耳聋基因检测在孕前筛查中的应用

Application of deafness gene detection in progestational screening

目的探讨耳聋基因检测对孕前妇女筛查的应用意义。方法选择2015年1月-2016年6月在该院优生门诊咨询的孕前检查妇女,在知情同意原则下,应用实时荧光PCR法进行中国人常见的7个位点耳聋基因检测,根据结果进行优生指导。结果在631例孕前妇女检测中,共24例检测出基因突变,总突变率3.8%,其中SLC26A4基因IVS7-2 A>G杂合突变8例,2168 A>G杂合突变2例;GJB2基因299~300del杂合突变2例,235del C杂合突变11例,线粒体基因12S rRNA 1555A>G纯合突变1例。结论通过对孕前妇女进行耳聋基因检测,预防耳聋患儿出生有重要价值。

Objective To explore the significance of deafness gene detection in progestational screening.Methods The progestational women receiving consultation in Eugenic Outpatient in the hospital from January 2015 to June 2016 were selected,common seven deafness genes in Chinese were detected by real-time fluorescent PCR based on the principle of informed consent,eugenic guidance was conducted according to the results.Results Among 631 progestational women,24 women were diagnosed as gene mutations,accounting for 3.8%,including eight women with SLC26A4 gene 2VS7-2A〉G heterozygous mutation,two women with SLC26A4 gene 2168 A〉G heterozygous mutation,two women with GJB2 gene 299-300 del heterozygous mutation,eleven women with GJB2 gene 235 del C heterozygous mutation and one woman with mitochondrial gene 12 S rRNA 1555A〉G homozygous mutation.Conclusion Deafness gene screening conducted among the progestational women is valuable for prevention of neonatal deafness.