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.
Original language | English |
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Pages (from-to) | 229-233 |
Number of pages | 5 |
Journal | HUMAN GENETICS |
Volume | 89 |
Issue number | 2 |
Publication status | Published - May-1992 |
Keywords
- HEREDITARY TYROSINEMIA
- DEFICIENCY