Tjärnlund Anna, Andersson Maria, Jood Katarina, Ladenvall Per, Jern Christina
Department of Clinical Genetics, Sahlgrenska University Hospital, Sweden.
Thromb Haemost. 2003 May;89(5):936-42.
Hemostatic gene polymorphisms have been shown to be associated with arterial and venous thrombotic disease. To date these polymorphisms have mainly been detected by labor-intensive conventional gel based methods. Aim of the present study was to design and optimize high throughput 5' nuclease assays for the detection of a set of 10 single-nucleotide polymorphisms (SNP) in genes of importance for hemostasis: plasminogen activator inhibitor type 1 -675 4G>5G, thrombin activatable fibrinolysis inhibitor Ala147Thr and 1,542C>G, beta-fibrinogen -455G>A, von Willebrand factor -1,051A>G, factor VII Arg353Gln, factor XIII Val34Leu, prothrombin 20,210G>A, tissue factor pathway inhibitor -287T>C, and methylenetetrahydrofolate reductase 1,298A>C. Specificity of each genotyping assay was confirmed by sequence-based typing and reproducibility was evaluated by repeated genotyping. The genotyping protocols presented here may serve as a valuable tool for clinical researchers interested in exploring associations between these SNPs and thrombotic disease.
止血基因多态性已被证明与动脉和静脉血栓性疾病相关。迄今为止，这些多态性主要通过基于传统凝胶的劳动密集型方法检测。本研究的目的是设计并优化高通量5'核酸酶检测方法，用于检测一组对止血具有重要意义的基因中的10个单核苷酸多态性（SNP）：纤溶酶原激活物抑制剂1型-675 4G>5G、凝血酶激活的纤溶抑制物Ala147Thr和1542C>G、β-纤维蛋白原-455G>A、血管性血友病因子-1051A>G、因子VII Arg353Gln、因子XIII Val34Leu、凝血酶原20210G>A、组织因子途径抑制剂-287T>C以及亚甲基四氢叶酸还原酶1298A>C。通过基于序列的分型确认了每种基因分型检测的特异性，并通过重复基因分型评估了可重复性。本文介绍的基因分型方案可能为有兴趣探索这些SNP与血栓性疾病之间关联的临床研究人员提供有价值的工具。
