The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
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.
Rootwelt
H
H
Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, Norway.
Kvittingen
E A
EA
Høie
K
K
Agsteribbe
E
E
Hartog
M
M
van Faassen
H
H
Berger
R
R
D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D006867:Hydrolases / Q000172:deficiency* / Q000235:genetics; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase