Alderborn A, Siegbahn A, Wadelius C
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Eur J Haematol. 1997 Apr;58(4):229-32. doi: 10.1111/j.1600-0609.1997.tb01659.x.
Blood samples were collected from consecutive unrelated patients with venous thrombosis. The patients originate from the middle part of Sweden. We investigated the presence of the reported point mutation at nt 1691 of factor V which renders the protein resistant to cleavage by activated protein C (APC). Thirty-seven per cent of the patients were heterozygote carriers, and 4.5% were homozygotes for a mutated factor V gene. In addition, resistance to coagulation induced by APC was measured, both by the conventional APTT assay and by a modified APTT assay which has been reported to have an increased resolution. Compared to a control group of healthy people, the mean value was significantly lower in the patient group. A strong correlation between low APC ratio and presence of the factor V mutation was found. By using the modified method, a complete resolution of carriers of the factor V mutation and people with normal factor V alleles was found. However, there was still an overlap between heterozygote carriers and people homozygous for the mutation. The modified method was also found useful in patients treated with warfarin. Among 40 healthy blood donors 7% were found to be heterozygous.
从患有静脉血栓形成的连续无亲缘关系的患者中采集血样。这些患者来自瑞典中部。我们研究了凝血因子V第1691位核苷酸处报告的点突变的存在情况，该突变使蛋白质对活化蛋白C（APC）的切割具有抗性。37%的患者为杂合子携带者，4.5%的患者为突变凝血因子V基因的纯合子。此外，通过传统的活化部分凝血活酶时间（APTT）测定法和据报道分辨率更高的改良APTT测定法，测量了对APC诱导的凝血的抗性。与健康人对照组相比，患者组的平均值显著更低。发现低APC比率与凝血因子V突变的存在之间存在强相关性。通过使用改良方法，发现凝血因子V突变携带者和具有正常凝血因子V等位基因的人能够完全区分。然而，杂合子携带者与突变纯合子之间仍存在重叠。改良方法在接受华法林治疗的患者中也被证明是有用的。在40名健康献血者中，发现7%为杂合子。
