中文摘要：

目的对65个腓骨肌萎缩症家系先证者进行基因突变检测,并进行临床电生理特点总结。方法应用实时荧光定量PCR、多聚酶链反应-单链构象多态性分析、DNA测序等方法 ,对65个腓骨肌萎缩症家系进行基因突变分析,对明确基因诊断的家系患者进行周围神经电生理特点分析。结果发现18个CMT1A家系,神经传导速度均明显减低（〈38m/s）;7个CMTX家系,神经传导速度改变不一,可正常或显著减慢,男性患者的神经传导速度下降通常较女性患者为显著;1个CMT4A家系神经传导速度重度减慢;CMT2L家系、CMT2F家系各1个,正中神经运动传导速度减低不明显（〉38m/s）,复合肌肉动作电位波幅明显降低;CMT1B家系1个,未行周围神经电生理检查。结论在65个临床诊断CMT家系中共确定了6种基因型共29个CMT家系的基因诊断,对CMT先证者及家系内患者的周围神经电生理改变特点的分析可为基因诊断提供指导性信息和发现亚临床症状的患者。

英文摘要：

Objective To analyze the gene mutation of Chinese Charcot-Marie-Tooth disease（CMT）pedigrees,and to summarize its electrophysiological characteristics.Methods Sixty-five CMT pedigrees underwent mutation analysis of PMP22,MPZ,CX32,NEFL,HSPB1,HSPB8 and GDAP1 gene using real-time quantitative PCR,polymerase chain reaction-based single-strained conformational polymorphism（SSCP）and DNA sequencing,respectively.Peripheral nerve electrophysiological study was carried out and the characteristics were analyzed.Results We found 18 CMT1A pedigrees with uniformed nerve conduction velocity slowing（NCV〈38 m/s）,7 CMTX1 pedigrees with different NCV varied from marked slowing to normal range,1 CMT4A pedigree with severely NCV slowing,1 CMT2F and 1 CMT2L pedigree with normal ranged median nerve motor NCV and diminished compound muscle action potentials,and 1 CMT1B pedigree having no access of electrophysiological data.Conclusions We confirmed 6 CMT genotypes in 29 families out of 65 clinically diagnosed CMT pedigrees.Peripheral nerve electrophysiological study of CMT index and familial patients is important for orientating gene mutation analysis and finding sub-clinical patients.