Lew Andowski K L, Rozek M, Turowiecka Z, Markiewicz W T, Zawilska K
Kliniki Hematologii Akademii Medycznej im. K. Marcinkowskiego.
Pol Arch Med Wewn. 1996 May;95(5):464-70.
The presence of point mutation G-->A of nucleotide 1691 of Factor V gene (Leiden mutation) is responsible for the resistance of factor Va to activated protein C (APC-resistance) and is associated with an increased risk for thrombosis. Herein, we reported on a case of 20 year male with a two years history of recurrent, extensive deep vein thrombosis. His family history showed grand-mother from mother side, who died from thromboembolic disease many years ago. His laboratory investigation reveals abnormal results of APC-resistance test (R = 1.80) and normalized APC-resistance test sensitivity ratio (0.57). Moreover, on the basis of a sequence specific primer polymerase chain reaction (SSP-PCR) a heterozygous from (G/A at 1691 position) of Leiden mutation was found. Family study showed two between 8 others asymptomatic persons with abnormal results of APC-resistance test and heterozygous genotype.
凝血因子V基因1691位核苷酸的点突变G→A（莱顿突变）导致因子Va对活化蛋白C产生抵抗（抗活化蛋白C），并与血栓形成风险增加相关。在此，我们报告了一例20岁男性，有两年复发性广泛性深静脉血栓形成病史。其家族史显示，母系祖母多年前死于血栓栓塞性疾病。实验室检查显示，其抗活化蛋白C试验结果异常（R = 1.80），抗活化蛋白C试验敏感性比值正常化（0.57）。此外，基于序列特异性引物聚合酶链反应（SSP-PCR），发现了莱顿突变的杂合子形式（1691位为G/A）。家族研究显示，在其他8名无症状者中，有2人抗活化蛋白C试验结果异常且为杂合基因型。
