汉族先天性心脏病患儿中NKX2.5基因的分析  

Analysis of amplifying exons of Nkx2.5 gene in Han children with congenital heart disease

作　　者：张永生[1] 顾海涛[1] 顾群[1] 陆凤霞[1] 王怡悦[1] 周洁[1] 张斯壁[1] 

机构地区：[1]江苏省人民医院妇幼分院小儿心胸外科,南京210012

出　　处：《齐齐哈尔医学院学报》2012年第24期3331-3332,共2页Journal of Qiqihar Medical University

摘　　要：目的初步研究转录因子Nkx2.5的基因突变与汉族先天性心脏病发生之间的关系,为先心病患儿的预防和治疗提供依据。方法收集55例散发型先天性心脏病患儿及55名正常人的外周静脉血,采用聚合酶链反应结合DNA测序技术,对Nkx2.5基因的外显子进行序列检测,分析Nkx2.5基因突变是否与中国先天性心脏病的发生有关。结果 55例患者中未检测出核苷酸突变。55名正常人也未检测出基因突变。结论 Nkx2.5基因突变与中国先天性心脏病的发生之间相关性可能是间接的。Objective To explore the association between gene mutation of transcription factor Nkx.5 and Han population with congenital heart disease（CHD）.We need to explore the way to diagnosis and therapy of congenital cardiopathy.Methods We collected blood samples of 55 patients with sporadic congenital heart disease and 55 healthy individuals.Polymerase chain reaction（PCR） and DNA sequencing were used to amplifying exons of Nkx2.5 gene,in order to investigate whether or not the Nkx2.5 was related with CHD in Chinese population.Results Among 55 patients,no mutation were identified in exon of Nkx2.5.No mutation was found in 55 healthy individuals.Conclusions There is not direct association between Nkx2.5 gene mutation and occurrence of congenital heart disease in Chinese people.

关 键 词：先天性心脏病 汉族 Nkx2 5 基因 单核苷酸多态性 

分 类 号：R541.1[医药卫生—心血管疾病]