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Genetic variation in the promoter region of the basic Fibroblast Growth Factor gene (bFGF)

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BERÁNEK Michal TSCHÖPLOVÁ Svatava KAŇKOVÁ Kateřina KUHROVÁ Viera VÁCHA Jiří

Rok publikování 2002
Druh Článek v odborném periodiku
Časopis / Zdroj Human Immunology
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Obor Genetika a molekulární biologie
Klíčová slova bFGF; genetic polymorphism; linkage disequilibrium
Popis 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.
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