Bathelier C, Champenois T, Lucotte G
LCL Laboratory, Paris, France.
Mol Cell Probes. 1998 Apr;12(2):121-3. doi: 10.1006/mcpr.1997.0152.
The authors have developed a simple and rapid amplification-refractory mutation system (ARMS) assay for the factor V Leiden mutation (MIM 227400.0001). Polymerase chain reaction (PCR) primers within exon 10 of the factor V gene were designed; one common upstream primer was paired with either a normal or a mutant-specific downstream primer. The assay was validated using factor V Leiden DNA samples of thrombophilic patients ascertained by the restriction enzyme cleavage method of reference. In the normal French population, allele frequencies of the factor V Leiden mutation are 2.6% for the Parisian region and 1.7% for the south of the country.
作者开发了一种简单快速的扩增不应性突变系统（ARMS）检测方法，用于检测凝血因子V莱顿突变（MIM 227400.0001）。设计了凝血因子V基因第10外显子内的聚合酶链反应（PCR）引物；一个通用的上游引物与一个正常或突变特异性下游引物配对。该检测方法使用通过参考限制酶切割法确定的血栓形成倾向患者的凝血因子V莱顿DNA样本进行了验证。在法国正常人群中，凝血因子V莱顿突变的等位基因频率在巴黎地区为2.6%，在该国南部为1.7%。
