Mutation analysis of LITAF,RAB7,LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease

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.