DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION
DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION
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DOI：
10.1093/nar/16.23.11141
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发表时间：
1988-12-09
影响因子：
14.9
通讯作者：
CASKEY, CT
中科院分区：
文献类型：
--
作者：
CHAMBERLAIN, JS;GIBBS, RA;CASKEY, CT
重组DNA技术在许多遗传性X连锁疾病产前诊断中的应用因高频率的异源性新突变而变得复杂（1）。部分基因缺失占杜氏肌营养不良症（DMD）病变的50%以上，约三分之一的病例是由新的突变引起的（2-5）。我们报道了人DMD基因几个易缺失外显子的分离和DNA序列测定。我们还描述了一种能够检测DMD基因中大部分缺失的快速方法。该程序利用多个广泛分离的序列的同时基因组DNA扩增，并应允许在任何半合子基因座的缺失扫描。我们证明了应用这种多重反应的产前和产后诊断DMD。
The application of recombinant DNA technology to prenatal diagnosis of many recessively inherited X-linked diseases is complicated by a high frequency of heterogenous, new mutations (1). Partial gene deletions account for more than 50% of Duchenne muscular dystrophy (DMD) lesions, and approximately one-third of all cases result from a new mutation (2-5). We report the isolation and DNA sequence of several deletion prone exons from the human DMD gene. We also describe a rapid method capable of detecting the majority of deletions in the DMD gene. This procedure utilizes simultaneous genomic DNA amplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus. We demonstrate the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.