中文摘要：

目的研究31例G6PD缺乏症患儿的基因突变类型,探讨基因型与临床表现的关系。方法应用二代测序技术进行基因测序,了解基因突变类型,并对临床资料进行回顾性分析。结果31例G6PD缺乏症患儿（男27例,女4例）参与基因检测,检出29例基因突变（男25例,女4例）,2例未检出突变,检出率为93.5%。单个基因位点突变28例,单基因突变率为96.6%,8例为c.G1388A（28.57%）,7例c.G1376T（25.00%）,4例c.G487A（14.29%）,4例c.G871A（14.29%）,2例c.A95G（7.14%）,2例c.C1024T（7.14%）,1例c.G392T（3.57%）。发现1例c.G1388A合并c.G77A（SNP：rs368832112）复合杂合突变,系国内首次报道,复合位点突变率3.4%。31例患儿临床表现主要为蚕豆病,或感染等因素诱发的溶血性贫血。结论本组G6PD缺乏症患儿的常见基因突变类型为G1388A、G1376T、G487A及G871A,临床表现为蚕豆等诱发的急性溶血性贫血。

英文摘要：

Objective To identify glucose-6-phosphate dehydrogenase（G6PD） gene mutations in 31 children with G6 PD deficiency and to explore its relationship with clinical characteristics.Methods G6 PD gene mutations of the blood from G6 PD patients were detected by using the next-generation DNA sequencing technology,and the clinical data were retrospectively analyzed.Results Among these 31 cases（male 27,female 4）,29 cases（male 25,female 4） were identified with gene mutations with mutation rate of 93.5%.28 of 29 cases,which account for 96.6%were single gene mutation,8 cases with G1388A（28.6%）,7 cases with G1376T（25.0%）,4 cases with G487A（14.3%）,4 cases with G871A（14.3%）,2 cases with A95G（7.1%）,2 cases with C1024T（7.1%）,1 case with G392T（3.6%）.One case had novel compound gene mutations（c.G1388 A and c.G77 A,SNP：rs368832112）,which was firsdy found in China.The chnical characteristics of 31 cases with G6 PD deficiency were Favism,or acute hemolytic anemia triggered by infection or other factors such as drugs,and so on.Conclusions G1388A、G1376T、G487A and G871 A are the most common gene mutations in childhood G6 PD patients in this group,with clinical characteristics of acute hemolytic anemia triggered by fava beans,infection,et al.