Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Clin Chem Lab Med. 2010 Dec;48 Suppl 1:S79-87. doi: 10.1515/CCLM.2010.372. Epub 2010 Nov 22.
Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection are very important in order to define the increased relative risk for venous thromboembolism in selected patients. Use of DNA-based methods to detect both mutations has become widely available in clinical diagnostic laboratories, including fluorescence-based quantitative real-time PCR (qPCR). The latter is a rapid, simple, robust and reliable method to identify genotypes of interest. There are several chemistries used for qPCR; this article describes their principles and applicability for Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection.
检测凝血因子 V 莱顿（Factor V Leiden）和凝血酶原（F2）c.20210G>A 突变非常重要，有助于明确某些患者静脉血栓栓塞症的相对风险增加。基于 DNA 的方法检测这两种突变已在临床诊断实验室中广泛应用，包括荧光定量实时 PCR（qPCR）。后者是一种快速、简单、稳健和可靠的方法，可用于鉴定感兴趣的基因型。qPCR 有多种化学方法，本文将介绍其原理及其在凝血因子 V 莱顿和凝血酶原（F2）c.20210G>A 突变检测中的适用性。
