Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
J Med Assoc Thai
; 94(10): 1184-8, 2011 Oct.
Article
em En
| MEDLINE
| ID: mdl-22145502
ABSTRACT
OBJECTIVE:
Determine the frequency of mutations in exon 8 of ATP7B gene. MATERIAL ANDMETHOD:
The exon 8 of ATP7B gene in twenty 20 unrelated Thai patients with Wilson disease (WD) was analyzedRESULTS:
Three heterozygous mutations were identified in four patients. The Arg778Leu (G2333T) and 2299insC mutations have been previously reported. The authors also identified a novel missense mutation, Thr766Arg (C2297G). Despite the Arg778Leu mutation being common in East Asian populations, its frequency in Thais was only 5% in the presented patients.CONCLUSION:
Sequencing of the exon 8 of the ATP7B gene is insufficient for the diagnostic service testing in Thais.
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Base de dados:
MEDLINE
Assunto principal:
Éxons
/
Adenosina Trifosfatases
/
Mutação de Sentido Incorreto
/
Proteínas de Transporte de Cátions
/
Degeneração Hepatolenticular
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article