Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients

VernacularTitle:汉族先天性房室间隔畸形患者GATA-4基因的突变分析
Author: Ming-Wu CHEN ¹ ; Yu-Sheng PANG ; Ying GUO ; Bing-Li LIU ; Jie SHEN ; Huai-Dong SONG ; Tang-Wei LIU
Author Information

1. 广西医科大学附属第一医院
Keywords: Heart defects,congenital; Mutation; Transcription factors
From: Chinese Journal of Cardiology 2009;37(5):409-412
CountryChina
Language:Chinese
Abstract: Objective To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients. Methods Fifty Han Chinese patients with congenital cardiac septal defects and 100 normal subjects with the same ethnical background were studied. Total six exons and the intron-exon boundaries of GATA-4 were amplified by the polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced with automatic sequencer. Results Two novel heterozygoas mutations were discovered in the GATA-4 gene of patients with congenital cardiac septal defects, His28Tyr in exon 2 and His436Tyr in exon 7 respectively, which were absent in the control population and not reported in the SNP database(http ://www. ncbi. nlm. nih. gov/SNP). Conclusion Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septai defects in Han Chinese patients.