A CONVENIENT MULTIPLEX PCR SYSTEM FOR THE DETECTION OF DYSTROPHIN GENE DELETIONS - A COMPARATIVE-ANALYSIS WITH CDNA HYBRIDIZATION SHOWS MISTYPINGS BY BOTH METHODS
A CONVENIENT MULTIPLEX PCR SYSTEM FOR THE DETECTION OF DYSTROPHIN GENE DELETIONS - A COMPARATIVE-ANALYSIS WITH CDNA HYBRIDIZATION SHOWS MISTYPINGS BY BOTH METHODS
复制标题
DOI：
10.1136/jmg.28.5.304
复制
发表时间：
1991-05-01
影响因子：
4
通讯作者：
BOBROW, M
中科院分区：
文献类型：
--
作者：
ABBS, S;YAU, SC;BOBROW, M
现有的用于肌营养不良蛋白基因中外显子的多重PCR扩增的反应已被修改以产生两个多重反应，其分别覆盖基因中的5 ′和3 ′主要缺失“热点”，在148例患者的比较研究中，两种cDNA杂交数据均出现错误（4%），PCR分析阳性率为1.2%。 我们建议规避潜在的问题，以避免错误的类型和随后的误诊，并得出结论，与适当的预防措施，多重PCR扩增可以选择用于检测肌营养不良蛋白基因缺失的方法。
Existing reactions for the multiplex PCR amplification of exons in the dystrophin gene have been modified to produce two multiplex reactions which separately cover the 5' and 3' major deletion 'hotspots' in the gene, and together detect approximately 98% of all deletions detectable by Southern cDNA hybridisation.A comparative study of 148 patients showed mistypings in both the cDNA hybridisation data (4%) and the PCR analysis (1.2%). We suggest means of circumventing the underlying problems in order to avoid mistyping and subsequent misdiagnosis, and conclude that, with appropriate precautions, multiplex PCR amplification can be the method of choice for detecting deletions in the dystrophin gene.