Clark B, Caine C, McSweeney E N, McVerry B A, Gooi H C
Department of Pathology, St James's University Hospital Trust, Leeds LS9 7TF.
Clin Mol Pathol. 1996 Aug;49(4):M223-4. doi: 10.1136/mp.49.4.m223.
Aim-To determine the relation of the low anticoagulant response phenotype with the Factor V Q506 (Leiden) mutation in a cohort of patients with thrombophilia.Methods-Fifty four patients with either a personal or family history of deep vein thrombosis were investigated both for their anticoagulant response by the activated protein C resistance test (APCR) and their genetic status in respect of the Leiden mutation by means of a PCR-RFLP method.Results-Low APCR ratios do not necessarily predict possession of the Leiden mutation. Conversely, normal ratios do not exclude the mutation. Of 14 individuals with low APCR ratios, the Leiden mutation was absent in five. Of the remainder, three were heterozygous and six homozygous. Of nine heterozygote individuals, only three had low APCR ratios. All patients homozygous for the defect had low APCR ratios.Conclusions-These results lend further weight to the hypothesis that the APC resistant phenotype results from more than one genetic defect and indicate the value of combined functional and molecular investigations in all patients with thrombophilia.
目的——确定在一群血栓形成倾向患者中低抗凝反应表型与凝血因子V Q506（莱顿）突变之间的关系。方法——对54例有个人或家族性深静脉血栓形成病史的患者进行活化蛋白C抵抗试验（APCR）以检测其抗凝反应，并通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测其莱顿突变的基因状态。结果——低APCR比值不一定预示着存在莱顿突变。相反，正常比值也不能排除该突变。在14例APCR比值低的个体中，5例不存在莱顿突变。其余个体中，3例为杂合子，6例为纯合子。在9例杂合子个体中，只有3例APCR比值低。所有该缺陷的纯合子患者APCR比值均低。结论——这些结果进一步支持了抗活化蛋白C（APC）表型由多种遗传缺陷导致这一假说，并表明对所有血栓形成倾向患者进行功能和分子联合检测的价值。
