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Mutational analysis of the HGO gene in Finnish alkaptonuria patients.

ABSTRACT: Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been characterised in AKU patients of different ethnic origin. We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. The three novel AKU mutations are most likely specific for the Finnish population and have originated recently.

SUBMITTER: Beltran-Valero de Bernabe D

PROVIDER: S-EPMC1734273 | biostudies-other | 1999 Dec

REPOSITORIES: biostudies-other

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Mutational analysis of the HGO gene in Finnish alkaptonuria patients.

Beltrán-Valero de Bernabé D D Peterson P P Luopajärvi K K Matintalo P P Alho A A Konttinen Y Y Krohn K K Rodríguez de Córdoba S S Ranki A A

Journal of medical genetics 19991201 12

Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been characterised in AKU patients of different ethnic origin. We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. The three novel AKU mutations are most l ...[more]

PMID: 10594001

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