The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency

Hum Genet. 1992 May;89(2):229-33. doi: 10.1007/BF00217128.

Abstract

Deficiency of human fumarylacetoacetase (FAH) activity results in hereditary tyrosinemia type I. Using the restriction enzymes BglII, KpnI and StuI and a 1.3-kb cDNA probe for the FAH gene, we have found 6 restriction fragment length polymorphisms (RFLPs). These RFLPs were utilised in 3 tyrosinemia families in which one or both parents are carriers of both a tyrosinemia and a pseudodeficiency gene for FAH. Full information was obtained in two of these families. The polymorphisms identified 6 haplotypes. The haplotype distribution was significantly different in 32 unrelated tyrosinemia patients compared with a reference population of 100 individuals. The combined polymorphism information content was 0.77.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Female
  • Gene Frequency / genetics
  • Haplotypes
  • Humans
  • Hydrolases / deficiency*
  • Hydrolases / genetics
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • Tyrosine / blood*

Substances

  • Tyrosine
  • Hydrolases
  • fumarylacetoacetase