title: Identification of novel common polymorphisms in the promoter region of the TIMP-3 gene in Czech population.
abstract: We investigated possible polymorphisms in the promoter regions of the TIMP-1, 2 and 3 genes (tissue inhibitor of metalloproteinases) to establish their frequencies in the Caucasian population. Polymorphisms were analysed by means of heteroduplex analysis and fragments with altered mobility were sequenced. No polymorphisms were found in the promoters for TIMP-1 and 2 but three novel polymorphisms (-899T/A, -915A/G and -1296T/C) were identified in the promoter region of the TIMP-3. Allele frequencies in a sample of healthy Caucasian subjects (n=95) were determined by PCR followed by restriction analyses with specific endonucleases. Allele frequencies of the -899A, -915G and -1296C polymorphisms were 0.05, 0.39 and 0. 40, respectively. We conclude that the -915A/G and -1296T/C variants of the TIMP-3 gene appear to be common polymorphisms in the Caucasian Czech population.
authors.affiliation: Department of Pathophysiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic. beranek@sci.muni.cz
authors.forename: M
authors.initials: M
authors.lastname: Beránek
authors.forename: K
authors.initials: K
authors.lastname: Kanková
authors.forename: J
authors.initials: J
authors.lastname: Muzík
mesh_terms: D000368:Aged; D018153:Czech Republic; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009692:Nucleic Acid Heteroduplexes; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D019715:Tissue Inhibitor of Metalloproteinase-1 / Q000235:genetics; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics; D019717:Tissue Inhibitor of Metalloproteinase-3 / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D009692:Nucleic Acid Heteroduplexes; D019715:Tissue Inhibitor of Metalloproteinase-1; D019717:Tissue Inhibitor of Metalloproteinase-3; D019716:Tissue Inhibitor of Metalloproteinase-2; C024669:endodeoxyribonuclease AluI; D015252:Deoxyribonucleases, Type II Site-Specific