Laboratory for molecular medicine, Center for genetics, Medical Faculty, University of Sarajevo, Čekaluša 90, 71 000 Sarajevo, Bosnia and Herzegovina.
Bosn J Basic Med Sci. 2013 Feb;13(1):31-3. doi: 10.17305/bjbms.2013.2410.
Factor V is the liver-synthesized multidomain glycoprotein encoded by a gene localised on chromosome 1q23. The point mutation 1691G>A in this gene results in formation of an altered protein of V Factor resistant to activated protein C (APC) cleavage. This mutation alone is the most frequent cause of inborn thrombophilia and the most widely acknowledged genetic risk factor for venous thrombosis in a Caucasian population. This study was designed to provide the first estimate of the frequency of the allele 1691A FV in the Bosnian female population. The 1691G>A FV mutation was examined by polymerase chain reaction-restriction fragment length polymorphism, in a group of 67 women, mean age of 58.6 years with no history of cardiovascular incident. Our findings revealed an absence of the mutated allele 1691A FV in the studied group. This is the first report on the 1691G>A FV mutation in a population from Bosnia and Herzegovina. Further research is needed to establish prevalence of the mutated allele in the population from Bosnia and Herzegovina.
因子 V 是一种肝脏合成的多结构域糖蛋白，由位于染色体 1q23 上的基因编码。该基因中的点突变 1691G>A 导致形成一种 APC 切割抵抗的异常 V 因子蛋白。这种突变是遗传性血栓形成倾向最常见的原因，也是白种人群静脉血栓形成最广泛认可的遗传危险因素。本研究旨在首次评估 1691A 等位基因 FV 在波斯尼亚女性人群中的频率。通过聚合酶链反应-限制性片段长度多态性，在一组 67 名年龄平均为 58.6 岁、无心血管事件史的女性中检测到 1691G>A FV 突变。我们的研究结果显示，在研究组中不存在突变的等位基因 1691A FV。这是首次在波斯尼亚和黑塞哥维那人群中报告 1691G>A FV 突变。需要进一步研究以确定突变等位基因在波斯尼亚和黑塞哥维那人群中的流行率。
