4例假肥大型肌营养不良患儿的基因检测及临床分析  

Gene detection of duchenne's muscular dystrophy for four patients and clinical analysis

作　　者：涂泽蓉[1] 史常旭[1] 梁志清[1] 姚宏[1] 常青[1] 

机构地区：[1]第三军医大学西南医院妇产科,重庆400038

出　　处：《重庆医学》2008年第6期632-634,共3页Chongqing medicine

摘　　要：目的假肥大型肌营养不良(DMD)基因缺失的检测,为进一步产前基因诊断提供可靠的方法。方法采用18对引物的多重链式聚合酶反应(mPCR)检测4例DMD患儿的基因突变类型。结果4例患儿中2例检测出基因缺失,其中1例患儿为50、51外显子缺失,另1例患儿为43外显子缺失。结论mPCR在DMD基因缺失诊断中具有快速、准确、经济、简便的特点,便于临床推广。Objective To detection the gene deletions of Duchenne＇s muscular dystrophy（DMD） and to provide the eliable method for the antepartum gene diagnosis. Methods Detection of D-MD gene deletions in18 pairs of primers was applied for four DMD ＇s Patients. Results Two patients＇ gene was deleted among the four patients. One patients＇gene had deletons of 50 and 51 exton,the other patients＇ gene had deletons of the 43 exton. Conclusion mPCR of 18 pairs of primers is a quick,accurate, economic and practical method in detection of DMD gene deletions and easy to clinical generalization.

关 键 词：肌营养不良 基因检测 mPCR 

分 类 号：R746[医药卫生—神经病学与精神病学]