TY -的T1增强杜氏营养不良的诊断检测的小突变JF -神经学乔-神经病学SP - 645 LP - 650 - 10.1212 / WNL.57.4.645六世- 57 - 4 AU 首页- j . r . Mendell说非盟- c·h·Buzin AU - j·冯盟- j .燕盟- c·塞拉诺AU - d s Sangani AU - c .墙非盟- t . w .前盟s s大梁Y1 - 2001/08/28 UR - //www.ez-admanager.com/content/57/4/645.abstract N2 -目的:确定检测的小肌营养不良蛋白基因的突变可以增加使用一个增强的方法以单链构象多态性分析。背景:杜氏营养不良的DNA分析方法通常不能识别突变病例的三分之一。肌肉活检,添加了其固有的风险和责任杜氏营养不良的患者,成为唯一的诊断方法。即使组织诊断肌营养不良蛋白缺乏,许多家庭被排除在载波检测和产前诊断。方法:从93年一群基因组DNA杜氏营养不良患者没有可识别的基因突变筛查突变。在每种情况下,22个碱基的基因组DNA进行扫描,包括所有79抗肌萎缩蛋白基因的外显子,相邻intronic地区,和六个替代外显子1。结果:六十八例(73%)有小的变异,包括34个无意义突变,27个微小缺失和插入和7剪切位点突变。没有发现错义突变。一个无义突变的外显子59中检测出四个病人。大多数突变是新的; 54 of 62 different small mutations have not been reported. Mutations were found throughout the gene: 24% in the first quartile, 31% in the second, 16% in the third, and 29% in the fourth. Conclusions: A highly sensitive single-strand conformation polymorphism method substantially increased detection of small dystrophin gene mutations and made it possible to diagnose approximately 90% of patients with Duchenne dystrophy by DNA analysis. These findings, combined with cost savings and safety issues, provide compelling reasons to consider DNA analysis as the initial diagnostic test for the suspected dystrophin-deficient patient. ER -