LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症患者的突变分析

doi:10.3724/SP.J.1005.2010.00817

遗传 ›› 2010, Vol. 32 ›› Issue (8): 817-823.doi: 10.3724/SP.J.1005.2010.00817

LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症患者的突变分析

张如旭¹,郭鹏²,任志军²,赵国华²,刘三妹¹,刘婷¹,资晓宏¹,胡正茂³,夏昆³,唐北沙²

1. 中南大学湘雅三医院神经内科, 长沙 410013; 2. 中南大学湘雅医院神经内科, 长沙 410008; 3. 中南大学医学遗传学国家重点实验室, 长沙 410078

收稿日期:2009-10-30 修回日期:2010-03-24 出版日期:2010-08-20 发布日期:2010-08-23
通讯作者: 张如旭 E-mail:ruxu.zhang@yahoo.com.cn
基金资助:
国家自然科学基金项目(编号：30600200)和湖南省自然科学基金项目(编号：2006JJ30009)资助

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

ZHANG Ru-Xu¹, GUO Peng², REN Zhi-Jun², ZHAO Guo-Hua², LIU San-Mei¹,LIU Ting¹, ZI Xiao-Hong¹, HU Zheng-Mao³, XIA Kun³, TANG Bei-Sha²

1. Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, China; 2. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; 3. National Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China

Received:2009-10-30 Revised:2010-03-24 Online:2010-08-20 Published:2010-08-23
Contact: ZHANG Ru-Xu E-mail:ruxu.zhang@yahoo.com.cn

摘要/Abstract

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。

关键词: 脂多糖诱导肿瘤坏死因子а(LITAF), Ras相关GTP结合蛋白7(RAB7), 核纤层蛋白A/C(LMNA), 肌管蛋白相关蛋白2(MTMR2), 基因突变, 腓骨肌萎缩症

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.

Key words: Charcot-Marie-Tooth disease, lipopolysaccharide-induced tumor necrosis factor-alpha factor, lamin a/c, myotubularin-related protein 2, gene mutation, ras-associated protein rab7

张如旭，郭鹏，任志军，赵国华，刘三妹，刘婷，资晓宏，胡正茂，夏昆，唐北沙. LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症患者的突变分析[J]. 遗传, 2010, 32(8): 817-823.

ZHANG Ru-Xu, GUO Feng, LIN Zhi-Jun, DIAO Guo-Hua, LIU San-Mei, LIU Ting, ZI Xiao-Hong, HU Zheng-Mao, JIA Hun, TANG Bei-Sha. Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease[J]. HEREDITAS, 2010, 32(8): 817-823.

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LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症患者的突变分析

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

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