基因芯片联合二代测序技术在产前耳聋基因筛查中的应用价值

Application value of gene chip combined with second generation sequencing technology in prenatal deafness gene screening

目的探究基因芯片(GC)联合二代测序技术(NGS)检测在产前耳聋基因筛查中的应用价值。方法选取2016年1月到2018年1月在我院产前筛查中心行孕妇外周血耳聋基因芯片及二代测序技术检测的孕妇及其新生儿资料。使用自身对照法,回顾性分析GC、NGS筛查和两者联合使用三种方法之间的准确率、灵敏度以及特异度等指标。结果全部病例420例,有效随访者360例,最终确诊为携带耳聋突变基因孕妇为18例,发病率为5.0%。其中GJB2基因突变11例(包括6例235delC和5例299-300delAT位点突变),携带率为3.1%(11/360);GJB3基因突变3例(包括2例538C>T和1例1555A>G位点突变),携带率为0.8%(3/360);SLC26A4(PDS基因突变4例(均为IVS7-2A>G位点突变),携带率为1.1%(4/360)。结论 GC联合NGS法应用于产前耳聋基因的筛查,可提高其诊断准确率和特异度,具有较高的临床应用价值,值得进一步推广使用。

Objective:Explore the value of gene chip(GC)combined with second-generation sequencing technology(NGS)in the screening of prenatal deafness genes.Methods:The data of pregnant women and their newborns were collected from the pregnant women′s peripheral blood lobe gene chip and the second generation sequencing technology from January 2016 to January 2018 in our prenatal screening center.Using self-control methods,retrospective analysis of GC,NGS screening,and the combination of the three methods used in the three methods of accuracy,sensitivity and specificity.Results:There were 420 cases in all cases and 360 cases were effectively followed up.The final diagnosis was 18 cases of pregnant women with deafness mutation gene,the incidence rate was 5.0%.Among them,11 cases of GJB2 gene mutation(including 6 cases of 235 delC and 5 cases of 299-300 delAT site mutation),the carrying rate was 3.1%(11/360);3 cases of GJB3 gene mutation(including 2 cases of 538 C>T and 1 case of 1555 A>G site mutation),carrying rate of 0.8%(3/360);SLC26 A4(PDS gene mutation in 4 cases(all IVS7-2 A>G site mutation),the carrying rate was 1.1%(4/360).Conclusion:The GC combined with NGS method is applied to the screening of prenatal deafness genes,which can improve the diagnostic accuracy and specificity.It has high clinical application value and is worthy of further promotion.