中国南方单纯性先天性心脏病患者NKX2.5基因突变的研究  

Study on mutations of NKX2.5 gene in southern Chinese patients with non-syndromic congenital heart diseases

作　　者：李倩[1] 熊符[2] 李承彬 

机构地区：[1]华中科技大学同济医学院附属荆州中心医院检验医学部,湖北荆州434020 [2]南方医科大学基础医学院遗传学教研室,广东广州510515

出　　处：《中国优生与遗传杂志》2017年第9期85-87,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的对中国南方地区单纯性先天性心脏病患者进行NKX2.5基因胚系突变的筛查,探讨其在单纯性先天性心脏病发生中的作用及基因型与表型的关系。方法应用聚合酶链反应(PCR)结合DNA测序技术,对我国南方地区224例单纯性先心病患者和121例健康个体进行NKX2.5基因(包括基因的编码区,5′和3′非翻译区以及外显子与内含子的连接区域)进行突变分析。结果 NKX2.5基因中未检测到致病突变,仅发现三种已报道的SNPs:rs2277963(c.63A>G,GAA>GAG,p.Glu21Glu),rs3729753(c.606G>C,CTG>CTC p.Leu202Leu)和rs703752(c.975-61 G>T),基因型频率及等位基因频率与NCBI数据库中已报道的中国人群携带率无显著性差异。结论中国南方地区单纯性先心病患者中NKX2.5基因致病突变极少发生,其致病突变的发现可能限于某些家系或者有特殊表型的先心病患者中。NKX2.5基因在我国南方地区单纯性先天性心脏病中的致病作用有待进一步研究。Objective：To screen the germ-line mutations of NKX2.5 gene among patients with non-syndromic congenital heart disease（CHD）and provide new insight into the molecular etiology responsible for CHD and explore the correlation between genotypes and phenotypes in southern China. Methods：The samples were collected from southern China. Human genomic DNA of 224 patients with non-syndromic CHD and 121 normal individuals were subjected to screen germ-line mutations of NKX2.5 gene by polymerase chain reaction（PCR）and DNA sequencing. Results：There no pathogenic mutations were found in NKX2.5 gene among the patients. Just three known single nucleotide polymorphisms（SNPs）were detected：rs2277963（c.63A〉G,GAA〉GAG,p.Glu21Glu）,rs3729753（c.606G〉C,CTG〉CTC p.Leu202Leu）and rs703752（c.975-61 G〉T）. Both rs2277963 and rs3729753 were synonymous mutations. There were no differences between two groups of their alleles and genotypes frequencies. Conclusions：None pathogenic mutations were identified among the patients,which suggested that NKX2.5 gene mutations are relatively rare among non-syndromic CHD patients in southern China. Therefore,the diagnostic importance of NKX2.5 gene mutations may be confined to familial cases or specific subgroups of CHD phenotypes.

关 键 词：单纯性先天性心脏病 NKX2.5基因 DNA测序 基因突变 

分 类 号：R440[医药卫生—诊断学] R541.1[医药卫生—临床医学]