【摘要】 目的探讨遗传性耳聋基因芯片用于非综合征型耳聋患者检测的临床意义。方法采用遗传性聋基因芯片试剂盒对86例非综合征型耳聋患者基因组DNA的GJB2、SLC26A4、GJB3和mtDNA12s rRNA四个耳聋相关基因的9个致聋突变位点进行检测;对所有患者进行颞骨高分辨率CT(HRCT)、头颅MRI、内听道扫描,耳蜗水成像。结果在86例非综合征型耳聋患者中携带所检测热点耳聋相关基因突变者占51.16%;其中GJB2基因突变携带者24例(27.91%,24/86),GJB3基因突变携带者2例,SLC26A4基因突变携带者19例,颞骨CT均显示前庭水管扩大,而且均伴有耳蜗发育畸形,表现为蜗顶发育不全;mtDNA12s rRNA基因突变0例,考虑与样本量少有关。结论遗传性聋基因芯片试剂盒可以考虑作为新疆地区耳聋患者的快速诊断方法,但基因测序法应作为必要补充。大前庭水管综合征患者的SLC26A4基因检测结果与其颞骨影像学检查结果吻合。更多还原

【Abstract】 Objective To investigate the value of deafness gene chip testing in patients with non-syndromic deafness. Methods Using a deafness gene chip kit capable of detecting 9 mutation sites in four deafness-associated genes (SLC26A4, GJB3, GJB2 and mtDNA12s rRNA), 86 patients with non-syndromic deafness were tested. All patients received imaging studies of the temporal bone, brain and internal auditory canal as well as cochlear fluid imaging. Results Among these 86 pa tients with non-syndromic deafness, 51.16% were found to carry hotspot mutations of deafness associated genes, involving the GJB2 gene (n=24, 27.91%), the GJB3 gene (n=2) and the SLC26A4 gene (n=19) with enlarged vestibular aqueducts on temporal bone CT and cochlear malformations (apical turn hypoplasia). There was no mtDNA12s rRNA gene mutation, possi bly related to the small sample size. Conclusion Deafness gene chip kit can be used for screening of hotspot mutations in the multi-ethnic region of Xinjiang, although gene sequencing should be a necessary complement. SLC26A4 gene test results in patients with large vestibular aqueduct syndrome are consistent with their temporal bone imaging findings.更多还原