Nollau P, Wagener C
Department of Clinical Chemistry, University Hospital Eppendorf, Hamburg, Germany.
Clin Chem. 1997 Jul;43(7):1114-28.
We give an overview of current methods for the detection of point mutations as well as small insertions and deletions in clinical diagnostics. For each method, the following characteristics are specified: (a) principle, (b) major modifications, (c) maximum fragment size that can be analyzed, (d) ratio and type of mutations that can be detected, (e) minimum ratio of mutant to wild-type alleles at which mutations can be detected, and (f) detection methods. Special attention is paid to the possibilities of quality assessment and the potential for standardization and automation.
我们概述了临床诊断中检测点突变以及小插入和缺失的当前方法。对于每种方法，规定了以下特征：(a) 原理，(b) 主要改进，(c) 可分析的最大片段大小，(d) 可检测的突变比例和类型，(e) 可检测突变的突变型与野生型等位基因的最小比例，以及 (f) 检测方法。特别关注质量评估的可能性以及标准化和自动化的潜力。
