一种用于检测肌营养不良蛋白基因缺失的便捷多重PCR系统：与cDNA杂交的比较分析显示两种方法均存在错分型。
A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.
作者信息
Abbs S, Yau S C, Clark S, Mathew C G, Bobrow M
机构信息
Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London.
出版信息
J Med Genet. 1991 May;28(5):304-11. doi: 10.1136/jmg.28.5.304.
Abstract
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.
摘要
用于肌营养不良蛋白基因外显子多重PCR扩增的现有反应已被修改，以产生两个多重反应，分别覆盖该基因5'和3'主要缺失“热点”，二者共同检测通过Southern cDNA杂交可检测到的所有缺失的约98%。对148例患者的比较研究表明，cDNA杂交数据（4%）和PCR分析（1.2%）中均存在错误分型。我们提出了规避潜在问题的方法，以避免错误分型和后续误诊，并得出结论，采取适当的预防措施后，多重PCR扩增可成为检测肌营养不良蛋白基因缺失的首选方法。
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