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

• Published in: Genes and immunity Vol. 2; no. 5; pp. 295 - 296
• Main Authors: Alansari, A, Hajeer, A H, Bayat, A, Eyre, S, Carthy, D, Ollier, W E
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-08-2001
• Subjects: 5' Untranslated Regions; 5' Untranslated Regions - genetics; Amino acid substitution; Conformation; Epidemiology; European Continental Ancestry Group - genetics; Genes; Genetic aspects; Genetic susceptibility; Genotype & phenotype; Growth factors; Health aspects; Humans; Physiological aspects; Polymerase chain reaction; Polymorphism; Polymorphism, Genetic - genetics; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Spain; TGF^b gene; Transforming Growth Factor beta - genetics; Transforming Growth Factor beta2; transforming growth factor-b; Transforming growth factor-b1; Transforming growth factors; Turkey; United Kingdom; United Kingdom; United Kingdom > UK; Turkey; Spain
• ISSN: 1466-4879; 1476-5470
• DOI: 10.1038/sj.gene.6363780

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.