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
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):537-40.
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.
Duplications or deletions of PMP22 gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR.
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.
The PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of HNPP.
采用实时定量聚合酶链反应检测中国夏科-马里-图斯病（CMT）或遗传性压迫易感性神经病（HNPP）患者外周髓鞘蛋白22（PMP22）基因的重复或缺失。
运用实时定量PCR检测113例CMT患者、4例HNPP患者及50例正常对照者的PMP22基因重复或缺失情况。
113例CMT患者中有36例存在PMP22基因重复，4例HNPP患者存在PMP22基因缺失。50例正常对照者未发现重复或缺失。
中国CMT患者中PMP22基因重复率为31.9%（36/113）。PMP22基因缺失是HNPP的常见病因。
