Pustaka Ilmiah Universitas Padjadjaran

Abstrak

NKX2.5, GATA4 and TBX1 gene mutations on Tetralogy Fallot

Tetralogy fallot is a congenital cyanotic heart disease most often found. The anatomical changes are ventricular septal defect, overriding aorta, pulmonal stenosis and right ventricle hypertrophy. The etiology is related to environment, gene and the interaction between. This research aimed the role of NKX2.5 in Tetralogy of Fallot. Research subjects were Tetralogy of Fallot patient without another congenital heart disease that match the inclusion criteria. This was an epidemiological genetic research. Number of sample was counted by prevalence. Detection of mutant NKX2.5, GATA4 and TBX1.5 gene was done by sequencing the DNA isolate. NKX2.5 gene mutation was found, it was single nucleotid polymorphism. All the mutation harbored in the exon 2, there were 3 points, c 608A>G (pPro266Thr), c796C>A (pPro266Thr) and c797C>A (pPro266His). Allele frequency in the mutation almost the same in all three mutation which are 41208 and 51208, while in the control group, this allele frequency quite high 41208 vs 1186, 51208 vs 11122 and 51208 vs 11122. GATA4 and TBXI gene mutation were not found. We found that there were quite high alle frequency NKX2.5 in ekson 2 mutation in control group at c796C>A (pPro266Thr) and c797C>A (pPro266His). From the data above we can conclude that c796C>A (pPro266Thr) and c797C>A (pPro266His) mutation is predesposing factor in Tetralogy of Fallot control group in the next generation. [MKB. 2010;42(4S):37S].