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.
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Authors | Ru-Xu Zhang, Peng Guo, Zhi-Jun Ren, Guo-Hua Zhao, San-Mei Liu, Ting Liu, Xiao-Hong Zi, Zheng-Mao Hu, Kun Xia, Bei-Sha Tang |
Journal | Yi chuan = Hereditas
(Yi Chuan)
Vol. 32
Issue 8
Pg. 817-23
(Aug 2010)
ISSN: 0253-9772 [Print] China |
PMID | 20709679
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- LITAF protein, human
- LMNA protein, human
- Lamin Type A
- Nuclear Proteins
- Transcription Factors
- rab7 GTP-Binding Proteins
- rab7 GTP-binding proteins, human
- MTMR2 protein, human
- Protein Tyrosine Phosphatases, Non-Receptor
- rab GTP-Binding Proteins
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Topics |
- Adolescent
- Adult
- Charcot-Marie-Tooth Disease
(genetics)
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Lamin Type A
(genetics)
- Male
- Middle Aged
- Mutation
- Nuclear Proteins
(genetics)
- Polymorphism, Single Nucleotide
- Protein Tyrosine Phosphatases, Non-Receptor
(genetics)
- Transcription Factors
(genetics)
- rab GTP-Binding Proteins
(genetics)
- rab7 GTP-Binding Proteins
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