Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours

Eur J Hum Genet. 2000 Jul;8(7):540-4. doi: 10.1038/sj.ejhg.5200486.

Abstract

The promoter region of the human GSTP1 gene contains a polymorphic short tandem repeat (STR) locus consisting of pentanucleotide repeat units (ATAAA). In this work we report the existence of a total of 26 alleles in a Caucasian population. While differences in size (ranging from one to five base pairs) were responsible for the major variation, in five size-defined classes, two alternative sequences were found. Automatic fragment sizing and sequencing analysis revealed that this polymorphism is of a highly complex nature in contrast with previous reports. A genetic population study was carried out on a random sample from Portugal showing no deviation from Hardy-Weinberg equilibrium. Somatic instability studies were also performed on gastric and thyroid tumours using this STR: no instability was detected in thyroid tumour tissues when compared with their normal counterpart but in gastric tumour tissues microsatellite instability (MSI) was detected in 9.6% of the cases and loss of heterozygosity (LOH) also in 9.6% of the cases studied. The results obtained with GSTP1 in gastric cancer were compared with previously reported data on MSI using BAT-26 and several dinucleotide repeat markers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • Gene Frequency
  • Genetic Markers
  • Genotype
  • Glutathione S-Transferase pi
  • Glutathione Transferase / genetics*
  • Humans
  • Isoenzymes / genetics*
  • Loss of Heterozygosity
  • Minisatellite Repeats*
  • Mutation*
  • Oligonucleotides / chemistry*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Stomach Neoplasms / enzymology*
  • Thyroid Neoplasms / enzymology*

Substances

  • DNA Primers
  • Genetic Markers
  • Isoenzymes
  • Oligonucleotides
  • GSTP1 protein, human
  • Glutathione S-Transferase pi
  • Glutathione Transferase