title: 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 (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.
authors.affiliation: ARC Epidemiology Unit, Manchester University Medical School, Oxford Road, Manchester M13 9PT, UK.
authors.forename: A
authors.initials: A
authors.lastname: Alansari
authors.forename: A H
authors.initials: AH
authors.lastname: Hajeer
authors.forename: A
authors.initials: A
authors.lastname: Bayat
authors.forename: S
authors.initials: S
authors.lastname: Eyre
authors.forename: D
authors.initials: D
authors.lastname: Carthy
authors.forename: W E
authors.initials: WE
authors.lastname: Ollier
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D013030:Spain; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053781:Transforming Growth Factor beta2; D014421:Turkey; D006113:United Kingdom; D044465:White People / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; C509041:TGFB2 protein, human; D016212:Transforming Growth Factor beta; D053781:Transforming Growth Factor beta2