Phenotypes and genotypes of glucose-6-phosphate dehydrogenase deficiency in mothers and sons by reverse genetics

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Chinese Journal of Reproductive Health ›› 2019, Vol. 30 ›› Issue (3) : 232-236.

LI Lei, GUO Hongchuang, XIAO Qizhi, LI Lianxiang

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Abstract

Objective To investigate the true detection rate of female G6PD enzyme activity, the relationship between G6PD enzyme activity and gene mutation in women.Methods 124 males with G6PD deficiency and their mothers were collected. The G6PD enzyme activity screening and enzyme activity were detected by fluorescent spot test and nitroblue tetrazoliun test. The melting curve analysis technique was used to detect the Chinese common G6PD gene mutation.Results The G6PD enzyme activity of all male was 1.10 - 8.58 U/gHb. The mothers′ enzyme activity was 1.44 -31. 20 U/gHb. Common G6PD gene mutations were detected in male offspring like their mothers except for one case, 70.2% (87/124) of mothers had normal enzyme activity, with a single mutation; while 16.1% (20/124) of mothers had moderate / mild deficiency with a single mutation except for 2 cases with double gene mutations; 13.7% (17/124) of mothers with severe G6PD deficiency were detected as double mutations (one case was double heterozygote).Conclusion Women with a single mutation gene, the enzyme activity showed a continuous large-span distribution; male enzyme activity was only 1/6 as women with the same gene mutation. Women with double mutations seriously affect the activity of G6PD enzyme, like male hemizygous. So genetic screening was necessary.

Key words

Glucose-6-phosphatedehydrogenase / Women heterozygous / Phenotypic variation / Molceular diagnostic techniques

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LI Lei, GUO Hongchuang, XIAO Qizhi, LI Lianxiang. Phenotypes and genotypes of glucose-6-phosphate dehydrogenase deficiency in mothers and sons by reverse genetics[J]. Chinese Journal of Reproductive Health, 2019, 30(3): 232-236

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