中文摘要：

为了分析LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症（Charcot-Marie-Tooth disease,CMT）的突变特点,文章分别应用PCR结合DNA序列分析方法和PCR-单链构象多态性（PCR-SSCP）结合DNA序列分析方法对6个常染色体显性遗传家系先证者和27个散发病例进行LITAF和RAB7基因突变分析;应用PCR-SSCP结合DNA序列分析方法对14个常染色体遗传的CMT家系先证者和27个散发患者进行LMNA和MTMR2基因突变分析。结果发现：LITAF基因c.269G→A、c.274A→G序列变异和LMNA基因c.1243G→A、c.1910C→T序列变异,未发现RAB7和MTMR2基因的序列变异。其中LITAF基因c.269G→A、LMNA基因c.1243G→A和c.1910C→T为新发现的单核苷酸多态;LITAF基因c.274A→G为已知多态。说明LITAF、RAB7、LMNA和MTMR2基因突变在中国人CMT患者中罕见。

英文摘要：

The purpose of this study was to understand the mutation features of lipopolysaccharide-induced tumor necro-sis factor-alpha factor（LITAF）,ras-associated protein RAB7（RAB7）,lamin A/C（LMNA） and myotubularin-related protein 2（MTMR2） genes in Chinese Charcot-Marie-Tooth disease（CMT） patients.Mutation analysis of LITAF gene was carried out using PCR combined with DNA sequencing,and mutation analysis of RAB7 gene by PCR-single strand conformation polymorphism（PCR-SSCP） combined with DNA sequencing in 33 CMT patients including 6 probands of autosomal domi-nated CMT families and 27 sporadic patients;mutation analysis of LMNA and MTMR2 genes was observed using PCR-SSCP combined with DNA sequencing in 41 CMT patients,including 14 probands of autosomal recessive CMT fami-lies and 27 sporadic patients.Two sequence variations c.269G→A and c.274A→G were detected in LITAF gene and two sequence variations c.1243G→A and c.1910C→T were detected in LMNA gene.No sequence variation was found in RAB7 and MTMR2 gene.Variations of c.269G→A in LITAF gene and c.1243G→A,c.1910C→T in LMNA gene are newly found SNPs in this study.Variation of c.274A→G in LITAF gene is known SNP reported in SNP database.Mutations in LITAF,RAB7,LMNA,and MTMR2 genes are rare in Chinese CMT patients.