• Korean Journal of Clinical Laboratory Science
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• v.56 no.1
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• pp.66-72
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• 2024

Lipid metabolic disorders are commonly encountered in clinical practice. Dyslipidemia and its prevalence rate are strongly associated with the morbidity and mortality of cardiovascular disease worldwide. We conducted a genetic analysis to determine the association between genetic polymorphisms of the ABO gene in adults middle-aged (40~69 years) with dyslipidemia in the Korean population. A total of 6,750 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 4,403 dyslipidemia cases and 2,347 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in ABO gene were analyzed for their genetic correlation. Eleven SNPs out of the ABO gene demonstrated a statistically significant association with dyslipidemia. Among them, rs8176707 in ABO gene statistically showed the most significant correlation with dyslipidemia (P-value=0.002, odds ratio=0.82, 95% confidence interval=0.78~0.86). The minor allele of T polymorphism within the ABO intron genetic region was associated with a decreased risk of dyslipidemia. This study uncovered a significant association between genetic polymorphism in the ABO gene and dyslipidemia. This finding suggest that ABO SNPs markers have a genetic correlation with the etiology of dyslipidemia.

• Journal of Life Science
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• v.20 no.6
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• pp.964-967
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• 2010

Plasmid-mediated quinolone resistance (PMQR) determinants have been contributed to quinolone resistance of gram-negative bacteria worldwide. However, little data on the prevalence of these determinants in bacteria from animals are available in Korea. In this study, the prevalence of PMQR genes was investigated with E. coli originating from diseased animals. Among 55 E. coli tested, 11 showed PMQR genes by PCR. The most prevalent genotype was qepA (14.5%), followed by aac(6')-Ib-cr (7.3%) and qnrS (1.8%). Interestingly, two isolates with PMQR genes did not show quinolone resistance in this study. The isolates exhibited higher fluoroquinolone resistance in aac(6')-Ib-cr in combination with qnrS or qepA compared with aac(6')-Ib-cr only. In a conjugal transfer test, PMQR genes were transferred from donor to recipient.

• Proceedings of the Korea Information Processing Society Conference
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• 2003.05b
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• pp.1063-1066
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• 2003

지능형 게임 개발을 위하여 게임 이론의 정의, 게임의 구성요소, 전략적 게임의 분석을 통해 게임에 대한 배경 환경을 살펴보고, 보다 사실적 느낌 전달을 위한 게임 애니메이션과 게임에 적용되는 인공지능 기술을 퍼지 이론, 뉴럴네트웍으로 분류하여 적용 현황을 살펴보았다. 즉 게임처럼 수학적 표현이 어려운 경우 해결점을 퍼지 이론에서, 캐릭터의 움직임을 제어하는 퍼지 Rule Base를 찾아내는 연구를 신경망 인공지능을 통해 해결하는 과정을 살펴보고 국부해의 단점을 갖는 신경망 인공지능의 불투명성 해결 방법을 유전자 알고리즘에서 찾았다. 결론적으로 게임에서 이루어지는 물리적 특성인 충돌에 대한 충돌검사 알고리즘, 충돌반응에 대한 최적화를 유전자 알고리즘을 적용하여 해결하였다.

• Proceedings of the Korean Information Science Society Conference
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• 2000.10b
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• pp.559-561
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• 2000

현재 활발한 연구가 진행중인 유전자 분석과 같은 분야에서는 유전자 염기 서열과 같은 대규모 서열 정보들에 대한 효과적인 분석기술을 요구하고 있다. 본 논문은 이러한 서열 정보들 사이의 유사도를 측정하고 분석하는 작업을 효과적으로 지원하기 위한 가시화 도구의 개발을 다룬다. 본 논문에서 사용하는 유사도 가시화 기법은 유전자 정보의 유사도 가시화를 위해 제안되었던 시각적 점-행렬 도면(Graphical Dot-Matrix Plots) 기법을 이용하는데, 이 시각적 점-행렬 도면 기법은 비교 대상이 되는 서열 정보의 크기가 커지면 효율적으로 가시화하기가 힘들다는 단점을 가진다. 본 논문은 시각적 점-행렬 도면 기법의 이러한 문제를 해결하기 위해 서열 정보 유사도 비교 결과를 화면의 해상도 내에서 표현할 수 있도록 데이터를 영역별로 분할하고 각 영역별 일치도를 이분 그래프(bipartite graph)의 최대 평면 일치(maximal planar matching)를 이용하여 결정하고 이를 하나의 화소(pixel)로 출력하는 기법을 제안한다.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.680-688
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• 2009

