【摘要】 目的 研究醛固酮合成酶(CYP11B2)基因-344T/C多态性与高血压性脑出血的关系。方法 应用多聚酶链-限制性片段长度多态性(PCR-RFLP)技术，检测高血压性脑出血组132例、高血压对照组146例和正常对照组329例患者CYP11B2-344T/C基因的多态性。结果 脑出血组TC基因型的频率显著高于正常对照组，分别为37.12%和27.96%，CC基因型的频率显著高于正常对照组和高血压对照组，分别为11.36%、6.69%和5.48%；脑出血组C等位基因的频率也显著高于正常对照组和高血压对照组，分别为29.92%、20.67%和20.21%。结论 醛固酮合成酶基因-344T/C多态性与高血压性脑出血相关；C等位基因可能是中国人高血压性脑出血的一个遗传标志。

    【关键词】 醛固酮合成酶；基因；多态性；脑出血；高血压

    Association between aldosterone synthase gene polymorphism and hypertensive intracerebral hemorrhage

    WANG Xiu-yan,YUAN Jian-xin,SONG Sheng-bin,et al.

    Department of Neurology,Kailuan Hospital Affiliated to North China Coal Medical College,Tangshan 063000，China

    【Abstract】 Objective To study the relationship of aldosterone synthase (CYP11B2) gene -344T/C polymorphism and hypertensive intracerebral hemorrhage(HICH).Methods 132 patients with HICH(HICH group), 146 patients with essential hypertention(EH group) and 329 healthy subjects as normal control group were enrolled,all of whose-344T/C polymorphism of CYP11B2 gene were monitored by polymerize chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology.Results The proportion of TC genetype in HICH group was significantly higher than in normal control group (37.12% and 27.96%),the proportion of CC genetype in HICH group was significantly higher than in normal control group and EH group (11.36%,6.69% and 5.48%); The proportion of C allele in HICH group was 29.92%,significantly higher than in normal control group and EH group(20.67% and 20.21%).Conclusion The -344T/C polymorphism in the CYP11B2 gene is associated with HICH in China,C allele may be a genetic marker in HICH in China. ......