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中国人中的葡萄糖-6-磷酸脱氢酶缺乏症

Glucose-6-phosphate dehydrogenase deficiency in Chinese.

作者信息

Lai H C, Lai M P, Leung K S

出版信息

J Clin Pathol. 1968 Jan;21(1):44-7. doi: 10.1136/jcp.21.1.44.

Abstract

In a Chinese population 1,000 full-term male neonates and a further 117 jaundiced neonates of both sexes were studied in an investigation of the frequency of deficiency of erythrocyte glucose-6-phosphate dehydrogenase (G6PD). This enzyme was found to be deficient in 3.6% of male neonates. Correlation of the results with the birthplace of the 602 mothers who were known to come from Kwangtung province showed no significant differences in the frequency of the deficiency between certain parts of the province.The deficiency of G6PD in hemizygous males is profound but it is not associated with erythrocyte acid monophosphoesterase deficiency in Chinese in Hong Kong. The G6PD deficiency accounts for 15.4% of all the 117 cases of neonatal jaundice. The relative importance of G6PD deficiency as a cause of neonatal jaundice does not differ materially in male and female mutants. Neonatal jaundice can occur in all genotypes of G6PD mutation in Chinese.

摘要

在中国人群中,对1000名足月男婴以及另外117名男女黄疸新生儿进行了红细胞葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发生率的调查。发现3.6%的男婴存在这种酶缺乏。将结果与已知来自广东省的602名母亲的出生地进行关联分析,结果显示该省不同地区的G6PD缺乏症发生率无显著差异。半合子男性的G6PD缺乏症较为严重,但在香港的中国人中,它与红细胞酸性单磷酸酯酶缺乏症无关。G6PD缺乏症占117例新生儿黄疸病例的15.4%。G6PD缺乏症作为新生儿黄疸病因的相对重要性在男性和女性突变体中并无实质性差异。在中国,所有G6PD突变基因型的新生儿均可发生黄疸。

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本文引用的文献

4
GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY AND NEONATAL JAUNDICE IN CHINESE MALE INFANTS IN HONG KONG.
Lancet. 1965 Feb 13;1(7381):350-1. doi: 10.1016/s0140-6736(65)91780-0.

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