新生儿听力筛查与GJB2基因235delC突变筛查的联合实施

Combined application of neonatal hearing screening and GJB2 gene 235delC mutation screening

目的:探讨在常规新生儿听力筛查的同时实施GJB2基因235delC突变筛查的可行性。方法:对在华中科技大学同济医学院附属医院出生的1 245例新生儿进行常规听力筛查的同时,在知情同意的情况下,采集新生儿足跟血3 ml,提取DNA,针对GJB2基因235delC突变热点,进行聚合酶链式反应(Polymerase chain reaction,PCR)及限制性片段长度多态性(Restriction fragment length polymorphism,RFLP)分析,发现突变者进行测序验证。结果:发现7例新生儿具有GJB2基因235delC纯合突变,其中3例通过了常规听力筛查;另外9例通过了常规听力筛查的新生儿具有GJB2基因235delC杂合突变。结论:将GJB2基因235delC突变筛查和常规听力筛查联合应用于早期发现新生儿语前听力损失或迟发的听力损失,是一种有效的筛查策略。

Objective：To explore the feasibility of combined application of conventional neonatal hearing screening and GJB2 gene 235delC mutation screening. Methods：1 245 neonates born in the hospital received conventional neonatal hearing screening,on the basis of informed consent,the heel blood（3 ml） samples were obtained from the neonates,then DNA was abstracted,polymerase chain reaction（PCR） and restriction fragment length polymorphism analysis were performed targeted to GJB2 gene 235delC mutation hotspot,the neonates with mutation received DNA sequencing. Results：7 neonates were found with GJB2 gene 235delC homozygous mutation,and 3 neonates passed the conventional hearing screening;9 neonates passing the conventional hearing screening were found with GJB2 gene 235delC heterozygous mutation. Conclusion：Combined application of neonatal hearing screening and GJB2 gene 235delC mutation screening is an effective screening method in early discovery of neonatal prelingual hearing loss or delayed hearing loss.