在散发型腓骨肌萎缩症患者中未检测出LMNA基因突变(英文)  

No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients

作　　者：宋书娟[1] 章远志[1] 陈彪[2] 王曼捷[1] 王越英[1] 张远锦[3] 闫明[1] Nanbert ZHONG 

机构地区：[1]北京大学医学遗传中心 [2]首都医科大学宣武医院神经科 [3]北京大学第三医院神经科

出　　处：《北京大学学报（医学版）》2006年第1期78-79,共2页Journal of Peking University:Health Sciences

基　　金：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;国家"211工程"学科建设项目~~

摘　　要：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.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 散发型腓骨肌萎缩症 

分 类 号：R746.4[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]