新生儿非综合征型聋常见耳聋基因突变研究

The study on common deafness gene mutation of nonsyndromic deafness

目的分析新生儿非综合征型聋常见耳聋基因突变状况。方法选取2016年1~12月在我院分娩的3702例新生儿,采集脐静脉血进行耳聋基因芯片检测,检测结果为阳性的患儿进行基因测序,GJB3基因位点不需要测序,进行遗传咨询;线粒体突变不需要测序,发药物性卡片,本研究共检测9个位点,包括GJB2基因位点(35)、GJB2基因位点(176)、GJB2基因位点(235)、GJB2基因位点(299)、GJB3基因位点(538)、SLC26A4基因位点(2168)、SLC26A4基因位点(IVS7-2)、线粒体12S r RNA基因位点(1555)、线粒体12S r RNA基因位点(1494),对检测结果进行统计分析。结果 152例新生儿阳性结果中,其中94例携带GJB2基因,携带率为2.5%,5例携带GJB3基因,携带率为0.13%,43例携带SLC26A4基因,携带率为1.16%,10例携带线粒体12S r RNA基因,携带率为0.27%。总携带率为4.11%。结论耳聋基因筛查有利于明确新生儿非综合征型聋的发病分子学基础,可为临床大规模筛查和辅助诊断新生儿非综合征型聋提供参考依据。

Objective To analyze the mutation of the common deafness gene in nonsyndromic deafness of the newborn.Methods Three thousand seven hunclred and two cases of newborns who delivered in our hospital from January 2016 to December were included.Umbilical vein blood was collected for detection of deafness by gene chip.Gene sequencing and genetic counseling were carried out in children with positive results.The GJB3 gene site didn’t need to be sequenced.Mitochondrial mutations didn't need to be sequenced.Drug-related cards were divided.In this study,nine gene sites were detected,including GJB2(35,176,235,299)gene sites,GJB3(538)gene site,SLC26A4(2168)gene site,SLC26A4(IVS7-2)gene site and mitochondrial 12S rRNA(1555,1494)gene sites.The test results were statistically analyzed.Results In the 152 positive neonates,94 cases carried GJB2 gene with carrying rate of 2.5%,5 cases carried GJB3 gene with carrying rate of 0.13%,43 cases carried SLC26A4 gene with carrying rate of 1.16%,and 10 cases carried the mitochondrial 12S rRNA gene with carrying rate of 0.27%.The total carrying rate was 4.11%.Conclusion Deafness gene screening could help to define the molecular basis of pathogenesis,and can be used as a reference for large scale clinical screening and auxiliary diagnosis of non syndromic deafness of newborn.