先天性心脏病患者外周血中Akt1基因PH结构域的突变  

Mutation of the PH domain of Akt1 gene in peripheral blood of patients with congenital heart diseases

作　　者：束亚琴[1] 常在[2] 莫绪明[1] 杨中州[2] 

机构地区：[1]南京医科大学附属南京儿童医院心胸外科,210008 [2]南京大学模式动物研究所暨国家遗传工程小鼠资源库

出　　处：《江苏医药》2009年第9期996-998,I0001,共4页Jiangsu Medical Journal

基　　金：国家自然科学基金(NSFC30500264);科技部重大科学研究计划(2006CB943500);江苏省自然科学基金(BK2007011)

摘　　要：目的探讨Akt1基因与先天性心脏病(CHD)发病之间的关系。方法应用PCR-DNA测序技术在18例先天性心脏病患儿外周血中筛查蛋白激酶1(Akt1)基因PH结构的突变情况。结果18例样本中,未见Akt1编码区的突变,但在Akt1内含子部分筛查到1个单核苷酸基因多态性(SNPs)位点rs3730358,Western blot技术分析显示伴有该SNP的样本中,Akt1蛋白表达水平降低。结论Akt1基因SNPs影响Akt1的蛋白表达水平,可能与CHD的发病有关。Objective To analyze the relationship between mutation of Akt1 and development of congenital heart disease（CHD）, Methods Mutation of the PH domain of Akt1 gene in peripheral blood was analyzed with PCR-DNA sequencing tecnique in 18 patients with CHD. Results Of 18 sambles,there was no mutation of Akt1, but single nucleid polymorphisms （SNPs） in one Akt1 was seen. Western blotting analysis showed that the sample with rs3730358 had lower Akt1 protein level. Conclusion The findings imply that Akt1 gene SNPs have an effect on the expression of Akt1 and may play a role in the pathogenesis of CHD.

关 键 词：先天性心脏病 Akt1基因 单核苷酸多态性 

分 类 号：R541[医药卫生—心血管疾病]