通过多重聚合酶链反应对日本杜兴氏/贝克氏肌肉营养不良症患者进行肌营养不良蛋白基因缺失筛查。
A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
作者信息
Sakuraba H, Ishii K, Shimmoto M, Yamada H, Suzuki Y
机构信息
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
出版信息
Brain Dev. 1991 Sep;13(5):339-42. doi: 10.1016/s0387-7604(12)80129-x.
A new screening method involving the multiplex polymerase chain reaction was developed to detect dystrophin gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Eleven exonic regions including deletion "hot spots" were analyzed. Gene deletions were found in 33% of 92 unrelated Japanese patients, mainly in the central portion (exons 43-52) and at the 5' end (exons 1-17). This is a useful laboratory test for the rapid genetic diagnosis of DMD/BMD.
一种涉及多重聚合酶链反应的新型筛查方法被开发出来，用于检测日本杜氏和贝克型肌营养不良症（DMD/BMD）患者的抗肌萎缩蛋白基因缺失。分析了包括缺失“热点”在内的11个外显子区域。在92名无亲缘关系的日本患者中，33%发现了基因缺失，主要位于中央部分（外显子43 - 52）和5'端（外显子1 - 17）。这是一种用于DMD/BMD快速基因诊断的有用实验室检测方法。
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