Miedzybrodzka Z H, Yin Z, Kelly K F, Haites N E
University of Aberdeen Department of Obstetrics and Gynaecology, UK.
J Med Genet. 1994 Jul;31(7):545-50. doi: 10.1136/jmg.31.7.545.
We report a comparative evaluation of three different laboratory methods for screening large numbers of mouthwash DNA samples for common cystic fibrosis mutations. Sensitivity, specificity, and costs of ARMS (allele refractory mutation detection system), dot blotting, and a deletion/digest/PAGE method (multiplex PCR of exons 10 and 11, digest with HincII followed by polyacrylamide gel electrophoresis (PAGE)) were assessed. ARMS was the most reliable and sensitive method and so was considered more suitable than the cheaper deletion/digest/PAGE. As well as being less reliable than ARMS, the dot blotting method assessed was considerably more costly. ARMS was the best laboratory method for CF screening tested.
我们报告了三种不同实验室方法对大量漱口水DNA样本进行常见囊性纤维化突变筛查的比较评估。评估了ARMS（等位基因特异性突变检测系统）、斑点印迹法和一种缺失/消化/聚丙烯酰胺凝胶电泳法（外显子10和11的多重PCR，用HincII消化，随后进行聚丙烯酰胺凝胶电泳（PAGE））的敏感性、特异性和成本。ARMS是最可靠、最灵敏的方法，因此被认为比成本较低的缺失/消化/PAGE法更合适。所评估的斑点印迹法不仅比ARMS可靠性低，而且成本高得多。ARMS是所测试的用于囊性纤维化筛查的最佳实验室方法。
