中国人散发性先天性心脏病患者GATA4基因的两个新错义突变(英文)  

Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects

作　　者：唐朝晖[1] 夏利[2] 常伟[1] 李华[2] 沈芳[1] 刘静宇[1] 王擎[1] 刘木根[1] 

机构地区：[1]华中科技大学生命科学与技术学院,人类基因组研究中心,武汉430074 [2]武汉市广州军区武汉总医院特诊科

出　　处：《中华医学遗传学杂志》2006年第2期134-137,共4页Chinese Journal of Medical Genetics

基　　金：国家863计划项目(2002BA711A07) ;国家十五科技攻关项目(2004BA720A02) ;国家自然科学基金(30470982)~~

摘　　要：目的在散发的中国人先天性心脏病(congenital heart defects , CHD)患者中,鉴定GATA4基因突变。方法应用单链构象多态性方法对31例CHD患者进行GATA4基因6个外显子所有编码序列的突变检测,对有异常条带的DNA进行直接测序。结果在31个CHD患者中,我们发现GATA4基因的两个新的错义突变,分别是位于第4外显子的V267M,和位于第6外显子的V380M,以及一个第6内含子中的核苷酸改变。结论我们在患有CHD的中国人群中,发现两个GATA4基因的新突变,提示其编码的转录因子在心脏的发育中具有重要作用。Objective To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects （CHD）. Methods Single stranded conformation polymorphism （SSCP） analysis was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4 in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific mutations. Results Two novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified. Conclusion The above data identified two novel GATA4 mutations associated with CHD in Chinese patients. This suggests that the transcription factor GATA4 may play an important role in eardiogenesis.

关 键 词：先天性心脏病 GATA4基因 突变 转录因子 

分 类 号：R541.1[医药卫生—心血管疾病]