Research of the relatıon between ROCK2 (RHO/RHO--kınase) gene polımorfısm and the ızole ventrıcular septal defects on the chıldhood

Ventriküler Septal Defect (VSD) is a defect located on septum which seperate right and left ventricule. VSD may be more than one. VSD is the most frequent congenital heart anomaly after than bicuspid aortic valve and mitral valve prolapses but VSD?s ethiopathogenesis is unclear. It was shown that ROCK2/Rho-kinase has role on cell movement, migration and contraction. One of perimembranose outlet VSD forming theory is extramesencimal tissue migration anomaly. This study aimed to show the relationship between ROCK-2 gene polymorphisim and isolated VSD. Also this study is the first gene based VSD study at literature.This study included diagnosed isolated VSD patient (n=150) and healthy individuals (n=150) who were applicated to Gaziantep Universty Medical Faculty Hospital Pediatric Cardiology Deparment. DNA isolation was made from patients and volunteer?s blood samples. To show SNP Exon 16 and 26 region by PCR method, Exon 10 region by Real Time PCR method.For Thr431Asn polymorphisim on Exon 10 region ROCK2 Gene Thr-Thr, Thr-Asn, Asn-Asn genotype frequens and Thr ?Asn allels frequencies; for Asp601Val polymorphisim on Exon 16 region Asp-Asp, Asp-Val, Val-Val genotype frequens and Asp-Val allels frequencies; for Lys1083Met polymorphisim on Exon 26 region Lys-Lys, Lys-Met, Met-Met genotype frequens and Met-Lys allels frequencies were studied. There were no statistical meaningfull difference between control group and patient group?s genotype frequens and allels frequencies.(P>0.05)Finally midunmeaningfull relation was shown between isolated VSD and Thr431Asn polymorphisiym on ROCK2 gene (p=0.056). More detailed study is needed to show this relation.