Two novel polymorphisms in the human transforming growth factor beta 2 gene

Abstract

We have identified two novel polymorphisms in the transforming growth factor beta 2 (TGFβ2) gene; an insertion in the 5′-untranslated region (5′UTR) and a single nucleotide polymorphism (SNP) in exon 1. A 895-bp fragment was analysed covering part of the 5′UTR and exon 1. Single-strand conformation polymorphism (SSCP) analysis of polymerase chain reaction (PCR) products was performed to detect sequence variations. This was followed by the sequencing of samples demonstrating distinct banding patterns. A 4-bp insertion (ACAA) in the 5′UTR and a SNP (G > A) within exon 1 was identified. The 5′UTR polymorphism was found to be common in three Caucasian populations from Spain, Turkey and the UK. Exon 1 polymorphism is rare and results in an R to H amino acid substitution in codon 91. Both polymorphisms may prove useful for investigating possible associations of TGFβ2 with disease.