title: [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
abstract: The purpose of this study was to understand the mutation features of lipopolysaccharide-induced tumor necrosis 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.
authors: Department of Neurology, tCentral South University, Changsha, China. ruxu.zhang@yahoo.com.cn
authors: Ru-Xu
authors: RX
authors: Zhang
authors: Peng
authors: P
authors: Guo
authors: Zhi-Jun
authors: ZJ
authors: Ren
authors: Guo-Hua
authors: GH
authors: Zhao
authors: San-Mei
authors: SM
authors: Liu
authors: Ting
authors: T
authors: Liu
authors: Xiao-Hong
authors: XH
authors: Zi
authors: Zheng-Mao
authors: ZM
authors: Hu
authors: Kun
authors: K
authors: Xia
authors: Bei-Sha
authors: BS
authors: Tang
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000090802:rab7 GTP-Binding Proteins
chemical_list: C118738:LITAF protein, human; C494847:LMNA protein, human; D034904:Lamin Type A; D009687:Nuclear Proteins; D014157:Transcription Factors; D000090802:rab7 GTP-Binding Proteins; C000716463:rab7 GTP-binding proteins, human; C408986:MTMR2 protein, human; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D020691:rab GTP-Binding Proteins