Multiplex PCR for Identifying Dystrophin Gene Deletions
Multiplex PCR for Identifying Dystrophin Gene Deletions
复制标题
用于识别肌营养不良蛋白基因缺失的多重 PCR
DOI：
10.1002/0471142905.hg0903s10
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发表时间：
1996
影响因子：
--
通讯作者：
A. Beggs
中科院分区：
文献类型：
--
作者：
A. Beggs
在Duchenne和Becker肌营养不良症(DMD和BMD)患者中，dystrophin被确定为缺陷蛋白，这使得敏感和特异的测试得以发展，以建立诊断并帮助遗传咨询和产前诊断。本文描述了三种互补的多重聚合酶链式反应方法，检测了26个Dystrophin基因外显子。描述了用于三种诊断分析中的每一种的原装聚合酶链式反应反应混合物的制备和保存。这是对男性重复和携带者女性缺失的放射检测方法的改进。Duchenne和Becker肌营养不良患者中肌营养不良蛋白的鉴定
The identification of dystrophin as the defective protein in patients with Duchenne and Becker muscular dystrophies (DMD and BMD) has allowed the development of sensitive and specific tests to establish a diagnosis and to aid in genetic counseling and prenatal diagnosis. The describes three complementary multiplex PCR assays that detect 26 dystrophin gene exons. The describes preparation and storage of stock PCR reaction mixes with primers for each of the three diagnostic assays. The is a modification of the for radioactive detection of duplications in males and deletions in carrier females.The identification of dystrophin as the defective protein in patients with Duchenne and Becker muscular dystrophies
影响因子：
4.4
作者：
Monaco, Anthony P.;Bertelson, Corlee J.;Kunkel, Louis M.
通讯作者：
Kunkel, Louis M.