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

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.