Morral N, Estivill X
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalunya, Spain.
Genomics. 1992 Aug;13(4):1362-4. doi: 10.1016/0888-7543(92)90071-y.
Multiplex PCR amplification has been developed for three highly polymorphic microsatellites (IVS8CA, IVS17BTA, and IVS17BCA) located in intronic regions of the CFTR (cystic fibrosis (CF) transmembrane conductance regulator) gene. The triplex PCR reaction required different concentrations of each pair of primers and labeling of primers in the same reaction. Total informativity is obtained in 90.25% of couples requiring analysis of polymorphisms, and when triplex microsatellite analysis is combined with analysis for the six most common CF mutations in the Spanish population, informativity reaches more than 99%.
已针对位于囊性纤维化跨膜传导调节因子(CFTR)基因内含子区域的三个高度多态性微卫星(IVS8CA、IVS17BTA和IVS17BCA)开发了多重PCR扩增。三重PCR反应需要每对引物的不同浓度,并在同一反应中对引物进行标记。在需要分析多态性的夫妇中,90.25%可获得总信息度,当三重微卫星分析与西班牙人群中六个最常见的CF突变分析相结合时,信息度超过99%。