Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
Hum Mol Genet
; 3(1): 69-72, 1994 Jan.
Article
en En
| MEDLINE
| ID: mdl-8162054
ABSTRACT
Hereditary tyrosinemia type I is a metabolic disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH, EC 3.7.1.2), the last enzyme in the catabolic pathway of tyrosine. The molecular basis of FAH deficiency was examined in five Finnish patients suffering from this severe metabolic disease. No immunoreactive FAH nor enzymatic activity were found in their liver. Direct sequencing of the 14 exons of the FAH gene showed a G to A transition, which predicts a change from tryptophan to a stop codon (TGG-->TGA) at position 262 (W262X). Four of the five patients examined were homozygous for the mutation. Allele specific oligonucleotide hybridization showed a predominance of the W262X mutation in Finland (9 of 10 alleles) and the absence of this mutant allele in patients from other parts of the world. The loss of a BsaJI restriction site in those patients may be used for diagnosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tirosina
/
Mutación Puntual
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Hidrolasas
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Infant
País/Región como asunto:
Europa
Idioma:
En
Revista:
Hum Mol Genet
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Año:
1994
Tipo del documento:
Article
País de afiliación:
Canadá