Identification of an intronic TG repeat polymorphism in the human proteasome core particle PROS-27K gene

DNA Seq. 2002 Jun;13(3):139-43. doi: 10.1080/10425170290012655.

Abstract

A TG dinucleotide repeat was identified in intron 6 of the human proteasome core particle PROS-27K (IOTA, PSMA6) gene. We present data on the length polymorphism of this repeat in 120 individuals from Latvia and 197 individuals from Finland. A combination of PCR and fluorescent gel electrophoresis was utilized to type the polymorphism. Twelve alleles were observed, varying in length from 10 to 23 TG repeats. Similar allele frequencies were observed in Latvian and Finnish subjects, with 17 and 20 repeats being the most frequent in both populations. We suggest that this TG dinucleotide repeat could be utilized as a prospective marker for genetic linkage and association studies of common diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cysteine Endopeptidases / genetics*
  • Dinucleotide Repeats*
  • Heterozygote
  • Humans
  • Introns
  • Multienzyme Complexes / genetics*
  • Polymorphism, Genetic*
  • Proteasome Endopeptidase Complex
  • Sequence Analysis, DNA

Substances

  • Multienzyme Complexes
  • Cysteine Endopeptidases
  • PSMA6 protein, human
  • Proteasome Endopeptidase Complex