Purpose : Cysteinyl leukotrienes are important proinflammatory mediators in asthma. Recently, it was suggested that a promoter polymorphism in the genes encoding for leukotriene C4 synthase (LTC4S), a key enzyme in the leukotriene synthetic pathway, and cysteinyl leukotriene receptor 1 (CysLTR1) might be associated with aspirin-intolerant asthma. We investigated whether polymorphisms in LTC4S and CysLTR1 genes or their interactions were associated with the asthma phenotype, lung function, or bronchial hyperreactivity (BHR) in Korean children. Methods : A total of 856 asthmatic children and 254 non-asthmatic controls were enrolled; a skin prick test, lung function test and bronchial provocation test were performed. Of those enrolled, 395 children underwent exercise challenge tests. The LTC4S A(-444)C and CysLTR1 T(＋927)C were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. Results : Of those enrolled, 699 children were classified as having atopic asthma and 277 children, as having exercise-induced asthma (EIA). LTC4S and CysLTR1 polymorphisms were not associated with atopic asthma, EIA, or asthma per se. Lung function and BHR were not significantly different between the wild type (AA or TT) and the variant (AC＋CC or TC＋CC) genotypes in asthmatics, atopic asthmatics, and EIA (＋) asthmatics, while total eosinophil counts were higher in the variant type of LTC4S than in the wild type in atopic asthmatics. There were no associations between the gene-gene interactions of LTC4S and CysLTR1 genotypes and the asthma phenotypes. Conclusion : LTC4S A(-444)C and CysLTR1 T(＋927)C polymorphisms and their gene-gene interactions are not associated with asthma phenotype, lung function, or BHR in Korean children.

• Tuberculosis and Respiratory Diseases
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• v.48 no.6
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• pp.853-869
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• 2000

Background : Following several decades of decline, the incidence of tuberculosis has recent1y begun to increase in many countries of this the control of this disease has been impeded by the emergence of multi-drug resistant tuberculosis (MDR-TB). The development of rapid diagnostic methods and effective new drugs are needed to control MDR-TB. One of the new drugs for MDR-TB is rifabutin (RBU) which has been known to be effective in some patients with MDR-TB. A few reports showed that some types of mutations of the rpoB gene, which were known to be present in 96-98% of rifampicin-resistant M. tuberculosis, were associated with the rifampicin-resistant but RBU-susceptible phenotype. This study was performed to investigate the correlation between RBU susceptibility and the patterns of rpoB gene mutations in Korean MDR-TB. Methods : Sixty-five clinical isolates of multi-drug resistant Mycobacterium tuberculosis, gathered from patients who visited the Asan Medical Center from July 1997 to June 1999, were investigated. Clinical responses to rifabutin-containing regimen were evaluated. An RBU susceptibility test and sequencing analysis of rpoB gene were performed, and the results were analyzed to confirm which mutations correlated with RBU-susceptible MDR-TB. Results : Fifty-three of 56 (95%) clinical isolates of MDR-TB had 60 mutations of the rpoB gene. The most frequent mutations were found at codon 531 (43%), and two mutations were combined in seven clinical isolates. Five of 53 (10%) clinical isolates showed the RBU-susceptible phenotype, and in them the characteristic patterns of point mutations were found at codon 509, 516, and 526. Conclusion : The frequency and pattern of mutations of the rpoB gene of Korean MDR-TB isolates were similar to those in western countries, where the prevalence of tuberculosis is low, but some show RBU-susceptible phenotypes. RBU-susceptible MDR-TB isolates showed the characteristic pattern of mutations of the rpoB gene which could be used to rapidly diagnose RBU susceptibility.

• Biomedical Science Letters
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• v.4 no.1
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• pp.11-25
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• 1998

The HLA genes located in the short arm of chromosome 6 specify heterodimeric glycoproteins involved in the regulation of the immune response. Recently, in the elucidation of HLA polymorphism, serological and cellular typing methods have been replaced by DNA typing using polymerase chain reaction (PCR). The purpose of this study was to establish the HLA DNA typing methods and determine gene frequencies of HLA molecules in Koreans. PCR-SSP (sequence specific primers) and PCR-RFLP (restriction fragment length polymorphism) techniques were used for the analysis of HLA-A, -B, -C, DRBl genes and HLA-DQAl, DQBl, DPBl genes, respectively. The results of B-lymphoblastoid cells used for control experiment were consistent with the previous data identified in the 11th International Histocompatibility Workshop. Seventeen, 23, 16, 8, 16, 13 and 37 types of HLA-A, B, C, DQAl, DQBl, DPBl and DRBl alleles were found, respectively, in a total of unrelated 120 Korean individuals. The most frequent HLA alleles were $A^*$02 (27.0%), B$^*$40 (17.6%), Cw$^*$01 (19.2%), DQAl$^*$0301 (32.1%), DQBl$^*$0303 (12.9%), DPBl$^*$0501 (31.3%) and DRBl$^*$1501 (9.2%) among Koreans. This study shows that DNA typing method using PCR technique is a relatively simple, fast and practical tool for the determination of the HLA-class I and II genes. Moreover, the data of HLA gene frequencies could be useful for the Korean database before clinical applications, including organ and unrelated bone marrow transplantation, anthropological study, disease association and individual identification.

