通过多重DNA酶免疫测定法同时检测ΔF508、G542X、N1303K、G551D和1717-1G→A囊性纤维化等位基因。
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.
作者信息
Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B
机构信息
Department of Human Genetics, Tor Vergata University of Rome, Italy.
出版信息
Int J Clin Lab Res. 1995;25(3):142-5. doi: 10.1007/BF02592555.
PMID:8562976
Abstract
We describe the use of a polymerase chain reaction in conjunction with a DNA enzyme immunoassay for the simultaneous detection of five common cystic fibrosis mutations. The method is specific, sensitive, rapid, and proved effective in Guthrie card-based screening of cystic fibrosis mutations.
摘要
我们描述了一种将聚合酶链反应与DNA酶免疫测定相结合的方法，用于同时检测五种常见的囊性纤维化突变。该方法具有特异性、敏感性、快速性，并且在基于Guthrie卡片的囊性纤维化突变筛查中被证明是有效的。
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