Zhang Fu-feng, Tang Bei-sha, Zhao Guo-hua, Luo Wei, Xia Kun, Liu Xiao-min, Xiao Jian-feng, Zhang Ru-xu, Chen Biao, Hang Cheng, Pan Qian, Cai Fang, Guo Peng
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhonghua Yi Xue Za Zhi. 2005 Jul 13;85(26):1809-12.
To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT).
Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination.
Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes.
Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9% by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.
研究中国夏科-马里-图斯病（CMT）患者的基因突变特征。
采用实时定量聚合酶链反应（PCR）、PCR-单链构象多态性分析（SSCP）和/或直接测序法，对来自中国不同省份的113个CMT家系的先证者（其中45个有家族史）的致病基因PMP22、MPZ、CX32、EGR2、GDAP1、NEFL、HSP22和HSP27的突变情况进行分析。对电泳条带异常的受试者的所有家庭成员以及50名正常对照者进行相同检查。
在113例CMT先证者中，发现36例PMP22基因重复、7例CX32基因突变、1例HSP22基因突变、1例HSP27基因突变、1例MPZ基因突变和1例GDAP1基因突变。未发现PMP22、EGR2和NEFL基因的点突变。
在中国CMT患者中，31.9%由PMP22基因重复引起，6.2%由CX32基因突变引起，0.9%由HSP22、HSP27、MPZ和GDAP1基因突变引起。PMP22、EGR2和NEFL基因的点突变较为罕见。
