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目的通过对听力下降或听力异常的15个家系进行常见耳聋基因进行检测,探讨听力状况与耳聋基因突变的相关性。方法对听力下降或听力障碍的人群干血片标本,应用微阵列芯片法对常见耳聋基因GJB2(35del G、176del16、235del C、299del AT)、GJB3基因(538C>T)、SLC26A4基因(IVS7-2A、2168A>G)、线粒体DNA12Sr RNA基因(1555A>G、1494C>T)进行检测。结果 15个家系共发现突变位点37个,其中GJB2突变共20例,占54.05%(20/37),其中35del G 1例,176del16 2例,235del C 11例,299del AT 7例,通过测序检出427C>T 1例。SLC26A4突变13例,占35.14%(13/37),其中2168A>G 4例,IVS7-2A 7例,通过测序检出317C>A 2例。线粒体DNA12Sr RNA 1555A>G均质突变2例,占5.40%(2/37),未发现GJB3基因突变。结论常见耳聋基因在听力障碍患者中比例很高,早发现,早诊断,早干预,对有明显听力障碍患者应进一步更多位点的检测,明确诊断,通过遗传咨询,对耳聋的诊断及再生评估有重要指导意义。
Objective To detect the common deafness gene in 15 families with hearing loss or hearing loss to investigate the correlation between hearing status and deafness gene mutation. Methods Dry blood samples from people with hearing loss or hearing impairment were used to detect the common deafness gene GJB2 (35del G, 176del16, 235del C, 299del AT), GJB3 gene 538C> T, SLC26A4 gene IVS7- 2A, 2168A> G), mitochondrial DNA12SrRNA gene (1555A> G, 1494C> T). Results A total of 37 mutations were found in 15 families, of which 20 were GGB2 mutations (54.05%, 20/37), including 35del G in 1 case, 176del16 in 2 cases, 235del C in 11 cases and 299del AT in 7 cases. 427C> T 1 cases were detected. SLC26A4 mutations in 13 cases, accounting for 35.14% (13/37), including 2168A> G 4 cases, IVS7-2A 7 cases 317C> A 2 were detected by sequencing. Mitochondrial DNA 12Sr RNA 1555A> G homogeneous mutation in 2 cases, accounting for 5.40% (2/37), did not find GJB3 gene mutation. Conclusion The common deafness gene is very high in hearing-impaired patients. Early detection, early diagnosis and early intervention are needed to detect further deafness gene in patients with obvious hearing impairment, to make a definite diagnosis, to diagnose and regenerate deafness through genetic counseling Assessment has important guiding significance.