El Sissy Azza Hamdy, El Sissy Maha H, Elmoamly Shereef
National Cancer Institute, Cairo University, Giza, Egypt,
Med Oncol. 2014 Nov;31(11):265. doi: 10.1007/s12032-014-0265-4. Epub 2014 Sep 27.
Factor V Leiden 1691G/A and prothrombin gene 20210G/A mutations are the most common genetic defects leading to thrombosis. This work aimed to study the FV Leiden and the prothrombin gene polymorphism in adult Egyptian patients with acute leukemia and their importance in thrombophilia screening. The study included 76 patients with acute leukemia and 100 healthy controls. Genotyping was done by real-time polymerase chain reaction technique. For factor V Leiden, the frequency of G/A mutation conferred more than 2.5-fold of increased risk of (OR 2.639 95 % CI 1.045-6.669). The frequency of factor V Leiden combined (G/A + A/A) genotypes conferred 2.83-fold of increased risk (OR 2.828, CI 1.13-7.075), The A allele conferred almost threefold increased risk (OR 2.824, 95 % CI 1.175-6.785). Despite higher frequency in patients compared to controls, there was no risk of association between prothrombin gene mutation and acute leukemia in adult Egyptians nor was there between combined genotypes of prothrombin gene mutation and factor V Leiden.
凝血因子V莱顿1691G/A突变和凝血酶原基因20210G/A突变是导致血栓形成的最常见遗传缺陷。这项研究旨在探讨成年埃及急性白血病患者中凝血因子V莱顿和凝血酶原基因多态性及其在血栓形成倾向筛查中的重要性。该研究纳入了76例急性白血病患者和100例健康对照。采用实时聚合酶链反应技术进行基因分型。对于凝血因子V莱顿，G/A突变频率使风险增加超过2.5倍（比值比2.639，95%可信区间1.045 - 6.669）。凝血因子V莱顿合并（G/A + A/A）基因型频率使风险增加2.83倍（比值比2.828，可信区间1.13 - 7.075），A等位基因使风险增加近三倍（比值比2.824，95%可信区间1.ll75 - 6.785）。尽管患者中的频率高于对照组，但在成年埃及人中，凝血酶原基因突变与急性白血病之间以及凝血酶原基因突变与凝血因子V莱顿的合并基因型之间均无关联风险。
