J 2002

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

BERÁNEK, Michal, Svatava TSCHÖPLOVÁ, Kateřina KAŇKOVÁ, Viera KUHROVÁ, Jiří VÁCHA et. al.

Basic information

Original name

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

Authors

BERÁNEK, Michal (203 Czech Republic, guarantor), Svatava TSCHÖPLOVÁ (203 Czech Republic), Kateřina KAŇKOVÁ (203 Czech Republic), Viera KUHROVÁ (203 Czech Republic) and Jiří VÁCHA (203 Czech Republic)

Edition

Human Immunology, USA, ELSEVIER SCIENCE INC, 2002, 0198-8859

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 2.573

RIV identification code

RIV/00216224:14110/02:00006679

Organization unit

Faculty of Medicine

UT WoS

000181137600008

Keywords in English

bFGF; genetic polymorphism; linkage disequilibrium
Změněno: 24/6/2009 15:25, prof. MUDr. Kateřina Kaňková, Ph.D.

Abstract

V originále

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.

Links

MSM 141100002, plan (intention)
Name: Molekulární patofyziologie multigenních chorob
Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases