| Autor: |
Agsteribbe, E, van Faassen, H, Reversma, T, Taanman, J W, Pannekoek, H, Verweij, C L, Berger, R |
| Zdroj: |
Pediatric Research; August 1987, Vol. 22 Issue: 2 p237-237, 1p |
| Abstrakt: |
Patients suffering from type I hereditary tyrosinemia exhibit a profound deficiency of fumarylacetoacetase activity in liver, kidney and white blood cells. We have shown previously by the use of antibodies raised against fumarylacetoacetase from beef-liver that cross-reacting material is absent in cells and tissues from patients. In order to characterize the mutations causing type I hereditary tyrosinemia we set out to screen a human cDNA library from liver with antibodies against the beef-enzyme. Four unique clones encoding peptides cross-reacting with the antibodies have been identified. It was shown by cross-hybridization that these clones overlapped with each other. All four cloned fragments were complementary to the same region of human chromosomal DNA. The total length of cDNA encompassed by the four fragments is appr.1800 base pairs. We will present the nucleotide sequence of this DNA and the results of investigations on the expression of the normal vs the mutant gene. |
| Databáze: |
Supplemental Index |
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