摘要
目的分析极重度感音神经性耳聋患者的耳聋基因检测结果。方法选取150例极重度非综合征型耳聋患者,采用遗传性耳聋基因芯片试剂盒,对基因组DNA的GJB2、SLC26A4、GJB3和mtDNA12srRNA四个耳聋相关基因的9个致聋突变位点进行检测;对所有患者进行颞CT、内耳水成像MRI扫描。结果在150例极重度非综合征型耳聋患者中检出耳聋相关基因突变者82例,占54.67%;其中GJB2基因突变41例(27.33%);SLC26A4基因突变35例(23.33%);mtDNA12srRNA基因突变6例(4%)。结论遗传因素是极重度感音神经性耳聋患者的主要致病原因,GJB2和SLC26A4是主要的致病基因。
Objective Genetic testing results analysis of very severe sensorineural deafness patients. Methods 150 cases of extremely severepatients with non syndromic deafness, the genetic deafness gene chip kit forgenomic DNA, GJB2, SLC26A4, GJB3 and mtDNA12s rRNA four deaf related gene 9 deafness mutation sites were detected; the temporal CT, inner waterimaging MRI scanning were performed in all patients. Results In 150 cases of severe non syndromic deafness associated mutations were detected,deafness patients accounted for 54.67%;the GJB2 gene mutation in 41 cases（27.33%）;SLC26A4 gene mutation in 35 cases （23.33%）;mtDNA12s rRNA gene mutation in 6 cases（4%）. Conclusion Genetic factors are themain causes of a severe sensorineural deafness patients, GJB2 and SLC26A4 are the main pathogenic gene.
出处
《中国医药指南》
2015年第2期38-39,共2页
Guide of China Medicine
