目的 阐明潮州地区葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症的发生率及G6PD基因的突变类型.方法 应用全自动生化分析仪速率法定量测定潮州地区4221名健康体检者的G6PD活性,应用膜反向斑点杂交法检测中国人6种常见的G6PD基因突变类型,应用DNA测序技术分析未知突变样本.结果 在4221名受检者中检出G6PD缺乏症患者142例,潮州地区G6PD缺乏症发生率为3.36％(142/4224),男、女发生率分别为2.33％(47/2013)和4.30％(95/2208).在142例G6PD缺乏症患者中发现12种G6PD基因突变类型,分别为c.1376G＞T、c.1388G＞A、c.1024C＞T、c.392G＞T、c.871G＞A、c.95A＞G、c.517T＞C、c.131C＞G、c.1376G＞T/c.517T＞C、c.871G＞A/ⅣS广1193T＞C/c.1311C＞T、c.1376G＞ T/ⅣS-11 93T＞C/c.1311C＞T和c.1376G＞T/c.486_34delT(rs3216174).结论 G6PD缺乏症在粤东潮州地区人群中的发生率明显低于广东客家人群;基因突变类型呈多样化,c.1376G＞T、c.1388G＞A、c.1024C＞T为潮州地区最常见的基因突变类型,c.517T＞C也较为常见,c.131C＞G为国内首次发现,c.1376G＞T/c.517T＞C和c.1376G＞T/c.486_34delT(rs3216174)为新的女性杂合子复合突变类型.%Objective To determine the incidence and molecular characteristics of G6PD deficiency in Chaozhou region of eastern Guangdong Province.Methods G6PD enzyme activity was assayed with an autobioanalyzer.Reverse dot blotting (RDB) was used for detecting 6 common G6PD mutations.Samples with no mutation detected by RDB were further sequenced for unknown mutations.Results The rate of G6PD deficiency was 3.36％ (142/4224).2.33％ (47/2013) of males and 4.3％ (95/2208) of females were affected.12 mutations were detected among the 142 patients,which included c.1376G＞T,c.1388G＞A,c.1024C＞T,c.392G＞T,c.871G＞A,c.95A＞G,c.517T＞C,c.131C＞G,c.1376G＞T/c.517T＞C,c.871G＞A/ⅣS-1193T＞C/c.1311C＞T,c.1376G＞T/ⅣS-11,93T＞C/c.1311C＞T and c.1376G＞T/c.486 34delT (rs3216174).Conclusion The incidence of G6PD deficiency in Chaozhou region was lower than that of the Hakka population of Guangdong Province,and the mutation types were diversely distributed in this region.c.1376G＞T,c.1388G＞A and c.1024C＞T were the most common mutations,which was followed by c.517T＞C.In addition,c.131C＞ G has been first discovered in the Chinese population.c.1376G＞T/c.517T＞ C and c.1376G＞ T/c.486_34delT (rs3216174) were new types of compound heterozygous mutations in females.
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