摘要
目的了解广西壮族自治区(简称广西)新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发病情况以及基因携带情况,为临床遗传咨询及精准诊断提供理论依据。方法以广西新生儿疾病筛查中心2017年1月至2018年12月行G6PD筛查的63606例新生儿作为研究对象,采集足跟血制备干血斑。初筛采用荧光定量分析法,对初筛阳性新生儿进行电话召回;进一步确诊采用G6PD/6-磷酸葡糖酸脱氢酶(6PGD)比值法和基因检测,对初筛阳性新生儿两种方法的确诊率进行比较分析,以及进行基因突变检测。结果63606例行G6PD初筛的新生儿中,检出G6PD阳性新生儿4267例,初筛阳性率为6.7%。其中,男、女性G6PD初筛阳性率分别为10.3%(3508/33988)、2.6%(759/29618),男性初筛阳性率明显高于女性(P<0.01)。对召回的同时行G6PD/6PGD比值法和基因检测的777例新生儿(男性519例、女性258例)进行比较分析,男性新生儿两种方法的确诊率一致,均为95.6%(496/519)。女性新生儿中,G6PD/6PGD比值法、基因检测分别检出确诊病例168、236例,确诊率分别为65.1%(168/258)、91.5%(236/258)。基因突变检测结果表明,广西5种常见基因型分别为c.1388 G>A、c.1376 G>T、c.95 A>G、c.871 G>A、c.1024 C>T。结论广西新生儿G6PD初筛阳性率较高。对初筛阳性的女性新生儿建议同时行G6PD/6PGD比值法和基因检测确诊,以避免漏诊和误诊的发生。
Objective To study the incidence of glucose-6-phosphate dehydrogenase(G6PD)deficiency and the gene carrying status of newborns in Guangxi Zhuang Autonomous Region(Guangxi for short),so as to provide theoretical basis for clinical genetic counseling and accurate diagnosis.Methods A total of 63606 newborns who underwent G6PD screening in Guangxi Neonatal Disease Screening Center from January 2017 to December 2018 were selected as study subjects;heel blood was collected to prepare dry blood spots.Fluorescence quantitative analysis was used in the preliminary screening,and the newborns with positive preliminary screening were recalled by telephone;further diagnosis was carried out via the G6PD/6-phosphogluconate dehydrogenase(6PGD)ratio method and genetic testing,the diagnosis rate of the two methods of newborns with positive preliminary screening were compared and analyzed,and genetic mutation testing was conducted.Results Among 63606 newborns who underwent G6PD preliminary screening,4267 newborns with G6PD positive were detected,and the positive rate of preliminary screening was 6.7%.Among them,the positive rates of preliminary screening of males and females were 10.3%(3508/33988)and 2.6%(759/29618),respectively.The positive rate of preliminary screening of males was significantly higher than that of females(P<0.01).A comparative analysis of 777 newborns(519 males and 258 females)that underwent G6PD/6PGD ratio method and genetic testing at the same time as the recall showed that the diagnosis rate of the two methods for male newborns was the same,both of which were 95.6%(496/519).Among female newborns,168 and 236 confirmed cases were detected by G6PD/6PGD ratio method and genetic testing,respectively,and the diagnosis rates were 65.1%(168/258)and 91.5%(236/258),respectively.The results of genetic mutation testing showed that the five common genotypes in Guangxi were c.1388 G>A,c.1376 G>T,c.95 A>G,c.871 G>A,and c.1024 C>T,respectively.Conclusions The positive rate of G6PD preliminary screening of newborns in Guangxi is relatively high.It is recommended that G6PD/6PGD ratio method and genetic testing should be performed at the same time for diagnosis of female newborns with positive preliminary screening to avoid missed diagnosis and misdiagnosis.
作者
俸诗瀚
黄丽梅
蒋婷婷
欧阳鲁平
阳奇
耿国兴
Feng Shihan;Huang Limei;Jiang Tingting;Ouyang Luping;Yang Qi;Geng Guoxing(Center of Genetic and Genomic Medicine,the Second Affiliated Hospital of Guangxi Medical University,Nanning 530007,China;Laboratory of Genetic Metabolism Center,the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,China)
出处
《中华地方病学杂志》
CAS
北大核心
2021年第11期927-931,共5页
Chinese Journal of Endemiology
基金
国家科技部重点专项(2017YFC1001703)
广西壮族自治区医疗卫生自筹经费科研课题(Z20200669)
广西医科大学第二附属医院高层次人才引进与培育科研经费(2019112)。
