G6PD缺乏症发病的分子病理学新机制
Pathology of Human Glucose-6-phosphate Dehydrogenase Deficiency
葡萄糖-6-磷酸脱氢酶缺乏症(Gluocose-6-phosphate dehydrogenase deficiency,简称G6PD缺乏症)是人类最常见的酶缺陷遗传病之一,全球约有4亿多人受累。G6PD缺乏症主要是由于G6PD基因发生变异所引起,其经典分子病理学机制研究主要集中在G6PD基因的突变研究上,但对少部分病例来说,经典的发病机制并不能对其表型和基因型的关系做出合理的解释。近些年来,一些学者在G6PD缺乏症发病新的分子机制方面作了较为深入的研究,为了更好的理解本病,本文就对近年来对于G6PD缺乏症发病的分子病理学新机制的研究作一综述。
Gluocose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathies, affecting about 400 million people worldwide. G6PD deficiency is caused mostly by mutations in the G6PD gene, however, the classical pathogenesis can't give definite explanations between the relationship of phenotype and genotype to a minority of cases. In recent years, some new mechanisms in the molecular pathology on G6PD deficiency were found. To know better about this disease, the new mechanisms in the molecular pathology on G6PD deficiency is reviewed.
张力佳、熊符
基础医学分子生物学
G6PD缺乏症分子病理学遗传异质性
G6PD deficiencyMolecular pathologyGenetic heterogeneity
张力佳,熊符.G6PD缺乏症发病的分子病理学新机制[EB/OL].(2011-07-15)[2025-08-02].http://www.paper.edu.cn/releasepaper/content/201107-246.点此复制
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