孕期女性常见致聋基因筛查

Analysis of deafness gene in severe-profound hearing loss patients in Cangzhou

目的调查孕期女性致聋基因携带率。方法应用基因芯片技术,对就诊于产科的孕期女性进行聋病基因筛查。结果 347名受试者中有16人检出基因突变,检出率为4.61%,其中GJB2突变8人,检出率为2.30%,5人为235delc杂合突变,3人为299del AT杂合突变;SLC26A4突变8人,检出率为2.30%,均为IVS7-2A>G单杂合突变。上述16名受试者的丈夫均进行致聋基因筛查并测序,结果1对夫妇为SLC26A4 IVS7-2A>G单杂合突变,1对夫妻为GJB2 299del AT单杂合突变,均进行羊水穿刺,胎儿均未获得父母携带的致聋基因。结论应将耳聋基因筛查列入产前筛查项目,可初步实现遗传性耳聋的一级预防,减少聋儿出生。

Objective：To investigate the carrier rates of common causative deaf genes among pregnant women. Methods：347 pregnant women were offered a free screening of common causative deaf genes at their perinatal visits. Results：Of the 347 women,16（4.61%）were found to be deaf genes carriers. In the 16 women,8 were found to be GJB2 carriers and 8 were SLC26A4 carriers. These 16 carriers were advised to have their husbands tested for possible carrier status. Two couples were found to carry the same deaf genes. Conclusions：In the prenatal counseling setting,screening of deaf genes is a desirable primary prevention measure.