Identification of novel common polymorphisms in the promoter region of theTIMP-3 gene in Czech population

We investigated possible polymorphisms in the promoter regions of the TIMP- 1, 2 and 3 genes (tissue inhibitor of metalloproteinases) to establish thei r frequencies in the Caucasian population. Polymorphisms were analysed by m eans of heteroduplex analysis and fragments with altered mobility were sequ enced. No polymorphisms were found in the promoters for TIMP-1 and 2 but three nov el 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 Ca ucasian subjects (n = 95) were determined by PCR followed by restriction an alyses with specific endonucleases. Allele frequencies of the - 899A, - 915 G and - 1296C polymorphisms were 0.05, 0.39 and 0.40, respectively. We conc lude that the - 915A/G and - 1296T/C variants of the TIMP-3 gene appear to be common polymorphisms in the Caucasian Czech population. (C) 2000 Academi c Press.