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

Mol Cell Probes. 2000 Aug;14(4):265-8. doi: 10.1006/mcpr.2000.0315.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Czech Republic
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • European Continental Ancestry Group / genetics
  • Female
  • Gene Frequency
  • Genetics, Population*
  • Humans
  • Male
  • Middle Aged
  • Nucleic Acid Heteroduplexes
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • Tissue Inhibitor of Metalloproteinase-1 / genetics
  • Tissue Inhibitor of Metalloproteinase-2 / genetics
  • Tissue Inhibitor of Metalloproteinase-3 / genetics*

Substances

  • Nucleic Acid Heteroduplexes
  • Tissue Inhibitor of Metalloproteinase-1
  • Tissue Inhibitor of Metalloproteinase-3
  • Tissue Inhibitor of Metalloproteinase-2
  • endodeoxyribonuclease AluI
  • Deoxyribonucleases, Type II Site-Specific