纤溶酶原Ala601Thr突变与血栓形成相关性研究

发布时间：2018-11-19 08:48

【摘要】：目的:通过严重血栓性疾病(深静脉血栓、血栓性脑梗塞)与Ala601Thr突变相关性研究,探讨该突变是否是血栓形成的独立危险因子,为血栓形成机理研究提供线索,为血栓病的基因治疗提供依据。 方法:深静脉血栓(DVT)病例66例(彩色多普勒超声检查确诊),血栓性脑梗塞(CI)病例67例(依据临床表现与CT/MRI检查确诊),对照组120例(无症状受检者)。采用PCR-RFLP法对上述病例纤溶酶原ⅩⅤ外显子Ala601Thr基因突变进行检测。 结果:对无症状体检对照组、深静脉血栓病例组、血栓性脑梗塞病例组Ala601Thr基因突变基因型频率及基因频率进行Hardy-Weinbarg平衡(HWE)检验,对照组P=0.63,DVT组P=0.90,CI组P=0.90,均具有群体代表性。 计算对照组、DVT组、CI组纯合野生型基因型(GG型)频率分别为0.92、0.97、0.97,杂合型基因型(GA型)频率分别为0.08,0.03,0.03,各组中均未检测出纯合突变型(AA型)样本;野生型(G型)基因频率分别为0.96、0.985、0.985,突变型基因(A型)频率分别为0.04,0.015,0.015。 用校正X~2检验(Fisher's Exact Test)分别检验基因型与等位基因在对照组与DVT组、对照组与CI组之间的相关性,对照组与DVT组检验中,基因型与等位基因P值分别为0.218和0.226,对照组与CI组检验中,基因型与等位基因P值分别为0.217和0.225,均无明显统计学差别。 结论:纤溶酶原15外显子Ala601Thr基因突变不是血栓形成的独立危险因子,可能与其他基因以及外界环境共同作用参与血栓形成。
[Abstract]:Objective: to study the relationship between Ala601Thr mutation and severe thrombotic diseases (deep vein thrombosis, thrombotic cerebral infarction), and to explore whether the mutation is an independent risk factor for thrombosis, and to provide clues for the study of thrombogenesis mechanism. To provide evidence for gene therapy of thrombus. Methods: there were 66 cases of (DVT) with deep venous thrombosis (diagnosed by color Doppler ultrasound), 67 cases of thrombotic cerebral infarction (diagnosed by clinical manifestation and CT/MRI), and 120 cases of control group (asymptomatic patients). The mutation of Ala601Thr gene in exon 鈪，

本文编号：2341764