鲁东南地区317681例新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查及基因型调查

Screening and Genotype Survey of 317681 Neonates with Glucose-6-phosphate Dehydrogenase Deficiency in the Southeast Area of Shandong

目的调查鲁东南地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症的患病率及基因突变类型。方法荧光分析法检测2016年5月—2017年12月在鲁东南地区出生的317681例新生儿葡萄糖-6-磷酸脱氢酶活性,对检测阳性标本,用多色探针荧光PCR熔解曲线法进行基因分型。结果荧光分析法检测出109例阳性患儿,患病率为0.343‰。男性患儿107例,患病率为0.337‰,女性患儿2例,患病率为0.063‰,男患儿的患病率显著高于女患儿。调查并获得患儿母亲的籍贯和民族:汉族母亲97例;壮族母亲4例;黎族和傣族母亲各2例;景颇族母亲1例;另有3例患儿母亲民族不明。山东籍母亲60例;广西籍母亲12例;云南籍母亲10例;广东籍母亲6例;缅甸、贵州和海南籍母亲各3例;江苏、河南、越南和四川籍母亲各2例;柬埔寨、泰国和福建籍母亲各1例。荧光PCR熔解曲线法检测出66例患儿的10种基因突变类型,分别是c.1388G>A、c.1376G>T、c.487G>A、c.1024C>T、c.95A>G、c.1360C>T、c.871G>A、c.592C>T、c.392G>T和c.1004C>A,其中1388G>A(25.8%)、c.1376G>T(21.2%)和c.487G>A(13.6%)是主要的突变类型。结论鲁东南地区G6PD缺乏症患病率较低,基因突变类型及比例有其自身特点,有必要建立本地区基因突变数据库。

Objective To investigate the prevalence and gene mutation types of glucose-6-phosphate dehydrogenase deficiency in newborns in the southeast area of?Shandong.Methods Fluorescence analysis method was used to detect the glucose-6-phosphate dehydrogenase activity of 317681 newborns born in the southeast area of Shandong between May 2016 to December 2017.For positive samples,the melting curve method of multicolor probe fluorescence PCR was performed for genotyping.Results 109 cases of positive children were detected by fluorescence analysis,and the prevalence was 0.343‰.The origin and ethnicity of the mothers of the children were investigated and obtained:97 cases of Han mothers;4 cases of Zhuang mothers;2 cases of Li and Dai mothers;1 case of Jingpo mothers;and 3 cases of unknown mothers.60 cases of mothers of Shandong origin;12 cases of mothers of Guangxi origin;10 cases of mothers of Yunnan origin;6 cases of mothers of Guangdong origin;3 cases of mothers of Myanmar,Guizhou and Hainan origin;2 cases of mothers of Jiangsu,Henan,Vietnam and Sichuan origin;there was one case each from Cambodia,Thailand and one Fujian mother.The fluorescence PCR melting curve method detected 10 gene mutation types in 66 children,which were c.1388G>A,c.1376G>T,c.487G>A,c.1024C>T,c.95A>G,c.1360C>T,c.871G>A,c.592C>T,c.392G>T and c.1004C>A.Among them,1388G>A(25.8%),c.1376G>T(21.2%)and c.487G>A(13.6%)were the main types of mutations.Conclusion The prevalence of G6PD deficiency in southeast Shandong is relatively low,and the types and proportions of gene mutations have their own characteristics.It is necessary to establish a gene mutation database in this region.