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目的建立FV Leiden突变的检测方法,研究分析新疆多民族冠心病人群中FV Leiden突变的发生率。方法应用聚合酶链反应(PCR)—限制性片段长度多态性分析(PCR-RFLP),对新疆地区213例冠心病个体(其中76例维吾尔族、54例哈萨克族、41例蒙古族和42例汉族)进行FV Leiden基因突变研究分析。结果新疆汉族及蒙古族冠心病个体均未检出FV Leiden基因突变类型包括纯合子和杂合子。维吾尔族冠心病个体检出FV Leiden基因突变杂合子1例,哈萨克族冠心病个体出现1例FV Leiden基因突变杂合子,检出率分别为1.32%和1.85%。结论新疆地区汉族和蒙古族冠心病人中未见到FVLeiden基因突变,而维吾尔族和哈萨克族冠心病人中发现有FVLeiden基因突变。FVLeiden突变可能不是新疆地区汉族和蒙古族冠心病人静脉血栓(VT)发病的主要危险因素,但维吾尔族和哈萨克族冠心病人不能除外,可能与其相关。
Objective To establish a method to detect FV Leiden mutation and study the incidence of FV Leiden mutation in multi-ethnic coronary heart disease in Xinjiang. Methods PCR-RFLP was used to analyze the association among 213 CHD patients (76 Uygur, 54 Kazakh, 41 Mongolian and 42 Han cases) for FV Leiden gene mutation analysis. Results None of the Han and Mongolian CHD patients in Xinjiang were detected as FV Leiden mutations including homozygous and heterozygous. One case of heterozygous mutation of FV Leiden gene was detected in Uighur coronary heart disease patients, and one case of heterozygous heterozygous mutation of Fiden Leiden gene in Kazak ethnicity patients. The detection rates were 1.32% and 1.85% respectively. Conclusion FVLeiden gene mutation was not observed in Han and Mongolian patients with coronary heart disease in Xinjiang region, but FVLeiden gene mutation was found in Uighur and Kazak people with coronary heart disease. The FVLeiden mutation may not be the major risk factor for the development of venous thrombosis (VT) in Han and Mongolian patients with coronary heart disease in Xinjiang region. However, Uighur and Kazak people with coronary heart disease may not be excluded and may be related to it.