先天性室间隔缺损与NKX2.5基因突变的关系  

Relationship between NKX2.5 gene mutation and congenital ventricular septal defect in Guangxi Zhuang population

作　　者：曲洪鹏 许展毓 冯旭[1] 郑宝石[1] 覃家锦[1] 谢晓勇[1] Qu Hongpeng;Xu Zhanyu;Feng Xu;Zheng Baoshi;Qin Jiajin;Xie Xiaoyong(Department of Cardiothoracic Surgery, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China)

机构地区：[1]广西医科大学第一附属医院心胸外科,南宁530021

出　　处：《中华实验外科杂志》2019年第2期327-329,共3页Chinese Journal of Experimental Surgery

基　　金：广西自然科学基金面上项目 (2016GXNSFAA380256).

摘　　要：目的 探讨NKX2.5同源蛋白(NKX2.5)基因突变与广西壮族人群先天性心脏病室间隔缺损的关系。方法 采用聚合酶链反应(PCR)与DNA检测技术,进行30例室间隔缺损患者(VSD)与30例对照组患者的NKX2.5基因全部外显子和侧翼序列的基因突变对比检测,对单核酸多态位性(SNP)位点进行基因分型,分析单个位点的基因型与等位基因频率与VSD的关系。结果 所有VSD患者NKX2.5基因均未见突变,在NKX2.5基因第二外显子区域发现1个SNP位点,位于上游碱基第606位c.606G>C,属于同义突变,CHD组与对照组之间差异无统计学意义(基因型频率比较,χ2=0.640,P>0.05;等位基因频率比较,χ2=0.034,P>0.05)。结论 NKX2.5基因突变与广西壮族人群VSD无明显相关性。Objective To investigate the relationship between NKX2.5 homologous protein (NKX2.5) gene mutation and ventricular septal defect (VSD) in congenital heart disease in Guangxi Zhuang population.Methods Polymerase chain reaction (PCR) and DNA detection techniques were used to detect the mutations of all exons and flanking sequences of NKX2.5 gene in 30 patients with VSD and 30 control patients. Nucleic acid polymorphism (SNP) sites were genotyped, and the relationship between the genotype and allele frequencies of a single locus with VSD was analyzed.Results No mutations were found in NKX2.5 gene in all VSD patients. A SNP locus was found in the second exon region of NKX2.5 gene, located at the 606th position of the upstream base c. 606G>C, belonging to synonymous mutation, in CHD group. There was no significant difference between the VSD group and the control group (genotype frequency comparison: χ2=0.640, P>0.05;allele frequency comparison: χ2=0.034, P>0.05).Conclusion There is no significant correlation between NKX2.5 gene mutation and VSD in Guangxi Zhuang population.

关 键 词：先天性心脏病 室间隔缺损 NKX2.5基因 

分 类 号：R541.1[医药卫生—心血管疾病]