【摘 要】
：
假性肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD),是抗肌萎缩蛋白基因(DMD基因)突变所致的常见致死性X-连锁隐性遗传性肌肉疾病.目的：针对2005.6-2015
【机 构】
：
中南大学生命科学学院(医学遗传学国家重点实验室) 410078
论文部分内容阅读
假性肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD),是抗肌萎缩蛋白基因(DMD基因)突变所致的常见致死性X-连锁隐性遗传性肌肉疾病.目的：针对2005.6-2015.5十年期间收集的730个DMD病人家系进行回顾性研究,分析中国人群DMD基因突变谱.方法：联合MLPA与Sanger测序技术对DMD基因79个外显子区域进行大片段缺失/重复突变与点突变检测,并为255例DMD基因致病突变明确的先证者家系中女性成员提供产前检测.结果：497例患者通过MLPA技术,成功检测到DMD基因单个或多个外显子大片段缺失/重复突变,155例MLPA检测阴性的患者通过Sanger测序技术成功检测到DMD基因致病点突变,新发现数据库未收录的DMD基因突变77个.255例DMD基因产前检测,92例阳性,1 63例阴性.结论：本研究为约90％的DMD患者提供了明确分子诊断,为患者家庭的再次生育提供了有效的遗传咨询或产前诊断,并发现多例相关数据库中未报道的DMD基因新发致病突变,丰富了DMD基因的突变谱,为研究DMD基因突变机制及探索DMD的治疗提供了一定的分子基础.
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