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

A. Alansari, A. H. Hajeer, A. Bayat, S. Eyre, D. Carthy, W. E R Ollier

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)295-296
Number of pages2
JournalGenes and Immunity
Volume2
Issue number5
DOIs
Publication statusPublished - Aug 2001

Keywords

  • 5′UTR
  • Insertion
  • Polymorphism
  • TGFβ2

ASJC Scopus subject areas

  • Genetics
  • Immunology
  • Genetics(clinical)

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  • Cite this

    Alansari, A., Hajeer, A. H., Bayat, A., Eyre, S., Carthy, D., & Ollier, W. E. R. (2001). Two novel polymorphisms in the human transforming growth factor beta 2 gene. Genes and Immunity, 2(5), 295-296. https://doi.org/10.1038/sj.gene.6363780