| Frequency of mitochondrial 12S rRNA gene A1555G and 961 insC mutations among children with sensorineural deafness in China |
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| 作者姓名： | Xia Xu Guangqian Xing Qinjun Wei Zhibin Chen Hongbo Cheng Xin Cao Xingkuan Bu |
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| 作者单位： | [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 |
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| 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 1 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 961insC 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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| 关 键 词： | 频率 线立体 基因突变 感觉神经 耳聋 |
| 收稿时间： | 2006-04-04 |
Frequency of mitochondrial 12S rRNA gene A1555G and 961 insC mutations among children with sensorineural deafness in China |
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| 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].Acta Universitatis Medicinalis Nanjing,2006,20(5):283-286. |
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| Authors: | Xia Xu Guangqian Xing Qinjun Wei Zhibin Chen Hongbo Cheng Xin Cao Xingkuan Bu |
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| 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 961insC 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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| Keywords: | mitochondrial DNA 12S rRNA gene mutation hearing loss |
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