广东潮州地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症基因突变分析

Genotyping analysis of glucose-6-phosphate dehydrogenase deficiency in neonates of Chaozhou area of Guangdong province

摘要:

目的：了解潮州地区新生儿的葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase deficiency，G6PD）缺乏症的发病率及基因突变特点。方法：采用荧光斑点法对2010至2012年潮州市中心医院出生的2 500例新生儿进行G6PD缺乏筛查。对初筛阳性的67例标本用高分辨熔解曲线分析技术（high-resolution melting，HRM）和PCR-DNA测序法进行基因分型。结果：本次筛查发现潮州地区新生儿人群的G6PD缺乏症总发生率为2.6%（67/2 500），其中男婴44例（3.22%，44/1 365），女婴23例（2.03%，23/1 135），男女检出率比为1.91∶1（44/23），两者之间无统计学差异（ χ2=3.404，P=0.065）。67例初筛阳性标本中58例检测出有突变，9例未检出突变，共检出7种基因突变，含26例1 376 G>T（c.1466G>T，44.83%），22例1 388 G>A（c.1478G>A，37.94%），5例95 A>G（c.185A>G，8.62%），2例871 G>A（c.961G>A，3.45%），1例392 G>T（c.482G>T，1.72%），1例493 A>G（c.583A>G，1.72%），1例1360 C>T（c.1450C>T，1.72%），没有检出复合突变类型。结论：潮州地区具有较高的G6PD发生率。G6PD Canton（1376 G>T）、G6PD Kaiping（1388 G>A）和G6PD Gaohe（95 A>G）3种突变类型最常见。

Abstract:

Objective：To investigate the prevalence and genotypic mutant characteristics of the glucose-6-phosphate dehydrogenase deficiency（G6PD） deficiency in neonates of Chaozhou area. Methods：A total of 2 500 neonates born in Chaozhou Central Hospital were screened for G6PD deficiency by inflorescent spot test（FST）. Then，all positive screening samples were subjected to genotype through high-resolution melting assay or DNA sequencing. Results：The prevalence of G6PD deficiency in Chaozhou was 2.6%（67/2 500）. Of the 67 infants suspected to be G6PD deficiency based on FST，44（3.22%，44/1 365） were males and 23（2.03%，23/1 135）were females. The detected ratio of male and female was 1.91∶1 without statistical differences（ χ2=3.404，P=0.065）. Among these 67 positive screening samples based on FST，58 had gene mutation；7 kinds of mutation were found including 26 cases of 1376 G>T（c.1466G>T，44.83%），22 cases of 1 388 G>A（c.1478 G>A，37.94%），5 cases of 95 A>G（c.185A>G，8.62%），2 cases of 871 G>A（c.961G>A，3.45%），1 case of 392 G>T（c.482G>T，1.72%），1 case of 493 A>G（c.583A>G，1.72%） and 1 case of 1360 C>T（c.1450C>T，1.72%）. Conclusion：The incidence of G6PD deficiency is high in Chaozhou area. More male infants are detected with G6PD defi－ciency than females. G6PD Canton（1376 G>T），G6PD Kaiping（1388 G>A） and G6PD Gaohe（95 A>G） are the three most common variants in this area.