息

Colonna-Romano S, Iolascon A, Lippo S, Pinto L, Cutillo S, Battistuzzi G

出版信息

Hum Genet. 1985;69(3):228-32. doi: 10.1007/BF00293030.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic phenotype was determined in red cells from 979 male subjects born in Naples (Southern Italy). In 0.7% of the cases no activity could be detected in haemolysates, while in 1.3% of the cases G6PD activity was approximately 20% of normal and electrophoretic mobility was altered. Moreover in two subjects a G6PD with altered mobility and normal activity was shown. G6PD was characterized in 10 subjects with variant phenotype. We conclude that the G6PD(-) phenotype in the population of Naples consists of at least six different G6PD variants associated with mild deficiency and at least one, G6PD Mediterranean, associated with severe deficiency.

摘要

对979名出生于意大利南部那不勒斯的男性受试者的红细胞进行了葡萄糖-6-磷酸脱氢酶(G6PD)电泳表型测定。在0.7%的病例中,溶血产物中未检测到活性,而在1.3%的病例中,G6PD活性约为正常水平的20%,且电泳迁移率发生改变。此外,在两名受试者中发现了迁移率改变但活性正常的G6PD。对10名具有变异表型的受试者的G6PD进行了特征分析。我们得出结论,那不勒斯人群中的G6PD(-)表型至少由六种与轻度缺乏相关的不同G6PD变异体以及至少一种与严重缺乏相关的G6PD地中海变异体组成。

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