中文摘要：

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。

英文摘要：

Objective To investigate the prevalence and genotypes of the GIucose-6-phosphate dehydrogenase（G6PD） deficiency on Bioko Island of Equatorial Guinea.Methods 2 187 local people were screened for G6 PD deficiency by fluorescent spot test（FST） during January 2012 to May 2012.Then,all the screening positive samples were subjected to genotype through high-resolution melting（HRM） assay as G6 PD A- variant（c.202 G 〉A/c.376 A〉 G）.The samples,which showed negative for HRM,were further detected for common African G6 PD mutations including c.542 A T（rs5030872）,c.680 G A（rsl37852328）and c.968 T 〉C（rs76723693） by PCR-DNA sequencing.Results The prevalence of G6 PD deficiency an Bioko Island was 8.64%（189/2 187） including 84（9.04%,84/929） males and 105（8.34%,105/1 258）females,respectively.The detected ratio of male and female was 1.08：1.Two genotypes were found among189 screening positive samples based on FST,including 186 cases of G6 PD A variant（c.376 A〉 G/c.202G 〉A）（98.41%,186/189） and 3 cases of Betica（c.376 A 〉G/c.968 T 〉C）（1.59%,3/189）,respectively.Conclusion The prevalence of G6 PD deficiency was high on Bioko Island,and the genotypes of G6 PD were relatively simple.At the same time,the HRM technology should be used in clinical and epidemiological studies in African region.