The Genotype and Expression of TGFβ2 Gene in Children with Congenital Conotruncal Defects
作者单位：Cardiac CenterChildren's Hospital of Fudan University Key Laboratory of Molecular MedicineMinistry of EducationDepartment of Biochemistry and Molecular BiologyInstitute of Medical SciencesShanghai Medical CollegeFudan University
会议名称：《第十二次全国医学遗传学学术会议》
会议日期：2013年
学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学]
关 键 词：TGFβ2 gene mutation gene expression conotruncal defects
摘 要：Objectives:Animal studies have shown that knockout of the transforming growth factor beta 2(TGFP2) gene results in diverse cardiovascular malformations and its dysregulated expression is involved in the pathogenesis of heart ***,little information is available on the genetic and expression alternations of TGFP2 gene in children with congenital heart disease. Herein,we investigated the genotype and expression of TGFP2 gene in children with congenital conotruncal defects(CTD).Methods:We sequenced the whole coding region of TGFP2 gene in 400 children with *** further analyzed the mRNA and protein expression of the TGFP2 gene in the myocardial tissues in 37 children with CTD and 5 age-matched healthy children with real-time PCR and ***:DNA sequencing showed no pathogenic mutations in the coding region of TGFp2 gene except for a silent mutation(1250TC) in the exon 4 in one *** were no significant differences for the TGFP2 expression at either mRNA or protein level in the myocardial tissues between children with CTD and children without heart ***:The results indicate that germline mutation of the TGFp2 gene is not a common cause of CTD in human and the TGFP2 expression level may be less critical in humans than in animals for the pathogenesis of CTD.