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Updated: Oct 4, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Two novel polymorphisms in the human transforming growth factor beta 2 gene
A Alansari1, A H Hajeer, A Bayat
1ARC Epidemiology Unit, Manchester University Medical School, Oxford Road, Manchester M13 9PT, UK.
Abstract:
We have identified two novel polymorphisms in the transforming growth factor beta 2 (TGFbeta2) 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 TGFbeta2 with disease.
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