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应用同位素掺入的多聚酶链式反应方法扩增Dystrophin基因内5′脑组织特异性启动子附近(5′CA)及3′非翻译区(3′CA)的两个CA重复序列。通过聚丙烯酰胺凝胶电泳及放射自显影的方法检测扩增产物。结果表明。这两个位点在中国人群中具有长度多态性:5′CA具有6种等位片段,频率为:0.033～0.267,PIC 0.750;3′CA具有两种等位片段,频率为0.75、0.25,PIC 0.375。应用这两个位点对两个非缺失型DMD家系进行了单体型连锁分析,结果表明这两个位点可以提供充足的信息,是较为方便有效的新位点。所建立的方法为非缺失型DMD/BMD家系的基因诊断提供了重要的新手段。
The two CA repeats of 5 ’CA and 3’ untranslated region (3’CA) in the Dystrophin gene were amplified by polymerase chain reaction using isotope incorporation. Amplification products were detected by polyacrylamide gel electrophoresis and autoradiography. The results show. These two loci have a length polymorphism in the Chinese population: 5’CA has six allelic fragments with frequencies of 0.033-0.267 and PIC 0.750; 3’CA has two allelic fragments with frequencies of 0.75, 0.25 , PIC 0.375. The haplotype linkage analysis of two non-deletion DMD pedigrees using these two loci showed that these two loci can provide sufficient information and are more convenient and effective new loci. The established method provides an important new method for genetic diagnosis of non-deletion DMD / BMD pedigrees.