title: Genetic variation in the promoter region of the basic fibroblast growth factor gene.
abstract: Basic fibroblast growth factor (bFGF) is a member of the fibroblast growth factor family that possess broad mitogenic and cell survival activities and is involved in a variety of biological processes. We investigated possible genetic polymorphism in the promoter and 5' flanking region of the bFGF gene. Polymorphism was analysed by means of heteroduplex analysis, fragments with altered mobility were sequenced. Three novel substitutions (-553T/A, -834T/A and -921C/G) were identified in the promoter region. Allele frequencies in a sample of healthy Caucasian subjects (n=126) were determined by polymerase chain reactions followed by restriction analyses with specific endonucleases. The frequencies of the mutated alleles (-553A, -834A and -921G) were 0.04, 0.05 and 0.14, respectively. Newly identified variants in the bFGF gene promoter appear to be common polymorphisms in the Czech population.
authors.affiliation: Centre of Biostatistics and Analyses, Brno, Czech Republic. beranek@sci.muni.cz
authors.forename: Michal
authors.initials: M
authors.lastname: Beránek
authors.forename: Svatava
authors.initials: S
authors.lastname: Tschöplová
authors.forename: Katerina
authors.initials: K
authors.lastname: Kanková
authors.forename: Vera
authors.initials: V
authors.lastname: Kuhrová
authors.forename: Jirí
authors.initials: J
authors.lastname: Vácha
mesh_terms: D024506:5' Flanking Region; D000368:Aged; D005260:Female; D016222:Fibroblast Growth Factor 2 / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011401:Promoter Regions, Genetic
chemical_list: D016222:Fibroblast Growth Factor 2