• 대한임상검사과학회지
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• 제38권3호
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• pp.158-165
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• 2006

Although Mycobacterium tuberculosis complex strains remain responsible for the majority of diseases caused by mycobacterial infections worldwide, the increase in HIV infections has allowed for the emergence of other non-tuberculous mycobacteria as clinically significant pathogens. However, Mycobacterium species has a long period of incubation, and requires serious biochemical tests such as niacin, catalase, and nitrate test that are often tedious. The development of rapid and accurate diagnostics can aid in the early diagnosis of disease caused by Mycobacterium. The current DNA amplification and hybridization methods that have been developed target several genes for the detection of mycobacterial species such as hps65, 16S rDNA, rpoB, and dnaj. These methods produce rapid and accurate results. In this study, PCR-restriction fragment length polymorphism analysis(PCR-RFLP) based on the region of the rpoB gene was used to verify the identification of non-tuburculosis Mycobacterium species. A total of 8 mycobacterial reference strains and 13 clinical isolates were digested with restriction enzymes such as Msp I in this study. The results of using this process clearly demonstrated that all 13 specimens were identified by rpoB gene PRA method. The PCR-RFLP method based on the rpoB gene is a simple, rapid, and accurate test for the identification of Mycobacterium.

• Parasites, Hosts and Diseases
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• 제50권2호
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• pp.103-111
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• 2012

Intestinal giant-cystic disease (IGCD) of the Israel carp (Cyprinus carpio nudus) has been recognized as one of the most serious diseases afflicting inland farmed fish in the Republic of Korea, and Thelohanellus kitauei has been identified as the causative agent of the disease. Until now, studies concerning IGCD caused by T. kitauei in the Israel carp have been limited to morphological and histopathological examinations. However, these types of diagnostic examinations are relatively time-consuming, and the infection frequently cannot be detected in its early stages. In this study, we cloned the full-length 18S rRNA gene of T. kitauei isolated from diseased Israel carps, and carried out molecular identification by comparing the sequence with those of other myxosporeans. Moreover, conventional PCR and real-time quantitative PCR (qPCR) using oligonucleotide primers for the amplification of 18S rRNA gene fragment were established for further use as methods for rapid diagnosis of IGCD. Our results demonstrated that both the conventional PCR and real-time quantitative PCR systems applied herein are effective for rapid detection of T. kitauei spores in fish tissues and environmental water.

• 대한유전성대사질환학회지
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• 제1권1호
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• pp.23-27
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• 2001

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in the GLUT 2 gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine, and kidney. This disease is characterized by hepatorenal glycogen accumulation, both fasting hypoglycemia as well as postprandial hyperglycemia and hyperglactosemia, and generalized proximal renal tubular dysfunctions. We report the first Korean patient with FBS diagnosed based on clinical manifestations and identification of a novel mutation in the GLUT 2 gene. She was initially diagnosed having a neonatal diabetes mellitus due to hyperglycemia and glycosuria at 3 days after birth. In addition, newborn screening for galactosemia revealed hypergalactosemia. Thereafter, she has been managed with lactose free milk, insulin therapy. However, she failed to grow and her liver has been progressively enlarging. Her liver functions were progressively deteriorated with increased prothrombin time. Liver biopsy done at age 9 months indicated micronodular cirrhosis with marked fatty changes. She succubmed to hepatic failiure with pneumonia at 10 months of age. Laboratory tests indicated she had generalized proximal renal tubular dysfuctions; renal tubular acidosis, hypophosphatemic rickets, and generalized aminoaciduria. Given aforementioned findings, the diagnosis of FBS was appreciated at age of 2 months. The DNA sequencing analysis of the GLUT 2 gene using her genomic DNA showed a novel mutation at 5th codon; Lysine5 Stop (K5X).

