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摩洛哥健康人群中 C2491t 无义突变频率的首次研究。

First study of the C2491t nonsense mutation frequency in moroccan healthy population.

机构信息

Laboratory of Human Genetics and Molecular Pathology, Medical School, University Hassan II Casablanca, Casablanca, Morocco,

出版信息

J Mol Neurosci. 2013 Oct;51(2):425-7. doi: 10.1007/s12031-013-0045-1. Epub 2013 Jun 15.

DOI:10.1007/s12031-013-0045-1
PMID:23765175
Abstract

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.

摘要

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。

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引用本文的文献

1
G2691A and C2491T mutations of factor V gene and pre-disposition to myocardial infarction in Morocco.摩洛哥人群中凝血因子V基因的G2691A和C2491T突变与心肌梗死易感性
Biomed Rep. 2016 Nov;5(5):618-622. doi: 10.3892/br.2016.768. Epub 2016 Sep 30.
2
First study of C2491T FV mutation with ischaemic stroke risk in Morocco.在摩洛哥进行的关于C2491T凝血因子V突变与缺血性中风风险的首次研究。
J Genet. 2015 Jun;94(2):313-5. doi: 10.1007/s12041-015-0525-x.

本文引用的文献

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Prevalence of angiotensin-converting enzyme, methylenetetrahydrofolate reductase, Factor V Leiden, prothrombin and apolipoprotein E gene polymorphisms in Morocco.摩洛哥血管紧张素转换酶、亚甲基四氢叶酸还原酶、凝血因子V莱顿、凝血酶原及载脂蛋白E基因多态性的患病率
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