南京医科大学学报（英文版）2006，Vol.20Issue(5)：283-286,4.
Frequency of mitochondrial 12S rRNA gene A1555G and 961 insC mutations among children with sensorineural deafness in China
Frequency of mitochondrial 12S rRNA gene A1555G and 961 insC mutations among children with sensorineural deafness in China
Xia Xu 1Guangqian Xing 2Qinjun Wei 1Zhibin Chen 2Hongbo Cheng 1Xin Cao 1Xingkuan Bu2
作者信息
- 1. Department of Cell Biology and Medical Genetics, Nanjing Medical University, Nanjing 210029,China
- 2. Department of Otorhinolaryngology,the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
- 折叠
摘要
Abstract
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.关键词
mitochondrial DNA/12S rRNA gene mutation/hearing lossKey words
mitochondrial DNA/12S rRNA gene mutation/hearing loss分类
医药卫生引用本文复制引用
Xia Xu,Guangqian Xing,Qinjun Wei,Zhibin Chen,Hongbo Cheng,Xin Cao,Xingkuan Bu..Frequency of mitochondrial 12S rRNA gene A1555G and 961 insC mutations among children with sensorineural deafness in China[J].南京医科大学学报（英文版）,2006,20(5):283-286,4.
