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目的对Duchenne肌营养不良(DMD)先证者进行基因诊断,胎儿进行产前诊断。方法分别使用多重连接探针依赖扩增(MLPA)方法及多重聚合酶链式反应(PCR)法,对Dystropin基因外显子52缺失导致的DMD患者进行基因诊断,同时用相同方法对患儿母亲及对羊水细胞进行产前诊断。结果 MLPA方法显示,先证者Dystropin基因外显子52缺失,其母亲不携带有缺失突变;羊水检测显示为男性胎儿,与先证者具有相同的X-STR单倍型,但不携带DMD缺陷基因。结论 MLPA方法可以有效检测基因缺失或重复导致的DMD患者,对单个Dystropin基因外显子缺失导致的患者,需要应用PCR方法或基因测序方法进行验证。
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基本信息:
中图分类号:R714.5
引用信息:
[1]郑雷,郝胜菊,张钏,等.Duchenne肌营养不良一家系基因诊断与产前诊断[J].生殖医学杂志,2014,23(10):843-847.
2014-10-15
2014-10-15