【摘要】 目的了解怀化少数民族地区新生儿葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症的基因突变类型,分析各突变型的发生率。方法用荧光分析法对2016年1月-2017年5月新生儿及门诊疑似病例进行G6PD缺乏症筛查,采用时间飞行质谱生物芯片系统(Massarray)检测阳性病例常见突变位点;对未检测出常见突变的样本采用Sanger测序技术进行基因检测,统计其突变频率。结果 295例初筛阳性样本中,使用Massarray技术检测出7种常见突变,包括c.1388G>A(89例)、c.1376G>T(50例)、c.1024C>T(41例)、c.95A>G(34例)、5.c.871G>A(32例)、c.1004C>A(1例)、c.487G>A(1例);Sanger测序检出11种单个位点突变,包括c.854G>A(1例,国内罕见)、c.25C>T(1例)、c.305T>G(1例)、c.485+3A>G(1例)、c.733G>T(1例)、c.-8-635C>T(1例)、c.-9+505_-9+534dup(1例)、c.1094G>A(1例)、c.1164C>T(1例)、c.1288-11 C>T(1例)、o.486-34de1T(2例);复合突变c.1376G>T/1388G>A(1例);c.835A>G/c.486-34del T、c.871G>A/c.95A>G、c.1024C>T/c.95A>G及c.486-34del T/c.241C>T各1例;其余30例未检测出基因突变。结论本研究共检测出18种G6PD缺乏症单个基因位点突变,且在国内G6PD缺乏症中首次报道了c.854G>A突变类型。C.1388G>A(33.58)、c.1376G>T(18.87)、c.1024C>T(15.47)、c.95A>G(12.83)、c.871G>A(12.08)共占92.83%,是怀化地区新生儿G6PD缺乏症的热点基因突变类型,与国内报道一致。更多还原

【Abstract】 Objective:The aim of the study is to investigate the gene mutation types and their incidence of the glucose-6-phosphate dehydrogenase(G6 PD)deficiency in neonates of Huaihua minority nationality regions. Method:newborn screening project and clinical diagnosing suspected patients were screened for G6 PD deficiency by fluorescence spot test from January 2016 to May 2017,Massarray method was used to detect common gene mutation sites and Sanger sequencing was used to identify mutation types of samples in which common mutations were not detected. Results:295 cases were positive for G6 PD deficiency in preliminary screening,among them,7 kinds of mutation were found by Massarray method:c.1388 G>A(89 cases),c.1376 G>T(50 cases),c.1024 C>T(41 cases),c.95 A>G(34 cases),c.871 G>A(32 cases),c.1004 C>T(1 case),c.487 G>A(1 case);Besides,11 additional mutations were found by Sanger sequencing:c.854 G>A(1 case,has not been reported in china),c.25 C>T(1 case),c.305 T>G(1 case),c.485+3 A>G(1 case),c.733 G>T(1 case),c.-8-635 C>T(1 case),c.-9+505_-9+534 dup(1 case),c.1094 G>A(1 case),c.1164 C>T(1 case),c.1288-11 C>T(1 case),o. 486-34 de1 T(2 cases);c.1376 G>T combined with c.1388 G>A(1 case),c.835 A>G combined with c.486-34 del T(1 case),c.871 G>A combined with c.95 A>G(1 case),c.1024 C>T combined with c.95 A>G(1 case),and c.486-34 del T combined with c.241 C>T(1 case). No mutation was found in other 30 neonates.Conclusion:In this study,18 mutation types of G6 PD deficiency were found. Interestingly,c.854 G>A is a novel mutation,which is firstly reported in China. The incidence of C.1388 G>A(33.58%),c.1376 G>T(18.87%),c.1024 C>T(15.47%),c.95 A>G(12.83%),c.871 G>A(12.08%)accounted for 92.83%,thus these mutation types were the most common mutations in Huaihua minority nationality areas.The hotspots of mutation of G6 PD deficiency are consistent with other reported regions in China.更多还原