AB129. Prevalence of mutation hotspots in Thai population
Molecular Genetics, Genomics, Mechanisms of Diseases

AB129. Prevalence of ATP7B mutation hotspots in Thai population

Boonyawish Kunakorn1, Sermsiri Chitphuk2, Manisa Boosabaratana3, Atchara Tunteeratum3, Thanyachai Sura3, Donniphat Dejsuphong4

1Medical Program, 2Research Center, 3Department of Internal Medicine, 4Section for Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Salaya, Thailand

Background: Wilson disease (WD), an autosomal recessive disorder, is a disease which effects copper excretion from liver, leading to copper deposit in many organs like liver, central nervous system and skin. This disease is one of a common genetic disorder which carrier prevalence approximate one in a hundred people worldwide. However, there are very few studies in Thai people.

Methods: We identified the prevalence among Thai people by looking at ATP7B mutation hotspots in Asian people from more than 500 DNA samples obtained from staff of Electricity Generating Authority of Thailand (EGAT). We used PCR-restriction enzyme and gel electrophoresis technique to identify each mutation.

Results: According to our study, the prevalence of WD carrier is similar to many Asian countries.

Conclusions: The result will benefit WD carriers for screening and prevention of new cases and decrease the burden of the disease in Thai population.

Keywords: ATP7B; Wilson disease (WD); prevalence; Thailand

doi: 10.21037/atm.2017.s129

Cite this article as: Kunakorn B, Chitphuk S, Boosabaratana M, Tunteeratum A, Sura T, Dejsuphong D. Prevalence of ATP7B mutation hotspots in Thai population. Ann Transl Med 2017;5(Suppl 2):AB129. doi: 10.21037/atm.2017.s129

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