Richards R I, Friend K
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
J Med Genet. 1991 Dec;28(12):856-9. doi: 10.1136/jmg.28.12.856.
The molecular characterisation of the dystrophin gene, mutations in which are responsible for X linked Duchenne and Becker muscular dystrophies, has led to an array of strategies for the diagnosis of affected subjects and carriers. Initially these were based on blotting and hybridisation technologies but have recently been largely superseded by PCR based techniques which afford greater speed and sensitivity. We describe the use of single strand conformation polymorphism to detect heterozygosity in regions of the dystrophin locus which are deleted in affected males, to determine the carrier status of their female relatives.
肌营养不良蛋白基因的分子特征分析，该基因中的突变会导致X连锁杜兴氏和贝克氏肌营养不良症，这催生了一系列用于诊断患病个体和携带者的策略。最初这些策略基于印迹和杂交技术，但最近在很大程度上已被基于PCR的技术所取代，后者具有更高的速度和灵敏度。我们描述了使用单链构象多态性来检测肌营养不良蛋白基因座中在患病男性中缺失区域的杂合性，以确定其女性亲属的携带者状态。
