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目的 观察雌激素受体 (ER)基因多态性在中国汉族人群中的分布及其与冠心病 (CHD)的关系。方法 应用聚合酶链反应 (PCR)和限制性片段长度多态性 (RFLP)方法检测 1 35例CHD患者和 1 1 8例正常对照者ER基因型 ,结合血脂水平、选择性冠状动脉造影 (SCA)结果探讨两者间的关系。结果 ER等位基因X、x和P、p频率在冠心病组和对照组分别为 0 1 70、0 830 ,0 1 69、0 831 ;0 2 56、0 744,0 339、0 661。基因型频率分布符合Hardy Weinberg平衡定律。XbaⅠ酶切多态性基因型频率、等位基因频率及结合XbaⅠ和PvuⅡ两个酶切多态性分析在组内、组间比较差异均无显著性 (P >0 0 5) ,且ER基因型间血脂水平、SCA结果在组内比较均无统计学意义 (P >0 0 5)。但是 ,PvuⅡ酶切多态性在正常对照组与CHD组以及心肌梗死组与心绞痛组比较有明显差异 (P <0 0 5)。结论 在CHD人群中存在着ERXbaⅠ和PvuⅡ基因多态性 ,其中XbaⅠ酶切多态性与CHD无相关性 (P >0 0 5) ,而ERPvuⅡ酶切多态性与冠心病有相关性 (P <0 0 5) ,PvuⅡ基因多态性可能是CHD发病的危险因素之一。
Objective To investigate the distribution of estrogen receptor (ER) gene polymorphism in Chinese Han population and its relationship with coronary heart disease (CHD). Methods The genotypes of ER in 35 CHD patients and 118 normal controls were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The levels of serum lipids, selective coronary angiography (SCA) The results explore the relationship between the two. Results The frequency of X, X, P and P of ER allele in CHD group and control group were 0 1 70,0 830, 0 1 69,0 831, 0 2 56,0 744,0 339,0 661, respectively. Genotype frequency distribution in line with Hardy Weinberg equilibrium law. There was no significant difference between the two groups in the frequencies of Xba Ⅰ polymorphism genotypes, allele frequencies and polymorphisms of Xba Ⅰ and Pvu Ⅱ (P> 0.05) Type of blood lipid levels, SCA results in the group were not statistically significant (P> 0.05). However, Pvu Ⅱ restriction enzyme digestion polymorphism in the normal control group and CHD group and myocardial infarction group and angina group were significantly different (P <0 05). Conclusion There are polymorphisms of ERXbaⅠ and PvuⅡ in CHD population, but there is no correlation between XbaⅠ polymorphism and CHD (P> 0.05), while ERPvuⅡ polymorphism is associated with coronary heart disease (P <0 0 5), Pvu Ⅱ gene polymorphism may be one of the risk factors for the pathogenesis of CHD.