Analysis of the human Atox 1 homologue in Wilson patients.

Analysis of the human Atox 1 homologue in Wilson patients. Research Abstract Details 

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Analysis of the human Atox 1 homologue in Wilson patients. Abstract Text:

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. CONCLUSION: Based on the data of this study, no major role can be attributed to Atox1 in the pathophysiology or clinical variation of Wilson disease.

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Analysis of the human Atox 1 homologue in Wilson patients. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: World journal of gastroenterology : WJG

VOLUME: 14

Page Numbers: 2383-7

Journal Abbreviation: World J. Gastroenterol.

ISSN: 1007-9327

DAY: 21

MONTH: Apr

YEAR: 2008

Analysis of the human Atox 1 homologue in Wilson patients. Information

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LANGUAGE: eng

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Grant and Affiliation Information for Analysis of the human Atox 1 homologue in Wilson patients.

AFFILIATION: Department of Gastroenterology, University of Heidelberg, INF 410, D-69120 Heidelberg, Germany. kontakt@dr-schaefer-praxis.de.

Country: China

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MEDLINETA: World J Gastroenterol

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