Mutational analysis of the HGO gene in Finnish alkaptonuria patients
- Daniel Beltrán-Valero de Bernabéa,
- Pärt Petersonb,
- Kristiina Luopajärvic,
- Pirjo Matintalod,
- Antti Alhoe,
- Yrjö Konttinenf,
- Kai Krohnb,
- Santiago Rodríguez de Córdobaa,
- Annamari Rankic,f
- aDepartamento de Inmunología, CIB (CSIC), and Unidad de Patología Molecular, Fundación Jiménez Díaz, Madrid, Spain, bInstitute of Medical Technology, University of Tampere, PO Box 607, 33101 Tampere, Finland, cDepartment of Dermatology, University of Tampere and Tampere University Hospital, Tampere, Finland, dTurku Health Centre, Turku, Finland, eOrthon Hospital, Helsinki, Finland, fDepartment of Medicine, Helsinki University Central Hospital, Finland
- Dr Peterson
- Revised 17 June 1999
- Accepted 5 August 1999
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.
