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200名健康约旦人凝血因子V莱顿突变、凝血酶原G20210A突变和亚甲基四氢叶酸还原酶C677T突变的患病率

Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in 200 healthy Jordanians.

作者信息

Eid Suhair S, Rihani Ghada

机构信息

Molecular Laboratory, King Hussein Medical Centre, Jordan.

出版信息

Clin Lab Sci. 2004 Fall;17(4):200-2.

Abstract

Thrombophilia is now considered a multi-causal condition, with interplay of acquired genetic risk factors. In order to estimate the frequency of the factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in the Jordanian population, we screened 200 healthy Jordanian individuals. 40% were females. Mean age was 32.1 years for males and 30.0 years for female participants. A PCR method detected 15.0% factor V Leiden (87% heterozygous, 13% homozygous), 2% prothrombin G20210A (100% heterozygous), and 24% MTHFR C677T (67% heterozygous, 33% homozygous). We conclude that the prevalence of factor V Leiden and MTHFR C677T is elevated in this population of Jordanians. However the incidence of G20210A is relatively low. Quantification of these genetic thrombosis risk factors in various populations will contribute to a better understanding of the interaction of genetic and environmental risk factors.

摘要

血栓形成倾向现在被认为是一种多因素导致的病症,涉及后天遗传风险因素的相互作用。为了估计约旦人群中因子V莱顿突变、凝血酶原G20210A突变和亚甲基四氢叶酸还原酶(MTHFR)C677T突变的频率,我们对200名健康的约旦人进行了筛查。其中40%为女性。男性参与者的平均年龄为32.1岁,女性参与者的平均年龄为30.0岁。一种聚合酶链反应(PCR)方法检测到15.0%的因子V莱顿突变(87%为杂合子,13%为纯合子),2%的凝血酶原G20210A突变(100%为杂合子),以及24%的MTHFR C677T突变(67%为杂合子,33%为纯合子)。我们得出结论,在这一约旦人群中,因子V莱顿突变和MTHFR C677T突变的患病率有所升高。然而,G20210A突变的发生率相对较低。对不同人群中这些遗传性血栓形成风险因素进行量化,将有助于更好地理解遗传和环境风险因素之间的相互作用。

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