The GATA-4Mutations Identified In Children With Congenital Cardiac Septal Defects

Congenital cardiac septal defects is an inborn abnormality seriously harming infants’health.As a complex disease, Congenital cardiac septal defects is due to the embryo’s abnormal development that results from the interaction of genetic factor and environmental agent during the vulnerable period of cardiac development. GATA-4is one of the transcription factors closely related to heart development.Objective We hope to identify the novel genetic determinants and find the potential mechanism of GATA-4gene causing the congenital cardiac septal in children.Methods The clinical data and peripheral venous blood samples from100unrelate individuals with congenital cardiac septal defects were collected and evaluated. Use TIANamp blood DNA kit to extract DNA. The complete coding exons and the partial flanking introns of GATA-4gene were amplified by polymerase chain reaction and sequenced by di-deoxynucleotide chain termination. The generated sequences were aligned with those retrieved from GenBank with the aid of programme BLAST to identify the sequence variations.Results No mutations were detected in7exons of GATA-4gene in all100children with congenital cardiac septal defects by PCR.Conclusion Mutations in coding region of GATA-4gene were not found in our selected congenital cardiac septal defects samples. Congenital cardiac septal defect is a multifactorial, polygenic diseases, the pathogeny is more complex, We need further research whether the existing chain interaction with other genes resulting in congenital cardiac septaldefects occcur. The interaction of genetic factor and environmental agent is very important in the pathogenesis of congenital cardiac septal defects.