中国人腓骨肌萎缩症小热休克蛋白27基因突变分析

Mutation analysis of small heat-shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease

目的探讨中国人腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)小热休克蛋白27基因(small heat-shock protein27,HSP27)的突变特点。方法应用聚合酶链反应结合DNA序列分析方法,对114个CMT家系的先证者进行HSP27基因突变研究,并进一步对基因突变家系进行单体型分析。结果在4个常染色体显性遗传CMT2家系中发现一个HSP27基因错义突变C379T,单体型分析提示这4个家系很可能具有共同祖先。结论中国人CMT患者存在HSP27基因突变,但突变率较低(0.90%)。HSP27基因C397T突变除引起远端型遗传性运动神经病外尚可导致CMT2,进一步证实同一CMT疾病基因的同一突变可引起不同的表现型。

Objective To investigate the features of small heat-shock protein 27 （HSP27） gene mutation in Chinesepafients with Chareot-Marie-Tooth disease （CMT）. Methods 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. Results One missense mutation C379T was detected in 4 autosoreal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor. Conelution 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 phenotyes.