新疆地区慢性心力衰竭患者NPPB基因突变分析  

Analysis of NPPB gene mutations in patients with chronic heart failure in Xinjiang Region

作　　者：马建军[1] 阿米娜.马合木提 高学忠[1] 周贤惠[2] MA Jianjun amina·Mai he mu ti GAO Xuezhong et al(Department of Cardilolgy, the First People＇s Hospital of Xinjiang Aksu, Aksu 843000, Chin)

机构地区：[1]新疆阿克苏地区第一人民医院心内科,843000 [2]新疆医科大学第一附属医院心内科

出　　处：《心电与循环》2017年第3期156-160,共5页Journal of Electrocardiology and Circulation

基　　金：新疆维吾尔自治区级自然科学基金(201318101-10)

摘　　要：目的探讨新疆地区慢性心力衰竭与NPPB基因变异之间的关系。方法选择新疆阿克苏地区第一人民医院门诊或者住院部确诊为慢性心力衰竭患者172例作为观察组,将其分为观察组W亚组(维吾尔族心力衰竭患者)91例、观察组H亚组(汉族心力衰竭患者)81例。另选择同期200例健康志愿者作为对照组,将其分为对照组W亚组(维吾尔族健康志愿者)100例;对照组H亚组(汉族健康志愿者)100例。提取4组对象外周血DNA,经PCR技术扩增NPPB基因的3个外显子,对目的基因进行测序,再将结果与Pub Med中Blast软件中的NPPB进行对比,分析NPPB基因的突变位点与维吾尔族和汉族心力衰竭患者之间的关系。结果 NPPB基因多态位点rs198388、rs198389均有群体代表性,rs198388、rs198389在观察组W亚组、观察组H亚组患者、对照组W亚组、对照组H亚组之间,无论基因型分布还是等位基因频率差异均无统计学意义(P>0.05)。4组不同基因型之间BNP水平差异均无统计学意义(均P>0.05)。结论 NPPB基因rs198388、rs198389多态位点与中国新疆地区慢性心力衰竭患者不存在关联。Objective To explore whether natriuretic peptide precursor B （NPPB） gene mutation is associated with chronic heart failure （CHF） in China＇s Xinjiang uygur autonomous region. Methods 172 inpatients and outpatients with CHF presented to Aksu people＇s hospital were enrolled and divided into uighurs group （n=91） and han group （n=81）. 200 healthy volunteers （100 han people and 100 uighurs people） were selected as control group. DNA was extracted from peripheral blood and three exons of NPPB gene were amplified by PCR. Target gene sequencing was performed and the results were checked by Blast software in Pubmed. The relation between the mutation site of NPPB gene and heart failure in Uygur and Han patients was analyzed. Results The NPPB gene polymorphism sites, rs198388 and rs198389, were representative of Xinjiang population. Genotype distribution and allele frequency of rs198388 and rs198389 were not significantly different （P 〉0.05） among Uygur and Han patients with heart failure, and healthy volunteers. BNP levels were not significantly different between different genotypes （P 〉0.05）. Conclusion There is no association of rs198388 and rs198389 polymorphism of NPPB gene with CHF in Xinjiang region of China.

关 键 词：慢性心力衰竭 基因突变 NPPB基因 单核苷酸多态性 

分 类 号：R541.6[医药卫生—心血管疾病]