Analysis of the human Atox 1 homologue in Wilson patients.

ABSTRACT:

Aim

To analyze the metallochaperone antioxidant-1 (Atox1) gene sequence in Wilson disease patients.

Methods

Mutation analysis of the four exons of the Atox1 gene including the intron- exon boundaries was performed in 63 Wilson disease patients by direct sequencing.

Results

From 63 selected patients no mutations were identified after the entire coding region including the intron- exon boundaries of Atox1 were sequenced. One known polymorphism within the Atox1 gene (5'UTR -99 T>C) in 31 (49%) of the Wilson patients as well as one previously undescribed variation (5'UTR -68 C>T) in 2 of the Wilson patients could be detected. Statistical analyses revealed that the existence of a variation within the Atox1- gene showed a tendency towards an earlier onset of the disease.

SUBMITTER: Simon I 

PROVIDER: S-EPMC2705094 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature