摘要
目的观察中国华南地区汉族人群醛固酮合成酶(CYP11B2)基因-344C/T多态性与肥厚型心肌病(HCM)的相关性。方法以15 例HCM患者和18例正常对照为研究对象,采集血样本并提取白细胞和基因组DNA。应用PCR、限制性内切酶方法检测CYP11B2基因的多态性分布。结果HCM 组CYP11B2基因-344C/T多态性与对照组比较,CT基因型分布有显著性差异。结论CYP11B2基因-344CT基因型可能是部分人群HCM发生的因素之一。
Objective To investigate the relationship between aldosterone synthase (CYP11B2) gene polymorphism and hypertrophic cardiomyopathy (HCM). Methods Fifteen HCM patients and 18 healthy subjects were enrolled in this study. Peripheral blood samples were collected from these subjects to extact genome DNA. PCR and HaeⅢrestriction endonuclease digestion were employed to study -344C/T polymorphism of CYP11B2 gene. Results CYP11B2 gene showed a significant difference in CT genotype distribution in HCM groups as compared with that in the control groups (P<0.05). Conclusion CT genotype of CYP11B2 gene may be one of factors responsible for the pathogenesis of HCM in a proportion of patients.
出处
《第一军医大学学报》
CSCD
北大核心
2002年第8期704-706,共3页
Journal of First Military Medical University
基金
广东省自然科学基金(990420)
1999年军队回国人员启动基金
关键词
甾类羟化酶类
多态现象
肥大性心肌病
steroid hydroxylases
gene polymorphism
cardiomyopathy, hypertrophic
