中文摘要：

目的分析线粒体融合蛋白2（MFN2）基因在中国人腓骨肌萎缩症的突变情况，建立快速、有效和经济的基因诊断方法。方法应用变性高效液相色谱（DHPLC）结合DNA直接测序的方法，对9个常染色体显性遗传的CMT2先证者和26个散发CMT2病例共35例患者进行MFN2皋因编码区17个外显子及其侧翼区的突变检测。结果在35例腓骨肌萎缩症患者中共检测到3种MFN2基因序列变异：c．281G→A，c．395G→A和c．408A→T，其中c．395G→A（C132T）为首次报道的致病突变，c．281G→A（R94Q）为已知致病热点突变，c．408A→T（V136V）为单核苷酸多态。DHPLC突变检测的敏感性和特异性为100％。结论首次在国内应用DHPLC结合DNA白直接测序埘MFN2基因进行突变检测，发现2个致病突变和1个单核苷酸多态。DHPLC结合DNA直接测序法可准确有效地用于大规模MFN2基冈突变筛查。

英文摘要：

Objective To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease （CMT） and to establish a quick and effective diagnostic method. Methods Through denaturing high-performance liquid chromatography （DHPLC） combined with DNA sequencing, MFN2 gene mutation analysis was carried out in 35 Chinese CMT2 patients including 9 probands of CMT2 pedigree and 26 sporadic CMT2 patients. Results The investigators found three abnormal sequence variations in MFN2 gene：c. 281G→A, c. 395G→A and c. 408A→T. c. 395G→A （C132T） was a novel causative missense mutation firstly reported while c. 281G→A （R94Q） a hotspot mutation and c. 408A→T（V136V） a single nucleotide polymorphism （SNP）. The accuracy and specificity of DHPLC detection reached up to 100%. Conclusion Through DHPLC combined with DNA sequencing, MFN2 mutations are detected in Chinese CMT2 patients. There are two causative missense mutations： c. 395G→A （C132T） and c. 281G→A （R94Q） and one SNP c. 408A→T （V136V）. Such a method is an effective and economic diagnostic screening tool of MFN2 gene in CMT patients on a large scale.