北京大学学报（医学版）2006，Vol.38Issue(1)：78-79,2.
在散发型腓骨肌萎缩症患者中未检测出LMNA基因突变
No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients
摘要
Abstract
Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare.关键词
夏科-马里-图斯病/基因,LMNA/突变Key words
Charcot-Marie-Tooth disease/Genes, LMNA/Mutation分类
医药卫生引用本文复制引用
宋书娟,章远志,陈彪,王曼捷,王越英,张远锦,闫明,Nanbert ZHONG..在散发型腓骨肌萎缩症患者中未检测出LMNA基因突变[J].北京大学学报（医学版）,2006,38(1):78-79,2.基金项目
Supported by the National Natural Sciences Foundation of China (30228019) （30228019）
Special Fund for Promotion of Education,Ministry of Education P.R.C （）
the Tenth "Five-year" Plan (2004BA720A03) and 211 Project 国家自然科学基金,教育部教育振兴行动计划特殊专项("九八五"工程),"十五"国家科技攻关及国家"211工程"学科建设项目 （2004BA720A03）
