Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1169-72. doi: 10.1081/NCN-200027439.

Abstract

Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified 34 mutations in 28 Japanese, 7 Korean, and 1 Indian families with the patients manifesting different clinical phenotypes, including two rare cases in female subjects, by the analysis of all nine exons of HPRT from the genomic DNA and reverse transcribed mRNA using PCR technique coupled with direct sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exons
  • Family Health
  • Female
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency*
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • India
  • Japan
  • Korea
  • Lesch-Nyhan Syndrome / genetics
  • Male
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • RNA, Messenger / metabolism
  • Sequence Analysis, DNA
  • Syndrome

Substances

  • RNA, Messenger
  • Hypoxanthine Phosphoribosyltransferase