1. Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
- Author
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Keandaungjuntr J, Busabaratana M, Kositchaiwat C, Sura T, and Pulkes T
- Subjects
- Adenosine Triphosphatases metabolism, Adolescent, Adult, Asian People genetics, Cation Transport Proteins metabolism, Child, Copper-Transporting ATPases, DNA Mutational Analysis, Female, Hepatolenticular Degeneration diagnosis, Hepatolenticular Degeneration ethnology, Humans, Male, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Thailand, Young Adult, Adenosine Triphosphatases genetics, Cation Transport Proteins genetics, Exons, Hepatolenticular Degeneration genetics, Mutation, Missense
- Abstract
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.
- Published
- 2011