Laboratory of Human Genetics and Molecular Pathology, Medical School, University Hassan II Casablanca, Casablanca, Morocco,
J Mol Neurosci. 2013 Oct;51(2):425-7. doi: 10.1007/s12031-013-0045-1. Epub 2013 Jun 15.
The mutation FV Leiden (G1691A) is the most common mutation worldwide with a variable allelic frequency between countries. More frequent in the European and Caucasian populations and rare or absent in African native population, the FVL was studied in the Moroccan population (They-They et al. Ann Hum Biol 37(6):767-777, 2010) and is totally absent as reported previously by (Mathonnet et al. Thromb Haemost 88(6):1073-1074, 2002). Here, another mutation in FV (Q773Term) was detected in a Moroccan patient, which took our interest for this study and establishes the first epidemiological database for future associated studies concerning neurovascular diseases.
FV Leiden 突变(G1691A)是世界上最常见的突变,其等位基因频率在不同国家之间存在差异。该突变在欧洲和高加索人群中更为常见,而在非洲本地人群中则很少见或不存在。摩洛哥人群中曾对 FVL 进行过研究(They-They 等人,Ann Hum Biol 37(6):767-777, 2010),此前曾有报道称(Mathonnet 等人,Thromb Haemost 88(6):1073-1074, 2002)该突变完全不存在。在此,我们在一名摩洛哥患者中检测到了 FV 中的另一个突变(Q773Term),这引起了我们对该研究的兴趣,并为未来与神经血管疾病相关的研究建立了首个流行病学数据库。