DNA sequencing of TGFβ2 in sporadic patients with tetralogy of Fallot.
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ABSTRACT: Transforming growth factor β2 (TGFβ2) plays an essential role in cardiac morphogenesis. However, the prevalence of TGFβ2 mutations in congenital heart disease (CHAD) and the correlation between the TGFβ2 genotype and the CHAD phenotype have not been studied extensively. The aim of this study was to examine DNA sequence changes in the TGFβ2 gene in sporadic patients with tetralogy of Fallot (TOF), and to observe whether TGFβ2 is the susceptibility gene for TOF. A cohort of 100 pediatric patients with TOF was recruited to the study; 200 healthy children were used as controls. PCR and genotyping were conducted for the detection of DNA changes in TGFβ2. The exons and the 5' untranslated region (5'UTR) sequences of the TGFβ2 gene were amplified. No mutations were identified in the coding region
SUBMITTER: Gao Y
PROVIDER: S-EPMC3438627 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
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