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

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 factorGATA4 may play an important role in cardiogenesis.