腓骨肌萎缩症1A型基因诊断的特异性分析  

Specificity of gene diagnosis for Charcot-Marie-Tooth type 1A

作　　者：吴志国[1] 张进[1] 肖波[1] 肖剑锋[1] 李静[1] 

机构地区：[1]中南大学湘雅医院神经内科,湖南省长沙市410008

出　　处：《中国临床康复》2004年第13期2470-2471,共2页Chinese Journal of Clinical Rehabilitation

基　　金：教育部高校青年教师奖(教人司2001-182)

摘　　要：目的:从分子水平对23例腓骨肌萎缩症1型(Charcot-Marie-Tooth1A,CMT1)患者进行基因诊断。方法:应用聚合酶链反应(PCR)-双酶切法,对23例CMT1患者和30例正常人进行基因特异性连接片段的检测。结果:23例CMT1患者中仅有2例(9%)双酶切后发现有1760bp的特异性条带,可以诊断为CMT1A型患者,其余患者及30例正常成人均无此特异性条带。结论:由于PCR-双酶切方法快速、简单、易操作,且特异性好,可作为CMT1A基因诊断的一种初筛方法。AIM:To perform gene diagnosis in 23 patients with Charcot-Marie-Tooth type 1 (CMT1) on the basis of molecular level. METHODS:Polymerase chain reaction(PCR) combined with restriction enzyme digest ion were used to detect gene specific junction fragments of the 23 CMT1 patients and 30 normal controls. RESULTS:Only 9%(2/23) of CMT1 patients were identified to have the 1760bp spe cific junction fragments,and could be diagnosed as CMT1A.The remainder of CMT1 p atients and 30 controls had no specific junction fragments. CONCLUSION:Because of the speediness, simpleness and good specificity,the PCR combined with restriction enzyme digestion can be used as a primary screening in the gene diagnosis of CMT1A.

关 键 词：腓骨肌萎缩症 1A型基因 基因特异性 基因诊断 聚合酶链反应 

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]