摘要目的 探讨孕前耳聋基因突变筛查对于预防和干预先天性耳聋的价值.方法 应用实时荧光定量PCR技术,对2 168对行孕前检查且听力正常的夫妇共4 336人进行GJB2(c.235 del C、c.299-300 delAT)、线粒体DNA 12S rRNA(c.1494 C＞T、c.1555 A＞G)和SLC26A4 (c.2168 A＞G、c.IVS7-2 A＞G)基因的6个致聋突变进行筛查,对双方均携带杂合突变的6对夫妻进行孕中期产前诊断.结果 在4 336人中,共检测出176例突变携带者,总携带率为4.06％,其中GJB2基因c.235 del C位点突变率为0.91％、c.299-300 delAT位点突变率为0.20％;SLC26A4基因c.IVS7-2 A＞G位点突变率为0.68％、c.2168 A＞G位点突变率为0.11％;线粒体DNA 12S rRNA基因c.1555 A＞G位点突变率为0.1％、c.1494 C＞T位点突变率为0.01％.6对双方携带同一基因杂合突变夫妇的产前诊断结果提示6例胎儿染色体核型均正常,测序结果显示2例胎儿携带GJB2基因c.235 del C纯合突变,1例携带GJB2基因c.235 del C杂合突变,1例携带GJB2基因c.299-300 del AT杂合突变,2例携带SLC26A4基因c.IVS7-2A＞G杂合突变.结论 孕前耳聋基因突变筛查能够对先天性耳聋进行产前诊断和早期预防,有效降低遗传性耳聋的发病率.

abstractsObjective To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness.Methods In this study,2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR.The mutations have included GJB2 c.235delC and c.299-300delAT,SLC26A4 c.2168A＞G and c.IVS7-2A＞G,and mtDNA 12SrRNA c.1494C＞T and c.1555A＞G.For couples who have both carried heterozygous mutations of the same gene,genetic counseling and prenatal diagnosis were provided.Results Among of the 4 336 individuals,178 (4.06％) were found to carry a mutation.Mutation rate for c.235delC and c.299-300delAT ofGJB2 gene,c.IVS7-2 A＞G and c.2168 A＞G ofSLC26A4 gene,c.1555 A＞Gand c.1494 C＞T of DNA 12S rRNA gene were 0.91％,0.20 ％,0.68％,0.11％,0.1％ and 0.01％,respectively.For six couples who have both carried mutations of the same gene,all fetuses showed a normal karyotype,while DNA sequencing indicated that two fetuses have carried homzygous c.235delC mutation of the GJB2 gene,one carried a heterozygous c.235delC mutation of the GJB2 gene,one carried heterozygous mutation of GJB2 gene (c.299-300delAT),and two have carried a heterozygous mutation of c.IVS7-2A＞G of the SLC26A4 gene.Conclusion Pre-gestational screening for deafness gene mutation can facilitate avoidance the birth of affected children and has a great clinical value for the prevention and intervention of birth defect.