Cuppens H, Cassiman J J
Center for Human Genetics, University of Leuven, Belgium.
Eur J Hum Genet. 1995;3(4):235-45. doi: 10.1159/000472304.
A quality control study was performed to determine the accuracy of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) mutation screening in 40 different genetic screening laboratories throughout Europe. A total of 9 different samples were investigated blindly by the participating laboratories. Only 25/40 laboratories, i.e. 62.5%, were able to type all samples correctly for the mutations for which they routinely screened. Only 2 of the 9 samples were correctly typed in all 40 laboratories. The lowest accuracy rate was 80% for 1 sample. 12.5% of the participating laboratories interpreted the F508C polymorphism as a true CF disease mutation and 23.5% interpreted the delta I507 mutation as a delta F508 mutation. For the delta F508 mutation, a false-negative result of 3.75% was obtained. It is clear that the accuracy of CFTR typing should be improved.
一项质量控制研究旨在确定欧洲40个不同基因筛查实验室中囊性纤维化（CF）跨膜传导调节因子（CFTR）突变筛查的准确性。参与研究的实验室对9个不同样本进行了盲测。只有25/40（即62.5%）的实验室能够正确检测出所有样本中它们常规筛查的突变。9个样本中只有2个在所有40个实验室中都被正确分型。有1个样本的最低准确率为80%。12.5%的参与实验室将F508C多态性解释为真正的CF疾病突变，23.5%的实验室将ΔI507突变解释为ΔF508突变。对于ΔF508突变，获得了3.75%的假阴性结果。显然，CFTR分型的准确性需要提高。
