首页> 外文期刊>Molecular biology reports >Evaluation of Factor V G1691A, prothrombin G20210A, Factor XIII V34L, MTHFR A1298C, MTHFR C677T and PAI-1 4G/5G genotype frequencies of patients subjected to cardiovascular disease (CVD) panel in south-east region of Turkey
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Evaluation of Factor V G1691A, prothrombin G20210A, Factor XIII V34L, MTHFR A1298C, MTHFR C677T and PAI-1 4G/5G genotype frequencies of patients subjected to cardiovascular disease (CVD) panel in south-east region of Turkey

机译:在土耳其东南部地区接受心血管疾病(CVD)评估的患者对因子V G1691A,凝血酶原G20210A,因子XIII V34L,MTHFR A1298C,MTHFR C677T和PAI-1 4G / 5G基因型频率的评估

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摘要

Cardiovascular disease (CVD) risk factors, such as arterial hypertension, obesity, dyslipidemia or diabetes mellitus, as well as CVDs, including myocardial infarction, coronary artery disease or stroke, are the most prevalent diseases and account for the major causes of death worldwide. In the present study, 4,709 unrelated patients subjected to CVD panel in south-east part of Turkey between the years 2010 and 2013 were enrolled and DNA was isolated from the blood samples of these patients. Mutation analyses were conducted using the real-time polymerase chain reaction method to screen six common mutations (Factor V G1691A, PT G20210A, Factor XIII V34L, MTHFR A1298C and C677T and PAI-1 -675 4G/5G) found in CVD panel. The prevalence of these mutations were 0.57, 0.25, 2.61, 13.78, 9.34 and 24.27 % in homozygous form, respectively. Similarly, the mutation percent of them in heterozygous form were 7.43, 3.44, 24.91, 44.94, 41.09 and 45.66 %, respectively. No mutation was detected in 92 (1.95 %) patients in total. Because of the fact that this is the first study to screen six common mutations in CVD panel in south-east region of Turkey, it has a considerable value on the diagnosis and treatment of these diseases. Upon the results of the present and previous studied a careful examination for these genetic variants should be carried out in thrombophilia screening programs, particularly in Turkish population.
机译:心血管疾病(CVD)的危险因素,例如动脉高血压,肥胖,血脂异常或糖尿病,以及CVD(包括心肌梗塞,冠状动脉疾病或中风)是最普遍的疾病,并且是全球范围内主要的死亡原因。在本研究中,招募了2010年至2013年间在土耳其东南部接受CVD手术的4709名无关患者,并从这些患者的血液样本中分离了DNA。使用实时聚合酶链反应方法进行突变分析,以筛选在CVD面板中发现的六个常见突变(因子V G1691A,PT G20210A,因子XIII V34L,MTHFR A1298C和C677T和PAI-1 -675 4G / 5G)。这些突变的纯合型患病率分别为0.57%,0.25、2.61、13.78、9.34和24.27%。同样,它们杂合形式的突变百分数分别为7.43、3.44、24.91、44.94、41.09和45.66%。总共92例(1.95%)患者未检测到突变。由于这是首次在土耳其东南部地区筛查CVD面板中六个常见突变的研究,因此对这些疾病的诊断和治疗具有重要价值。根据目前和以前的研究结果,应在血栓形成性筛查计划中对这些遗传变异进行仔细检查,尤其是在土耳其人口中。

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