文章摘要
卜云飞,吕晓光,汪〓洋,鲁雅洁,陈智斌,魏钦俊.22例非综合征型耳聋患者的致病基因突变位点分析[J].南京医科大学学报,2010,(3):390~393
22例非综合征型耳聋患者的致病基因突变位点分析
Analysis of gene mutation in 22 cases of non-syndromic hearing loss
投稿时间:2009-10-23  
DOI:10.7655
中文关键词: 非综合征型耳聋  GJB2基因  SLC26A4基因  12SrRNA基因  基因诊断
英文关键词: NSHL  GJB2 gene  SLC26A4 gene  12SrRNA gene  genetic diagnosis
基金项目:江苏省高等学校大学生实践创新训练计划2008年立项资助项目(NO.267),南京医科大学校基金(09NJMUM005)资助
作者单位
卜云飞 南京医科大学生物技术系,江苏 南京〓210029 
吕晓光 南京医科大学生物技术系,江苏 南京〓210029 
汪〓洋 南京医科大学生物技术系,江苏 南京〓210029 
鲁雅洁 南京医科大学生物技术系,江苏 南京〓210029 
陈智斌 南京医科大学第一附属医院耳鼻咽喉科,江苏 南京〓210029 
魏钦俊 南京医科大学生物技术系,江苏 南京〓210029 
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中文摘要:
      目的:对遗传性非综合征型耳聋患者进行中国人常见的耳聋相关基因的突变分析,以明确其分子病因?方法:门诊收集非综合征耳聋患者22名的外周血样本,常规方法提取基因组DNA,PCR扩增GJB2基因和线粒体12SrRNA基因全序列,以及SLC26A4基因7+8外显子和19外显子序列?所有PCR扩增产物经DNA测序分析,测序结果提交NCBI GenBank数据库进行比对,从而对耳聋相关基因的突变进行分析?结果:22名非综合征耳聋患者中共检测到3种GJB2基因的突变:235delC纯合突变2例;235delC杂合突变3例及176del16bp和299delAT复合突变1例;mtDNA 12SrRNA基因检出有2种已知致病突变:A1555G 2例和C1494T 2例;SLC26A4基因有IVS7-2A>G杂合突变2例,纯合突变1例?结论:PCR扩增结合DNA测序是耳聋基因诊断的经典和有效的方法,能确诊非综合征型耳聋患者的分子病因,为临床诊断和治疗提供依据?但该方法存在不能定性?耗时费力?所需成本昂贵且不能同时对不同基因的多个突变位点进行检测等缺点?因此,临床的耳聋基因诊断,需要操作简便?结果准确?通量高?价格低廉的新手段?
英文摘要:
      Objective:To investigate the mutation of non-syndromic sensorineural hearing loss (NSHL) and identify its molecular etiopathogenisis. Methods:Peripheral blood samples were obtained from 22 NSHL patients collected by out-patient clinic. Their genomic DNA were extracted from peripheral blood by extraction kits to undergo polymerase chain reaction and sequencing so as to detect the mutations of GJB2,SLC26A4 and mitochondrial 12SrRNA gene. Results:Of 22 patients,three mutations of GJB2 gene were found:2 have GJB2 235delC heterozygous mutation,2 have 235delC homozygous mutation and 1 have 176del16bp+299delAT double mutation;2 mutaions was found out in MtDNA 12SrRNA gene:C1494T and A1555G;SLC26A4 gene have 1 IVS7-2 homozygous and 2 heterozygous mutations. Conclusion:The PCR combined DNA sequencing is a classic and effective method in genetic diagnostic of hereditary deafness,able to identify the molecular etiopathogenisis of NSHL. But this method exist many shortcomings,such as unable to qualitate,time and money consuming. Furthermore,it can not detect multiple mutations of different genes at the same time. Therefore,a new method,which has advantages in genetic diagnosis of NSHL,such as low time and money consuming,high performance and accuracy,must to be developed. These advantages make it fit to be used in clinic gene testing of hereditary deafness.
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