Tang Zhao-hui, Xia Li, Chang Wei, Li Hua, Shen Fang, Liu Jing-yu, Wang Qing, Liu Mu-gen
Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr;23(2):134-7.
To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).
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.
Two novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified.
The above identified two novel GATA4 mutations associated with CHD in Chinese patients. This suggests that the transcription factor GATA4 may play an important role in cardiogenesis.
鉴定中国散发性先天性心脏病（CHD）患者GATA4基因的突变情况。
对31例CHD患者的GATA4基因全部6个外显子及外显子-内含子边界进行单链构象多态性（SSCP）分析以筛选突变，采用直接DNA测序鉴定具体突变。
鉴定出两个新的错义突变，分别为外显子4中的V267M、外显子6中的V380M，以及GATA4基因内含子6中的一个多态性位点。
上述鉴定出的两个新的GATA4突变与中国CHD患者相关。这表明转录因子GATA4可能在心脏发生过程中起重要作用。
