摘要
目的：探讨在ＡＣＥ基因１６内含子中的插入（Ｉ）／缺失（Ｄ）Ａｌｕ序列多态与中国北方人群中心肌梗塞发病的相关性及其作用机理。方法：采用ＰＣＲ方法对６５例心肌梗塞患者和９０例正常对照者的ＡＣＥＩ／Ｄ多态进行检测，同时将ＡＣＥ基因的１９０ｂｐ和４９０ｂｐ片段同氯霉素乙酰转移酶（ＣＡＴ）基因编码序列连接，构成表达载体（ｐＴＫ１９０ＣＡＴ和ｐＴＫ４９０ＣＡＴ），转染内皮细胞，进行ＣＡＴ活性检测。结果：在心肌梗塞患者中ＡＣＥ基因的ＤＤ基因型频率０．４３１明显高于对照组０．１５６（Ｐ＜０．０１），Ｄ等位基因频率０．５９１明显高于对照组０．３３３（Ｐ＜０．０１）。表达载体ＣＡＴ活性显示插入／缺失Ａｌｕ序列对表达无影响。结论：ＡＣＥ基因缺失多态与北方人群心肌梗塞发病相关，是心肌梗塞的一个独立危险因子。Ａｌｕ序列仅为中性遗传标记，无直接调控基因表达的功能。
Ojective: The angiotensin converting enzyme (ACE) plays an important role in the production of angiotensin Ⅱ and the degradation of bradykinin which is involved in cardiovascular homostasy. This study was designed to investigate the relationship between insertion/deletion (I/D) Alu polymorphism of ACE gene in intron 16 and myocardial infarction (MI) in north Chinese population and its molecular mechanism. Methods: The I/D polymorphism of ACE gene was examined by PCR in 65 patients with MI and 90 healthy subjects. The expression vectors (pTK190CAT and pTK490CAT) were constructed in which 190 bp and 490 bp of the ACE gene wre attached to the chloramphenicol acethyl transferase (CAT) coding sequence and transfected into the endothelial cells. Results: The ACE DD genotype frequence in patients with myocardial infarction was 0.431, higher than that the control (0.156) (P<0.01). D allele frequence in the former was 0.591, higher than that in the latter (0.333) (P<0.01). There were no differences between the expressive activities of pTK190CAT and pTK490CAT by CAT assay. Conclusions: The deletion polymprphism of the ACE gene was associated with MI and might be an important risk factor for MI in the north Chinese population. Alu sequence was only a genetic marker, it didn′t regulate ACE gene expression directly.
出处
《中国医科大学学报》
CAS
CSCD
北大核心
1998年第3期224-227,共4页
Journal of China Medical University
基金
辽宁省自然科学基金
关键词
心肌梗塞
ACE
基因多态性
myocardial infarction
angiotensin converting enzyme
gene polymorphism
