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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。
In order to analyze the mutations of LITAF, RAB7, LMNA and MTMR2 in Chinese Charcot-Marie-Tooth disease (CMT), we used PCR combined with DNA sequence analysis and PCR-single strand conformation polymorphism PCR-SSCP and DNA sequence analysis were used to analyze the mutations of LITAF and RAB7 in 6 autosomal dominant hereditary families and 27 sporadic cases. The genetic polymorphisms of LITAF and RAB7 were analyzed by PCR-SSCP and DNA sequence analysis CMT family probands and 27 sporadic patients for LMNA and MTMR2 gene mutation analysis. The results showed that the sequence variations of c.269G → A and c.274A → G of LITAF gene and the c.1243G → A and c.1910C → T sequences of LMNA were not found. No sequence variation of RAB7 and MTMR2 was found. Among them, c.269G → A of LITAF gene, c.1243G → A and c.1910C → T of LMNA gene were newly discovered single nucleotide polymorphisms, and c.274A → G of LITAF gene was a known polymorphism. This suggests that mutations of LITAF, RAB7, LMNA and MTMR2 are rare in Chinese CMT patients.