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实时 PCR 检测科威特阿拉伯人中的因子 V 莱顿突变:不同的阿拉伯人有不同的值。

Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs.

机构信息

Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences-Kuwait University, Sulaibekhat, Kuwait.

出版信息

J Hum Genet. 2010 Apr;55(4):232-5. doi: 10.1038/jhg.2010.11. Epub 2010 Mar 12.

DOI:10.1038/jhg.2010.11
PMID:20224595
Abstract

Factor V Leiden (FVL) mutation (G1691A) is a risk factor for development of venous thromboembolic disorders. FVL was found mostly in Caucasians (1-15%) but was almost absent in non-Caucasians. Studies on Arab patients and populations revealed very inconsistent results. This study reports FVL in Arabs living in Kuwait with a focus on the nationality of the Arab subjects studied. Whole-blood samples were collected from 400 healthy Arabs who were 268 Kuwaitis (67%), 50 Syrians (12.5%), 34 Jordanians (8.5%), 8 Palestinians (2%) and 40 Egyptians (10%). DNA extraction was carried out for these blood samples and real-time PCR was performed to detect the presence of FVL. Generally, 36 cases (9%) had the mutation (33 were heterozygous and 3 were homozygous), with an allelic frequency of 0.049. The prevalence of FVL differed in different Arabic cases: Kuwaitis 4.5%, Egyptians 15%, Syrians 16%, Jordanians 23.5% and Palestinians 25%. The allelic frequency was 0.022 in the Kuwaitis and 0.088-0.132 in non-Kuwaitis. The three homozygous cases were from Syria, Jordan and Egypt. In conclusion, the prevalence of FVL in Arabs living in Kuwait is as high as in Caucasians. There is a difference in prevalence among Arabs themselves, being relatively lower in Kuwaitis than in non-Kuwaitis.

摘要

凝血因子 V 莱顿(FVL)突变(G1691A)是静脉血栓栓塞性疾病发展的一个风险因素。FVL 主要见于白种人(1-15%),但在非白种人中几乎不存在。针对阿拉伯患者和人群的研究结果差异很大。本研究报告了居住在科威特的阿拉伯人的 FVL 情况,重点关注所研究的阿拉伯受试者的国籍。从 400 名健康的阿拉伯人采集全血样本,其中 268 名为科威特人(67%),50 名为叙利亚人(12.5%),34 名为约旦人(8.5%),8 名为巴勒斯坦人(2%),40 名为埃及人(10%)。对这些血液样本进行 DNA 提取,并进行实时 PCR 检测以检测 FVL 的存在。总体而言,有 36 例(9%)存在突变(33 例为杂合子,3 例为纯合子),等位基因频率为 0.049。不同阿拉伯病例的 FVL 患病率不同:科威特人为 4.5%,埃及人为 15%,叙利亚人为 16%,约旦人为 23.5%,巴勒斯坦人为 25%。科威特人的等位基因频率为 0.022,非科威特人的等位基因频率为 0.088-0.132。3 例纯合子病例来自叙利亚、约旦和埃及。总之,居住在科威特的阿拉伯人中 FVL 的患病率与白种人相当。阿拉伯人之间存在差异,科威特人的患病率相对低于非科威特人。

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Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.凝血因子V莱顿突变(Arg506Gln)是一种混杂的遗传风险因素,但对于同型合子和胱硫醚β-合酶缺乏症的 obligate 杂合子发生静脉血栓栓塞而言并非必需因素。 (注:“obligate heterozygotes”直译为“必需杂合子”,这里结合医学语境意译为“特定杂合子”或“必然杂合子”可能更合适,具体需根据专业背景进一步确定,这里先按字面翻译)
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