【摘要】 目的　研究我国汉族人群中血管性血友病因子裂解酶 (vWF cp)基因C14 2 3T多态性的分布频率及其与血栓性疾病的相关性。方法　应用PCR技术结合酶切分析、聚丙烯酰胺凝胶电泳研究来自我国三个不同地区 4 0 0名汉族人vWF cp中C14 2 3T多态性的分布特点。同时 ,根据病例对照研究 ,比较了健康对照和血栓性疾病患者中该多态性的分布频率。结果　我国汉族人群中C14 2 3T的基因频率分别为 98.5 %和 1.5 % ,总理论杂合率为 2 .96 % ,不同地区人群杂合率不同 ,但未发现 14 2 3T T纯合子。该多态性的基因型与基因频率在健康对照和血栓性疾病患者中相似。结论　vWF cp基因C14 2 3T多态性在我国汉族人群中频率较低 ,尽管它影响vWF cp的酶活性。更多还原

【Abstract】 Objective The C1423T polymorphism in von Willebrand factor-cleaving protease (vWF-cp) gene affects its enzyme activity. The present study was to investigate the polymorphism frequency among Chinese Han population and its relevance to arterial thrombotic disorders. Methods An amplified 366 bp fragment of human vWF-cp gene was analyzed by Rsa Ⅰ restriction assay in 400 unrelated individuals including 150 with acute ischemic stroke (AIS),103 with acute myocardial infarction (AMI) and 147 age- and gender-matched healthy controls. The resulting products were analyzed by 12% polyacrylamide gels electrophoresis and stained with ethidium bromide. Results Twelve cases were C1423T heterozygous,the C1423T frequencies were 98.5% and 1.5%,and the heterozygosity and allele frequency were 3% and 1.5%,respectively,which were remarkably lower than those reported in Japanese population. No 1423T/T homozygote was found. Besides,there was no significant difference between healthy controls and patients with thrombotic disorders. Conclusion C1423T polymorphism is low frequency in both controls and patients of Han population.更多还原