RESUMEN

OBJECTIVE: Determine the frequency of mutations in exon 8 of ATP7B gene. MATERIAL AND METHOD: The exon 8 of ATP7B gene in twenty 20 unrelated Thai patients with Wilson disease (WD) was analyzed RESULTS: 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.

Asunto(s)

Adenosina Trifosfatasas/genética , Proteínas de Transporte de Catión/genética , Exones , Degeneración Hepatolenticular/genética , Mutación Missense , Adenosina Trifosfatasas/metabolismo , Adolescente , Adulto , Pueblo Asiatico/genética , Proteínas de Transporte de Catión/metabolismo , Niño , ATPasas Transportadoras de Cobre , Análisis Mutacional de ADN , Femenino , Degeneración Hepatolenticular/diagnóstico , Degeneración Hepatolenticular/etnología , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Tailandia , Adulto Joven