Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects  

作　　者：Mehri KHATAMI Sajedeh GHORBANI Mojgan Rezaii ADRIANI Sahar BAHALOO Mehri Azami NAEINI Mohammad Mehdi HEIDARI Mehdi HADADZADEH 

机构地区：[1]Department of Biology,Faculty of Science,Yazd University,Yazd 8915818411,Iran [2]Department of Cardiac Surgery,Afshar Hospital,Shahid Sadoughi University of Medical Sciences,Yazd 8915887856,Iran

出　　处：《Current Medical Science》2022年第1期129-143,共15页当代医学科学（英文）

摘　　要：Objective:Transcription factor GATA4 has significant roles in embryonic heart development.Mutations of GATA4 appear to be responsible for a wide variety of congenital heart defects(CHD).Despite the high prevalence of GATA4 mutations in CHD phenotypes,extensive studies have not been performed.The 3'-untranslated region(3'-UTR)of tho GATA4 gene comprises regulatory motifs and microRNA binding sites that are critical for the appropriate gene expression,nuclear transportation,and regulation of translation,and stability of mRNA.This study aimed to evaluate the association between mutations in the 3'-UTR of the GATA4 gene and CHD risk among Iranian patients.

关 键 词：congenital heart disease GATA4 S'-untranslated region mutation in-silico analysis 

分 类 号：R54[医药卫生—心血管疾病]