New Method for Detection of p22-phox-deficient Chronic Granulomatous Disease Heterozygote Carriers in Jeju
2012
Kim, Y.M., Jeju National University, Jeju, Republic of Korea | Shin, K.S., Jeju National University, Jeju, Republic of Korea | Cho, M.J., Jeju National University, Jeju, Republic of Korea
Chronic granulomatous disease (CGD) is a genetically heterogeneous disease caused by defects in the genes encoding any one of the NADPH oxidase components. The estimated prevalence of CGD is between 1 in 200,000 and 1 in 250,000 individuals, with variable rates in different countries. According to a compilation by the Korean College of Pediatric Clinical Immunology, the prevalence of CGD in Korea is 0.9 in 1,000,000 individuals. Surprisingly, the prevalence of CGD in Jeju Island is 20.7 in 1,000,000 individuals. We reported an identical homozygous single-base substitution of C to T in exon 1 (c.7C greater than T) of the CYBA gene from 12 CGD patients in Jeju Island. We hypothesized that the high prevalence of CGD in Jeju Island is associated with an identical mutation inherited from a common ancestor or proband. The aim of this study was to develop an assay to detect heterozygote carriers of the genotype specific to Jeju Island. We developed three specific primers, and nested polymerase chain reaction was employed using whole blood samples as a source of genomic DNA. Using the new detection method, 704 individuals were tested, 9 of which were detected as carriers, and the expected number of carriers is 1.3 in 100 individuals.
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