J Med Life Sci > Volume 10(2); 2013 > Article
Journal of Medicine and Life Science 2013;10(2):111-115.
DOI: https://doi.org/10.22730/jmls.2013.10.2.111    Published online December 18, 2018.
제주 지역의 만성육아종질환에서 발견되는 CYBA 유전자 내 특정 유전자 돌연변이의 현황 연구
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A Survey on the Present Condition of Subjects Carrying the Unique Mutated Allele in CYBA Gene on Jeju Island, Korea
Seong Hye Park, Young Mee Kim, Moonjae Cho, Kyung-Sue Shin
Correspondence:  Kyung-Sue Shin,
Abstract
The estimated prevalence of chronic granulomatous disease (CGD) is between 1 in 200,000 and 1 in 250,000 individuals, with variable occurrence in different countries. According to a collation by the Korean College of Pediatric Clinical Immunology, the prevalence of CGD in Korea was 0.9 in 1,000,000 individuals. Although most regions of Korea had similar prevalence of CGD, the prevalence of CGD on Jeju Island was a surprising 20.7 in 1,000,000 individuals. Previously, we demonstrated that all CGD patients on Jeju Island had an identical mutation in the CYBA gene. We hypothesized that the high prevalence of CGD on Jeju Island is associated with an identical mutation inherited from a common ancestor or proband. In this study, we developed highly sensitive assay using mutation-specific primers to detect the unique mutation in the CYBA gene on Jeju Island. We investigated the frequency of subjects carrying the unique mutated allele in CYBA gene. Circa 700 subjects from Seogwipo City (~0.5% of the population of Seogwipo City) were enrolled, 1.1% of whom had the CYBA mutated allele. A significant difference was observed between the expected and calculated numbers in the population of Seogwipo City (~2% of the population) by Hardy?Weinberg equilibrium. Further studies are necessary to elucidate the frequency at which this mutant allele occurs in the population of Jeju Island.
Key Words: Chronic granulomatous disease, p22phox, CYBA
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