AngⅡ受体1基因与肥厚型心肌病的关系研究

Investigation of the Relationship Between Polymorphism of Angiotensin Ⅱ Receptor 1 Gene and Hypertrophic Cardiomyopathy in a Chinese Population

目的 探讨中国人群Ａｎｇ Ⅱ受体１多态性与肥厚型心肌病（ＨＣＭ）发病的关系。方法 运用等位基因特异性寡核苷酸杂交（ＡＳＯ）技术，对３５例ＨＣＭ患者和４４例正常对照的ＡＴ１基因Ａ~１１６６→Ｃ多态性进行检测。结果 发现ＨＣＭ组中ＡＡ基因型３２例，ＡＣ基因型３例；对照组中ＡＡ基因型４０例，ＡＣ基因型４例。两组等位基因Ａ／Ｃ频率无显著差别（Ｐ＞０．０５）。结论 ＨＣＭ发病可能与ＡＴ１基因变异无关。

Objective The present study was designed to illustrate the relationship between hypertrophic cardiomyopathy (HCM) and A^1166-C polymorphism of the AT1 gene. Methods We analyzed 35 patients with HCM and 44 healthy controls by allele specific oligo hybridization for detecting polymorphism. Results The result revealed that AA and AC genotype in HCM patients were 32 and 3 respectively, while those in healthy controls were 40 and 4 respectively. Statistically, the A/C allele frequency of the two groups did not show significant difference (P>0.05), and no CC genotype was found in either group. Conclusion HCM is not related to AT1 gene variation.