Simultaneous determination of methylenetetrahydrofolate reductase C677T and factor V G1691A genotypes by mutagenically separated PCR and multiple-injection capillary electrophoresis.
Simultaneous determination of methylenetetrahydrofolate reductase C677T and factor V G1691A genotypes by mutagenically separated PCR and multiple-injection capillary electrophoresis.
复制标题
通过诱变分离PCR和多次注射毛细管电泳同时测定亚甲基四氢叶酸还原酶C677T和因子V G1691A基因型。
DOI：
10.1093/clinchem/44.2.264
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发表时间：
1998
影响因子：
9.3
通讯作者：
P. Ueland
中科院分区：
文献类型：
--
作者：
A. Ulvik;Jicun Ren;H. Refsum;P. Ueland
亚甲基四氢叶酸还原酶基因的C677T突变和因子V基因的G1691A(Leiden)突变是血栓栓塞性疾病的既定危险因素。我们在这里提出了一种同时对这些常见的遗传变异进行基因分型的方法。该检测涉及一种基于多重突变分离的聚合酶链式反应的策略，该聚合酶链式反应在包含六个引物的单个试管中进行。用毛细管电泳联用激光诱导荧光检测法对4种扩增产物(197、207、233和246bp)进行分离。通过多次进样模式进行毛细管电泳法分析，自动化电泳法的时间减少到每个样品2.5分钟。
The C677T mutation of the methylenetetrahydrofolate reductase gene and the G1691A (Leiden) mutation of the factor V gene are established risk factors for thromboembolic disease. We here present an assay for the simultaneous genotyping of these common genetic variants. The assay involves a strategy based on multiplex mutagenically separated PCR performed in a single tube containing six primers. Separation of the resulting four PCR products (197, 207, 233, and 246 bp) was performed by capillary electrophoresis coupled with laser-induced fluorescence detection. The time for the automated electrophoresis was reduced to 2.5 min per sample by performing the capillary electrophoresis analysis in a multiple-injection mode.
用于诊断导致活化蛋白 C 抗性 Gln506 因子 V 突变的替代 PCR 方法。
影响因子：
7.5
作者：
Greengard,JS;Xu,X;Gandrille,S;Griffin,JH
通讯作者：
Griffin,JH