Laboratoire d'Hématologie et Banque du Sang, CHU Sahloul, Sousse, Tunisia.
J Clin Lab Anal. 2012 May;26(3):167-73. doi: 10.1002/jcla.21506.
Specific genetic conditions are known to be associated with high risk of venous thromboembolism. This genetic basis varies widely between ethnic groups. We investigated the distribution of four inherited polymorphisms in 113 unselected Tunisian blood donors by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The allele frequencies of Factor V Leiden (FVL), prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 677C>T, and MTHFR 1298A>C mutations were 3, 0.9, 30, and 31%, respectively. The MTHFR 677C>T polymorphism was influenced by age. Twenty-nine of the 113 blood donors demonstrated more than one genetic markers. Hyperhomocysteinemia was found in 12 subjects, and it was statistically associated to the MTHFR 677TT genotype. Principal component analysis allowed disclosing the resemblance between Mediterranean populations. Our findings may be helpful for population genetics study, and provide epidemiologic database for further studies in thrombosis field among Tunisians.
已知某些特定的遗传条件与静脉血栓栓塞的高风险相关。这种遗传基础在不同种族之间差异很大。我们通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对 113 名未经选择的突尼斯献血者中的四个遗传性多态性进行了研究。因子 V 莱顿（FVL）、凝血酶原 20210G>A、亚甲基四氢叶酸还原酶（MTHFR）677C>T 和 MTHFR 1298A>C 突变的等位基因频率分别为 3%、0.9%、30%和 31%。MTHFR 677C>T 多态性受年龄影响。113 名献血者中有 29 人表现出多种遗传标记。12 名受试者存在高同型半胱氨酸血症，与 MTHFR 677TT 基因型呈统计学相关。主成分分析揭示了地中海人群之间的相似性。我们的发现可能有助于群体遗传学研究，并为突尼斯人在血栓形成领域的进一步研究提供流行病学数据库。
