文章摘要
Xia Xu,Guangqian Xing,Qinjun Wei,Zhibin Chen,Hongbo Cheng,Xin Cao,Xingkuan Bu.[J].南京医科大学学报,2006,20(5):283~286
Frequency of mitochondrial 12S rRNA gene A1555G and 961 insC mutations among children with sensorineural deafness in China
  
DOI:10.7655
中文关键词: 
英文关键词: mitochondrial DNA%12S rRNA gene mutation%hearing loss
基金项目:
Xia Xu  Guangqian Xing  Qinjun Wei  Zhibin Chen  Hongbo Cheng  Xin Cao  Xingkuan Bu
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中文摘要:
      
英文摘要:
      Objective: To investigate the frequency of mitochondrial 12S rRNA gene A1555G and 961 insC mutations among Chinese with sensorineural deafness. Methods: Blood samples from 78 sporadic cases with sensorineural deafness were obtained and DNA was extracted from the leukocytes, then the mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR). The 1555G mutations were detected by BsmA I restriction endonuclease digestion, every fragment was analyzed by sequencing; All the 961 insC mutation were detected by direct sequencing. Results: The percent age of A1555G mutation and mt961C insertion were 6.4﹪ and 2.6﹪ in the hearing-impaired Chinese subjects respectively. Conclusion: A1555G and 96linsC mutations in mitochondrial DNA 12S rRNA gene regions may play a role in the pathogenesis of hearing loss in the sporadic cases.
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