Department of Biology and Biotechnology, Hashemite University, Zarqa, Jordan,
Biochem Genet. 2013 Oct;51(9-10):780-8. doi: 10.1007/s10528-013-9606-9. Epub 2013 Jun 8.
Methylenetetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphism is a major inherited risk factor of venous thromboembolism. We sought to determine its prevalence in genetically isolated populations of Chechens and Circassians in Jordan. The MTHFR C677T mutation was analyzed from blood samples taken from 120 random unrelated Chechens and 72 Circassians. The prevalence of the MTHFR mutation in the Chechen population was 27.5% (allele frequency 15%); the prevalence among the Circassians was 50% (allele frequency 29.2%). The prevalence in the Chechen population is similar to that in Jordan and other world populations, but it is higher in the Circassian population. This study will contribute to understanding the interaction between genetic and environmental risk factors underlying thrombosis and will be useful in deciding which genetic variants should be tested in a clinical genetic testing service.
亚甲基四氢叶酸还原酶（MTHFR）C677T 单核苷酸多态性是静脉血栓栓塞的主要遗传危险因素。我们试图确定其在约旦的车臣人和切尔克斯人这两个遗传隔离人群中的流行率。从 120 名随机无关的车臣人和 72 名切尔克斯人的血液样本中分析了 MTHFR C677T 突变。车臣人群中 MTHFR 突变的流行率为 27.5%（等位基因频率为 15%）；切尔克斯人则为 50%（等位基因频率为 29.2%）。车臣人群的流行率与约旦和其他世界人群相似，但切尔克斯人群的流行率更高。这项研究将有助于了解血栓形成背后遗传和环境危险因素的相互作用，并有助于决定在临床遗传检测服务中应检测哪些遗传变异。
