BMPR2 Gene Mutations In Children With Pulmonary Arterial Hypertension Associated With Small Defect In Congenial Heart Disease

Objective:Observe the relationship between BMPR2 gene mutations and congenital heart disease and pulmonary hypertention with different defect sizes.Methods:Econs 1-13 of BMPR2 gene were sequenced using DNA samples from fifty patients with CHD-PAH from No.7 Operating room of Wu Han Union Hospital from March to October in 2014.Dividing all the patients into teo groups according to the diagnosis of echocardiography,one in small defect group,the other is large defect group.Using DNASTAR.Lasergene.v.7.1 software to analyzed the peak charts of sequencing.The results were compared with the sequencing of BMPR2 gene in Human Gene Bank.Predicting protein tertiary structure encoded by mutated BMPR2 gene at Swiss-modeling wedsite.Results: One patient who was diagnosed complex CHD with severe PAH carried novel heterozygous substitution mutations G 1317 T?G 1318 A,in exon 10 of BMPR2.These mutations will lead to spatial structure changes in protein which encoded by BMPR2 gene.Five patients carry a single nucleotide polymorphism in exon 12.Conclusion: BMPR2 gene mutation may be the pathogenesis of CHD-PAH with small defects.