Linkage analysis of the hph-1 mutation and the GTP cyclohydrolase I structural gene

Mol Genet Metab. 1999 Sep;68(1):91-2. doi: 10.1006/mgme.1999.2887.

Abstract

Our research establishes genetic linkage between the hph-1 mutation and the GTP-CH I structural gene. Our results indicate that these two loci are within an 8 cM region with 95% confidence. This finding lends additional support for the use of the hph-1 mouse mutant as a bona fide model system for the human disorder GTP-CH I to further our understanding of the molecular mechanisms involved in the disease pathology of GTP-CH I deficiency.

MeSH terms

  • Alleles
  • Animals
  • Crosses, Genetic
  • Female
  • GTP Cyclohydrolase / deficiency
  • GTP Cyclohydrolase / genetics*
  • Genes / genetics
  • Genetic Linkage*
  • Genotype
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred CBA
  • Mice, Mutant Strains
  • Mutation

Substances

  • GTP Cyclohydrolase