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Yongin, South Korea

Choi G.E.,Pusan National University | Lee S.M.,Pusan National University | Yi J.,Pusan National University | Hwang S.H.,Pusan National University | And 6 more authors.
Journal of Clinical Microbiology | Year: 2010

We evaluated high-resolution melting (HRM) curve analysis as a tool for detecting rifampin (RIF) and isoniazid (INH) resistance in Mycobacterium tuberculosis in an accurate, affordable, and rapid manner. Two hundred seventeen M. tuberculosis clinical isolates of known resistance phenotype were used. Twenty-nine known rpoB mutant DNAs, including rare mutations, were also included. Four pairs of primers were designed: rpoB-F/R (for codons 516 to 539 of rpoB), rpoB-516F/R (for codons 508 to 536 of rpoB), katG-F/R (for the codon 315 region of katG), and inhA-F/R (for the nucleotide substitution of C to T at position -15 of inhA). An HRM curve was generated for each isolate after real-time PCR differentiated the mutant from the wild-type strains. DNA sequencing of the target regions was performed to confirm the results of the HRM curve analysis. All but one of the 73 RIF-resistant (RIF-R) strains and all 124 RIF-susceptible (RIF-S) isolates were correctly identified by HRM curve analysis of rpoB. Twenty-seven of 29 known rpoB mutants were detected. In HRM curve analysis of katG and inhA, 90 INH-R strains that harbored katG or inhA mutations, or both, and all INH-S strains were correctly identified. Ten phenotypically INH-R strains not harboring katG or inhA mutations were not detected. The HRM curve analysis will be a useful method for detection of RIF and INH resistance in M. tuberculosis in a rapid, accurate, simple, and cost-effective manner. Copyright © 2010, American Society for Microbiology. All Rights Reserved. Source

Lim B.C.,Seoul National University | Hwang H.,Seoul National University | Chae J.H.,Seoul National University | Choi J.-E.,Seoul National University | And 4 more authors.
Seizure | Year: 2011

Objective: The aim of this study was to characterize the SCN1A mutation spectrum in Korean patients with Dravet syndrome. Methods: Twenty-nine patients diagnosed with Dravet syndrome at the Seoul National University Children's Hospital were included in the study. Direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to identify SCN1A mutations. Mutations were classified as either truncation (nonsense and frameshift) or missense mutations. Results: Nineteen pathogenic mutations (19/29; 66%) and three unclassified variants were identified. One large deletion mutation spanning exons 1-20 was detected using MLPA. Fifteen of these 19 SCN1A mutations were novel. Eleven mutations were classified as truncations (seven frameshift and four nonsense mutations) and seven were classified as missense mutations. Truncating mutations spanned the whole span of subunits of the SCN1A protein, whereas all missense mutations were localized at either the voltage sensor (S4) or the ion pore (S5-S6) regions. Analysis according to clinical phenotype revealed that SCN1A mutations were more frequent in the classic group than in the borderline group (78% vs. 45%). Conclusions: SCN1A mutational analysis of Korean Dravet syndrome patients resulted in the identification of 15 novel mutations, which could expand the spectrum of SCN1A mutations and confirms the current understanding of genotype-phenotype correlations. © 2011 British Epilepsy Association. Source

Kang S.-H.,Chosun University | Lee E.H.,Greencross Reference Laboratory | Park G.,Chosun University | Jang S.J.,Chosun University | Moon D.S.,Chosun University
Annals of Clinical and Laboratory Science | Year: 2012

This study was designed to compare two automated systems and one manual system for hepatitis B virus (HBV) nucleic acid extraction. The two automated systems were the MagNA Pure 96 system (Roche Applied Science, Manheim, Germany) and the Chemagic system (Chemagen, Baesweiler, Germany), and the manual system was the QIAamp system (Qiagen, Hilden, Germany). Sixty-eight samples that were within the detection range of the Cobas Ampliprep/Cobas TaqMan (CAP/CTM) platform (Roche Molecular Systems, Manheim, Germany) were selected. Extracted viral nucleic acids from the three systems were quantified using an AccuPower HBV Quantitative PCR kit (Bioneer, Daejon, Korea). The MagNA Pure 96 system and QIAamp system did not detect viral loads in one sample. The Chemagic system did not detect low viral loads in nine samples (range, 26-290 IU/mL by the CAP/CTM platform). Comparisons of the viral loads of the samples from the MagNA Pure 96 system, the Chemagic system, and the QIAamp system with those from the CAP/CTM platform yielded correlation coefficients of 0.977, 0.914, and 0.967, respectively. Comparisons of the MagNA Pure 96 system and the Chemagic system with the QIAamp system yielded correlation coefficients of 0.987 and 0.939, respectively. The MagNA Pure 96 system demonstrated better performance than the Chemagic system for HBV nucleic acid extraction. The MagNA Pure 96 system demonstrated comparable performance with the QIAamp system. © 2012 by the Association of Clinical Scientists, Inc. Source

Kim M.J.,Kyung Hee University | Cho S.Y.,Kyung Hee University | Kim M.-H.,Kyung Hee University | Lee J.J.,Kyung Hee University | And 8 more authors.
Cancer Genetics and Cytogenetics | Year: 2010

Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature. Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. Discussion includes a relevant literature review of similar cases. DNA-PCR can be a useful tool for the analysis of complex and cryptic rearrangements. © 2010 Elsevier Inc. Source

Park T.S.,Kyung Hee University | Cho S.Y.,Kyung Hee University | Lim G.,Kyung Hee University | Park G.J.,Kyung Hee University | And 4 more authors.
Annals of Clinical and Laboratory Science | Year: 2011

SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient. As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clinical features and treatment outcomes have not been fully determined. Further studies are necessary to evaluate the incidence of SET-NUP214 rearrangement in T-ALL patients and the treatment responses as well as prognosis of these patients. © 2011 by the Association of Clinical Scientists, Inc. Source

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