Liu Xiao-min, Tang Bei-sha, Zhao Guo-hua, Xia Kun, Zhang Fu-feng, Pan Qian, Cai Fang, Hu Zheng-mao, Zhang Cheng, Chen Biao, Shen Lu, Zhang Ru-xu, Jiang Hong
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):510-3.
To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).
DNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.
One missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor.
To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.
研究中国夏科-马里-图斯病（CMT）患者中小热休克蛋白27（HSP27）基因突变的特征。
采用聚合酶链反应和直接测序法对114例CMT先证者的DNA样本进行HSP27基因突变筛查，并对检测到突变的家系进行单倍型分析。
在4个常染色体显性CMT2家系中检测到1个错义突变C379T。单倍型分析表明这4个家系可能有共同的祖先。
据作者所知，这是中国CMT患者中HSP27基因突变的首次报道，但可能并不常见（0.90%）。HSP27基因中的C379T突变除导致远端遗传性运动神经病外还可引起CMT2，从而进一步证明同一基因中的相同突变可能导致不同的表型。
