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Original ArticleOpen Access
Analysis of Exon 8 of ATP7B Gene in Thai Patients with Wilson Disease
Keandaungjuntr J 
,
Busabaratana M ,
Kositchaiwat C ,
Sura T ,
Pulkes T
,
Busabaratana M ,
Kositchaiwat C ,
Sura T ,
Pulkes T 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.
Keywords: Wilson disease, Exon 8, ATP7B gene, Arg778Leu
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.
Keywords: Wilson disease, Exon 8, ATP7B gene, Arg778Leu
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