• Sleep Medicine and Psychophysiology
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• v.7 no.2
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• pp.115-119
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• 2000

Objectives Summary: A 20-year-old man was presented with a history of difficult waking for 10 years. He suffered from morning headache, chronic fatigue and mild daytime sleepiness but had no history of irresistible sleep attack, cataplexy, hypnagogic hallucination or sleep paralysis. Methods: Night polysomnography (PSG), multiple sleep latency test (MSLT) and HLA-typing were carried out. Results: The PSG showed short sleep latency (4.0 min) and REM latency (2.5 min), increased arousal index (15.7/hour), periodic limb movements during sleep (PLMS index=8.1/hr) with movement arousal index 2.1/hr and normal sleep efficiency (97.5%). The MSLT revealed normal sleep latency (15 min 21 sec) and 4 times sleep-onset REM (SOREM). HLA-typing showed DQ6- positive, that corresponded at the genomic level to the subregion DQB1*0601, which was different from the usual locus in narcolepsy patients (DQB1*0602 and DQA1*0102). Conclusion: Differential diagnosis should be made with circadian rhythm disorder and other causes of primary waking disorder. The possibility of a variant type of narcolepsy could be suggested with an unusual clinical manifestation and a new genetic marker.

• Tuberculosis and Respiratory Diseases
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• v.44 no.6
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• pp.1245-1255
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• 1997

Background : Rifampicin(RFP) is a key component of the antituberculous short-course chemotherapy and the RFP resistance is a marker of multi-drug resistant(MDR) tuberculosis. RPoB gene encodes the $\beta$-subunit of RNA polymerase of M. tuberculosis which is the target of RFP. And rpoB gene mutations are the cause of RFP resistance of M. tuberculosis. Although several reports showed that PCR-SSCP would be a rapid diagnostic method for identifying the RFP resistance, there were few reports Performed using direct, clinical specimens. So we Performed PCR-SSCP analysis of rpoB gene of M. tuberculosis in direct, clinical specimens. Methods : 75 clinical specimens were collected from patients at Asan Medical Center from June to August 1996. After PCR of IS 6110 fragments, 43 both AFB smear-positive and IS6110 fragment PCR-positive specimens were evaluated. The RFP susceptibility test was referred to the referral laboratory of the Korean Tuberculosis Institute. DNA was extracted by bead beater method. And heminested PCR was done using 0.1ul(1uCi) [$\alpha-^{32}P$]-dCTP. SSCP analysis was done using non-denaturating MDE gel electrophoresis. Results : The results of PCR of IS6110 fragments of M. tuberculosis were positive in 55(73%) cases of 75 AFB smear-positive clinical specimens. Of the 55 specimens, RFP susceptibility was confirmed in only 43 specimens. Of the 43 AFB smear-positive and IS6110 fragment-positive specimens, 29 were RFP susceptible and 14 were RFP resistant. All the RFP susceptible 29 strains showed the same mobility compared with that of RFP sensitive H37Rv in SSCP analysis of ropB gene. And all the other RFP resistant 13 strains showed the different mobility. In other words they showed 100% identical results between PCR-SSCP analysis and traditional susceptibility test. Conclusion : The PCR-sseP analysis of rpoB gene in direct clinical specimens could be used as a rapid diagnostic method for detecting RFP resistant M. tuberculosis.

• Annals of Clinical Microbiology
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• v.22 no.1
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• pp.9-13
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• 2019

Background: The isolation of carbapenemase-producing Enterobacteriaceae (CPE) has become increasingly common. Continuous surveillance for these organisms is essential because their infections are closely related to outbreaks of illness and are associated with high mortality rates. The aim of this study was to develop and evaluate multiplex PCR as a means of detecting several important CPE genes simultaneously. Methods: We aimed to develop a multiplex PCR that could detect seven CPE genes simultaneously. The multiplex PCR was composed of seven primer sets for the detection of KPC, IMP, VIM, NDM-1, GES, OXA-23, and OXA-48. We designed different PCR product sizes of at least 100 bp. We evaluated the performance of this new test using 69 CPE-positive clinical isolates. Also, we confirmed the specificity to rule out false-positive reactions by using 71 carbapenem-susceptible clinical strains. Results: A total of 69 CPE clinical isolates showed positive results and were correctly identified as KPC (N=14), IMP (N=13), OXA-23 (N=12), OXA-48 (N=11), VIM (N=9), GES (N=5), and NDM (N=5) by the multiplex PCR. All 71 carbapenem-susceptible clinical isolates, including Enterococcus faecalis, Escherichia coli, Klebsiella pneumoniae, Acinetobacter baumannii, and Pseudomonas aeruginosa, showed negative results. Conclusion: This multiplex PCR can detect seven CPE genes at a time and will be useful in clinical laboratories.