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目的探讨非州西部赤道几内亚比奥科岛(Bioko Island)人群的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率及基因型。方法在2012年1月至5月期间,用荧光斑点法对2 187名比奥科岛当地居民进行G6PD缺乏症筛查。采用高分辨熔解曲线(High-resolution melting,HRM)分析G6PD缺乏的标本的c.202 G>A与c.376 A>G。对HRM筛选不出突变的G6PD酶学缺乏的样本,针对非洲的其他突变类型:c.542 A>T(rs5030872)、c.680 G>A(rs137852328)、c.968 T>C(rs76723693)进行PCR-DNA测序。结果赤道几内亚比奥科岛人群的G6PD缺乏症总发生率为8.54%(189/2 187),其中男性84例(9.04%,84/929),女性105例(8.34%,105/1 258),男女检出率比为1.08:1。在189例G6PD缺乏标本中共检出两种基因类型,其中包括G6PD A-变异体(c.376 A>G/c.202 G>A)186例(98.41%,186/189G6PD Betica(c.376 A>G/c.968T>C)3例(1.59%3/189)。结论赤道几内亚比奥科岛是G6PD缺乏症高发区,基因型比较单一。HRM技术可用于非洲地区G6PD缺乏症的临床诊断和流行病学研究。
Objective To investigate the incidence and genotype of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Bioko Island, Equatorial Guinea, western Africa. Methods From January to May 2012, 2 187 local residents in Bioko Island were screened for G6PD deficiency by fluorescent spotting. C.202 G> A and c.376 A> G of G6PD-deficient specimens were analyzed by High-resolution melting (HRM). The other G6PD-deficient samples that did not show any mutations in HRM were screened for other mutations in Africa: c.542 A> T (rs5030872), c.680 G> A (rs137852328), c.968 T> C (rs76723693) PCR-DNA sequencing was performed. Results The overall incidence of G6PD deficiency was 8.54% (189/2 187) in Bioko Island, Equatorial Guinea, with 84 (9.04%, 84/929) males and 105 females (8.34%, 105/1 258) , Male and female detection rate was 1.08: 1. Two genotypes were identified in 189 G6PD-deficient specimens, including 186 G6PD A-variants (c.376 A> G / c.202 G> A) (98.41%, 186/189 G6PD Betica A> G / c.968T> C) in 3 cases (1.59% 3/189) .Conclusion Bioko Island in Equatorial Guinea is a high prevalence area of G6PD deficiency and its genotype is relatively simple.HRM can be used in the clinical treatment of G6PD deficiency in Africa Diagnostic and epidemiological studies.