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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 investigate the relationship between chronic heart failure and NPPB gene mutation in Xinjiang region. Methods One hundred and seventy-two patients diagnosed as chronic heart failure in the First People’s Hospital of Aksu Prefecture of Xinjiang Autonomous Region were selected as the observation group, which were divided into observation group W sub-group (Uygur heart failure patients) 91 cases, observation group H subgroup Han heart failure patients) 81 cases. Another 200 healthy volunteers at the same period were selected as the control group, which were divided into control group W subgroup (Uygur healthy volunteers) 100 cases; control group H subgroup (Han healthy volunteers) 100 cases. The peripheral blood DNA was extracted from four groups of subjects. Three exons of NPPB gene were amplified by PCR, and the target gene was sequenced. The results were compared with NPPB in Pub Med Blast software to analyze the mutation sites of NPPB gene Relationship between Uygur and Han heart failure patients. Results The NPPB gene polymorphisms rs198388 and rs198389 were all group representative. The rs198388 and rs198389 in the observation group W subgroup, the observation group H subgroup, the control subgroup W subgroup and the control subgroup H subgroup, Distribution or allele frequency differences were not statistically significant (P> 0.05). There were no significant differences in BNP levels among the four genotypes (all P> 0.05). Conclusion NPPB rs198388 and rs198389 polymorphisms do not correlate with patients with chronic heart failure in Xinjiang of China.