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- Title
Two novel polymorphisms in the human transforming growth factor beta 2 gene.
- Authors
Alansari, A; Hajeer, A H; Bayat, A; Eyre, S; Carthy, D; Ollier, W E R
- 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 I 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. Genes and Immunity (2001) 2, 295-296.
- Subjects
GENETIC polymorphisms; TRANSFORMING growth factors-beta; GROWTH factors
- Publication
Genes & Immunity, 2001, Vol 2, Issue 5, p295
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/sj.gene.6363780