摘要
目的探讨转录因子ZIC3基因突变与苏南地区散发性先天性心脏病(CHD)患儿的相关性,为临床诊断和治疗奠定基础。方法纳入192例散发性CHD患儿为观察组,并入选190例健康人群作为对照组,采用病例对照研究方法,用脱氧核糖核酸聚合酶链反应(PCR-DNA)测序技术对CHD患儿外周血中ZIC3基因的外显子及其侧翼序列进行分析。结果在观察组中发现一个错义突变c.1341A>G,未发现同义突变或重复缺失,在对照组中未发现错义突变、同义突变或重复缺失。结论ZIC3是一个高度保守的基因,其编码区未发现与CHD患儿相关的突变。
Objective To explore the correlation between transcription factor ZIC3 gene mutation and children with sporadic congenital heart diseases in southern regions of Jiangsu,lay the foundation for clinical diagnosis and treatment. Methods A total of 192 children with sporadic congenital heart diseases were selected as observation group,and 190 healthy children were selected as control group. A case-control study was performed. PCR-DNA sequencing technology was used to analyze ZIC3 gene exons and flanking sequences in peripheral blood of children with sporadic congenital heart diseases. Results In observation group,a missense mutation c. 1341 AG was found,no synonymous mutation or repeated deletion was found. In control group, no missense mutation, synonymous mutation or repeated deletion was found. Conclusion ZIC3 is a highly conserved gene,no congenital heart diseases-related mutation was found in the coding region.
作者
刘英华
解敏
刘敏娟
杨祖铭
王三南
毛君
LIU Ying-Hua;XIE Min;LIU Min-Juan(Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu 215002, China)
出处
《中国妇幼保健》
CAS
2018年第12期2753-2755,共3页
Maternal and Child Health Care of China
基金
苏州市产业技术创新专项(应用基础研究.医疗卫生)资助项目(SYS201568)
