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目的探讨NKX 2.5基因突变与广西壮族人群先天性心脏病（CHD）房间隔缺损的关系。方法应用聚合酶链反应(PCR)及DNA测序技术，对30例广西壮族CHD房间隔缺损患者（CHD组）以及30例非CHD患者（对照组）的NKX 2.5基因的全部外显子和侧翼序列进行突变检测，并对单核苷酸多态性位点进行基因分型，分析单个位点的基因型、等位基因频率与CHD房间隔缺损的关系。结果所有CHD房间隔缺损患者NKX 2.5基因均未发现突变，而在基因第二外显子区域发现1个SNP位点，位于上游606位碱基c.606G＞C，属于同义突变。两组基因型频率、等位基因频率比较，差异无统计学意义（P＞0.05）。结论NKX 2.5基因突变与广西壮族CHD房间隔缺损患者之间无明显相关性，该基因上的606G＞C的SNP与先天性心脏病房间隔缺损之间无明显相关性。
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更新时间：2018-08-07
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NKX 2.5 基因突变与广西壮族人群先天性房间隔缺损的关系研究▲
Association between NKX2.5 gene mutation and congenital atrial septal defect in Zhuang people of Guangxi Province
微创医学 201813卷04期 页码：417-419
作者机构：广西医科大学第一附属医院心胸外科，南宁市530021
基金信息：▲基金项目：广西自然科学基金（编号：2016GXNSFAA380256）
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ObjectiveTo investigate the relationship between NKX2.5 gene mutation and atrial septal defect (ASD) in the Zhuang people with congenital heart disease(CHD) of the Guangxi Zhuang Autonomous Region. MethodsPolymerase chain reaction and DNA sequencing were used to detect all exons and flanking sequences of NKX2.5 gene in 30 Zhuang people with CHD-ASD from Guangxi(CHD group) and 30 subjects without CHD (control group). Genotyping of single nucleotide polymorphism (SNP) loci was performed. The association of genotypes and alleles of single locus with CHD-ASD were analyzed. ResultsNo mutation of NKX2.5 gene was found in any patients with CHD-ASD. But a SNP locus belonging to synonymous mutation was found in the second exon of the gene and was located at the upstream 606 base c.606G＞C.There were no significant differences in genotype frequency and allele frequency between the two groups（P＞0.05）. ConclusionThe mutation of the NKX2.5 gene is not related to CHD-ASD in the Zhuang people of Guangxi. No obvious relation is found between 606G＞C SNP of the gene and CHD-ASD.
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