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| 实时荧光定量PCR在周围髓鞘蛋白22基因重复或缺失检测中的应用 | |
| 引用本文： | 张付峰,唐北沙,沈岩,赵国华,夏昆,赵一强,陈彪,张成,潘乾,蔡芳,刘小民,罗巍,张如旭,郭鹏.实时荧光定量PCR在周围髓鞘蛋白22基因重复或缺失检测中的应用[J].中华医学遗传学杂志,2005,22(5):537-540. |
| 作者姓名： | 张付峰 唐北沙 沈岩 赵国华 夏昆 赵一强 陈彪 张成 潘乾 蔡芳 刘小民 罗巍 张如旭 郭鹏 |
| 作者单位： | 1. 410008,长沙,中南大学湘雅医院神经内科;中国医学遗传学国家重点实验室 2. 国家人类基因组北方研究中心 3. 410008,长沙,中南大学湘雅医院神经内科 4. 中国医学遗传学国家重点实验室 5. 首都医科大学北京宣武医院神经内科老年病研究所 6. 中山大学附属第一医院神经内科 7. 浙江大学第二附属医院神经内科 |
| 基金项目： | 国家自然科学基金（30300200）;国家863计划项目（2004AA227040）. |
| 摘 要： | 目的 应用实时荧光定量PCR在腓骨肌萎缩症和遗传性压力易感性神经病患者中检测周围髓鞘蛋白22基因（peripheral myelin protein 22，PMP22）重复或缺失。方法 采用实时荧光定量PCR检测113个腓骨肌萎缩症家系先证者、4个遗传性压力易感性神经病家系先证者和50名正常人PMP22基因重复或缺失突变。结果 113个腓骨肌萎缩症家系中发现有36个存在PMP22基因重复，4个遗传性压力易感性神经病先证者均存在PMP22基因缺失，50名正常人未发现异常。结论 我国PMP22基因重复突变的致病频率为31．9％（36／113），PMP22基因缺失突变是遗传性压力易感性神经病常见的致病原因。 |
| 关 键 词： | 实时荧光定量PCR 周围髓鞘蛋白22 基因重复 基因缺失 遗传性压力易感性神经病 |
| 收稿时间： | 2004-11-16 |
| 修稿时间： | 2004年11月16 |
Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR |
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| ZHANG Fu-feng,TANG Bei-sha,SHEN Yan,ZHAO Guo-hua,XIA Kun,ZHAO Yi-qiang,CHEN Biao,ZHANG Cheng,PAN Qian,CAI Fang,LIU Xiao-min,LUO Wei,ZHANG Ru-xu,GUO Peng.Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR[J].Chinese Journal of Medical Genetics,2005,22(5):537-540. | |
| Authors: | ZHANG Fu-feng TANG Bei-sha SHEN Yan ZHAO Guo-hua XIA Kun ZHAO Yi-qiang CHEN Biao ZHANG Cheng PAN Qian CAI Fang LIU Xiao-min LUO Wei ZHANG Ru-xu GUO Peng |
| Institution: | 1.Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China; 2. National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410008 P. R. China ; 3. China National Center of Hurntm Genome Research, Beijing , 100005 P. R. China; 4. Department of Neurology, Beijing Geriatrics Institute, Xuanwu Hospital of Capital University of Medical Sciences, Beijing , 100053 P. R. China ; 5. Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510089 P. R. China ; 6. Department of Neurology , Second Affiliated Hospital, Medical College of Zhejiang University, Hangzhou , Zhejiang ,310003 P. R. China |
| Abstract: | Objective To detect the duplication or deletion of peripheral myelin protein 22 (PMP22) gene in Chinese patients with Charcot-Marie-Tooth disease(CMT) or hereditary neuropathy with liability to pressure palsies(HNPP) using real-time quantitative polymerase chain reaction. Methods Duplications or deletions of?PMP22gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR. Results (Thirty-six) of 113 CMT cases had the?PMP22 duplication, 4 HNPP cases had the? PMP22 deletion. No duplication or deletion was found in 50 normal controls. Conclusion The?PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113).?PMP22 deletion is the common cause of HNPP. |
| Keywords: | real-time quantitative PCR Charcot-Marie-Tooth disease hereditary neuropathy with liability to pressure palsies peripheral myelin protein 22 gene gene diagnosis |
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