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目的 探讨国人凝血因子Ⅴ外显子 10中一个固定的错义突变 (FⅤLeiden突变 )发生率及其与抗心磷脂抗体 (aCL)和缺血性脑血管病 (ICVD)的关系。方法 应用聚合酶链反应和限制性片段长度多态性 (PCR RFLP)分析方法对国人 118例ICVD患者及 75名健康者进行FⅤLeiden突变检测 ,86例ICVD患者检测aCL ,2 7例进行抗活化蛋白C(APC R)检测。结果 (1) 6例 (5 1% )ICVD患者出现FⅤLeiden突变 ,且皆为杂合子 ,对照组中无一例发生突变 ,FⅤLeiden突变患者年龄较轻 ,平均年龄5 0岁。 (2 )ICVD组 2 7例检测了APC R ,8例阳性。 (3)aCL阳性患者FⅤLeiden突变发生率高于aCL阴性患者 ,本组FⅤLeiden突变患者共 6例 ,其中aCL阳性者 3例。结论 虽然FⅤLeiden突变在ICVD患者中发生率不高 ,但在血栓形成中起重要作用 ,年轻ICVD患者FⅤLeiden突变发生率更高。ICVD患者FⅤLeiden突变可能与aCL阳性有关。对于aCL阳性患者 ,特别是年轻、病因不明的ICVD患者应进行FⅤLeiden突变和APC R检测 ,以期指导诊断、预防和治疗。
Objective To investigate the incidence of a fixed missense mutation (FVLeiden mutation) in human factor Ⅴ exon 10 and its relationship with anticardiolipin antibodies (aCL) and ischemic cerebrovascular disease (ICVD). METHODS: The FVLeiden mutation was detected in 118 ICVD patients and 75 healthy controls by polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP). 86 ICCD patients were tested for aCL and 27 for anti-activation protein C (APC R) test. Results (1) FVLeiden mutations were found in all 6 cases (51%) of ICVD patients, and all of them were heterozygous. None of them in the control group had mutations. The FVLeiden mutation patients were younger and the average age was 50 years. (2) APC R was detected in 27 cases in ICVD group and 8 cases were positive. (3) The incidence of FVLeiden mutation in aCL positive patients is higher than that in aCL negative patients. A total of 6 patients with FVLeiden mutation were included in this study, of which 3 were aCL positive. Conclusions Although the FVLeiden mutation is not high in patients with ICVD, it plays an important role in thrombosis. The incidence of FVLeiden mutation in younger ICVD patients is higher. FVLeiden mutation in ICVD patients may be related to aCL positive. For aCL positive patients, especially young, ICVD patients of unknown etiology FVLeiden mutation and APC R test should be conducted to guide the diagnosis, prevention and treatment.