Irdem Ahmet, Devecioglu Celal, Batun Sabri, Soker Murat, Sucakli Iclal A
Department of Pediatrics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey.
Saudi Med J. 2005 Apr;26(4):580-3.
To determine the prevalence of factor V Leiden (FVL) and prothrombin gene (PG) 20210A mutations in patients who attended the outpatient clinic and do not have a family history of thrombosis.
We researched FVL and PG20210A mutations in 151 outpatients (92 males and 59 females) who attended the Pediatrics Polyclinic, Medical Faculty, Dicle University, Turkey between May 2002 and July 2002. Peripheral venous bloods (2 cc) with ethylenediaminetetraacetic acid were used to isolate DNA by high pure polymerase chain reaction (PCR). Later, by using light-cycler FVL (Roche) and prothrombin mutation detection kit (Roche) and light-cycler equipment, FVL and PG20210A gene mutations were determined from the samples in the glass capillary tubes by PCR specific adaptation. For active protein C (APC) resistance, STA-STACLOT APC-R Detection Kit was used. Expected values were evaluated with STA equipment and using STA-STACLOT APC-R procedure.
The prevalence of heterozygote mutations of FVL was 4.6% and PG20210A was 0.7%. The FVL mutation frequency obtained in our study is lower than the other studies in Turkey, but in correlation with the results of the other Caucasian populations throughout the world. Active protein C resistance in patients carrying heterozygote mutation of FVL has been found in low rates. Factor V Leiden and PG20210A were confronted in high prevalences in patients who suffer venous thrombosis (VT) CONCLUSION: Scanning of FVL and PG20210A gene mutations may be recommended in high risk groups such as relatives of FVL and PG20210A carriers and relatives of patients with VT, and in during pregnancy, the use of oral contraceptives and before surgery. Routine scanning of FVL and PG20210A gene mutations is not recommended in people who do not have risk factors for VT.
确定在门诊就诊且无血栓形成家族史的患者中因子V莱顿（FVL）和凝血酶原基因（PG）20210A突变的患病率。
我们研究了2002年5月至2002年7月期间在土耳其迪亚尔巴克尔大学医学院儿科综合门诊就诊的151名门诊患者（92名男性和59名女性）中的FVL和PG20210A突变。使用含有乙二胺四乙酸的外周静脉血（2毫升）通过高纯聚合酶链反应（PCR）分离DNA。随后，使用LightCycler FVL（罗氏）和凝血酶原突变检测试剂盒（罗氏）以及LightCycler设备，通过PCR特异性适配从玻璃毛细管中的样本中确定FVL和PG20210A基因突变。对于活化蛋白C（APC）抵抗，使用STA-STACLOT APC-R检测试剂盒。使用STA设备并采用STA-STACLOT APC-R程序评估预期值。
FVL杂合子突变的患病率为4.6%，PG20210A为0.7%。我们研究中获得的FVL突变频率低于土耳其的其他研究，但与世界其他高加索人群的结果相关。携带FVL杂合子突变的患者中活化蛋白C抵抗发生率较低。FVL和PG20210A在静脉血栓形成（VT）患者中的患病率较高。结论：对于FVL和PG20210A携带者的亲属、VT患者的亲属等高危人群，以及在怀孕期间、使用口服避孕药期间和手术前，建议进行FVL和PG20210A基因突变筛查。对于没有VT危险因素的人群，不建议常规筛查FVL和PG20210A基因突变。
