發(fā)布時間：2018-11-19 08:48

【摘要】：目的:通過嚴重血栓性疾病(深靜脈血栓、血栓性腦梗塞)與Ala601Thr突變相關(guān)性研究,探討該突變是否是血栓形成的獨立危險因子,為血栓形成機理研究提供線索,為血栓病的基因治療提供依據(jù)。 方法:深靜脈血栓(DVT)病例66例(彩色多普勒超聲檢查確診),血栓性腦梗塞(CI)病例67例(依據(jù)臨床表現(xiàn)與CT/MRI檢查確診),對照組120例(無癥狀受檢者)。采用PCR-RFLP法對上述病例纖溶酶原ⅩⅤ外顯子Ala601Thr基因突變進行檢測。 結(jié)果:對無癥狀體檢對照組、深靜脈血栓病例組、血栓性腦梗塞病例組Ala601Thr基因突變基因型頻率及基因頻率進行Hardy-Weinbarg平衡(HWE)檢驗,對照組P=0.63,DVT組P=0.90,CI組P=0.90,均具有群體代表性。 計算對照組、DVT組、CI組純合野生型基因型(GG型)頻率分別為0.92、0.97、0.97,雜合型基因型(GA型)頻率分別為0.08,0.03,0.03,各組中均未檢測出純合突變型(AA型)樣本;野生型(G型)基因頻率分別為0.96、0.985、0.985,突變型基因(A型)頻率分別為0.04,0.015,0.015。 用校正X~2檢驗(Fisher's Exact Test)分別檢驗基因型與等位基因在對照組與DVT組、對照組與CI組之間的相關(guān)性,對照組與DVT組檢驗中,基因型與等位基因P值分別為0.218和0.226,對照組與CI組檢驗中,基因型與等位基因P值分別為0.217和0.225,均無明顯統(tǒng)計學(xué)差別。 結(jié)論:纖溶酶原15外顯子Ala601Thr基因突變不是血栓形成的獨立危險因子,可能與其他基因以及外界環(huán)境共同作用參與血栓形成。
[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，

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