• Genomics & Informatics
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• 제9권3호
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• pp.114-120
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• 2011

Chronic inflammation has been implicated as one of the important etiological factors in insulin resistance and type 2 diabetes mellitus (T2DM). To investigate the role of anti-inflammatory cytokines in the development of T2DM, we conducted a case-control study to assess the association between IL4/IL4R polymorphisms and disease risk. We firstly identified single nucleotide poly-morphisms (SNP) at IL4 and IL4RA loci by sequencing the loci in Korean participants. Case-control studies were conducted by genotyping the SNPs in 474 T2DM cases and 470 non-diabetic controls recruited from community-based cohorts. Replication of the associated signals was performed in 1,216 cases and 1,352 controls. We assessed effect of IL4 -IL4RA interaction on T2DM using logistic regression method. The functional relevance of the SNP associated with disease risk was determined using a reporter expression assay. We identified a strong association between the IL4 promoter variant rs2243250 and T2DM risk (OR=0.77; 95% CI, 0.67~0.88; p=$1.65{\times}10^{－4}$ in the meta-analysis). The reporter gene expression assay demonstrated that the presence of rs2243250 might affect the gene expression level with ~1.5-fold allele difference. Our findings contribute to the identification of IL4 as a T2D susceptibility locus, further supporting the role of anti-inflammatory cytokines in T2DM disease development.

• 한국정보기술학회논문지
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• 제16권11호
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• pp.1-9
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• 2018

신약 재창출은 현재 사용되는 약물의 새로운 용도를 발견하는 방법이다. 텍스트 마이닝은 정형화되지 않은 문서로부터 의미 있는 지식을 획득하는 과정을 의미한다. 본 논문에서는 약물-유전자와 유전자-질병에서 동시에 측정된 유전자 출현 빈도의 비율을 고려하여 새로운 약물-질병 관계를 추론하는 방법을 제안한다. 생물학적 문헌으로부터 약물-유전자와 유전자-질병의 동시출현 빈도를 측정하고 각 약물과 질병에 대하여 유전자의 출현 비율을 계산한다. 약물-질병 관계의 가중치는 동시에 측정된 유전자 출현 비율의 평균을 이용하여 계산되고 이를 이용하여 각 질병의 분류 정확도를 측정한다. 약물-질병 관계를 추론하는 것에서 동시출현 빈도를 문장 단위로 측정하고 여러 관계를 고려하는 방법이 기존 방법보다 더 정확히 식별해내는 것을 보였다.

• Journal of Veterinary Science
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• 제23권5호
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• pp.73.1-73.8
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• 2022

Background: Lumpy skin disease (LSD), a disease transmitted by direct and indirect contact with infected cattle, is caused by the Lumpy skin disease virus (LSDV). The disease affects cattle herds in Africa, Europe, and Asia. The clinical signs of LSD range from mild to the appearance of nodules and lesions in the skin leading to severe symptoms that are sometimes fatal with significant livestock economic losses. Objectives: This study aimed to characterize LSDV strains in the blood of infected cattle in Thailand based on the GPCR gene and determine the phylogenetic relationship of LSDV Thailand isolates with published sequences available in the database. Methods: In total, the blood samples of 120 cattle were collected from different farms in four provinces in the northeastern part of Thailand, and the occurrence of LSDV was examined by PCR based on the P32 antigen gene. The genetic diversity of LSDV based on the GPCR gene was analyzed. Results: Polymerase chain reaction assays based on the P32 antigen gene showed that 4.17% (5/120) were positive for LSDV. All positive blood samples were amplified successfully for the GPCR gene. Phylogenetic analysis showed that LSDV Thailand isolates clustered together with LSDVs from China and Russia. Conclusions: The LSD outbreak in Thailand was confirmed, and a phylogenetic tree was constructed to infer the branching pattern of the GPCR gene from the presence of LSDV in Thailand. This is the first report on the molecular characterization of LSDV in cattle in Thailand.

• 식물병연구
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• 제29권2호
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• pp.130-136
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• 2023

Citrus melanoses caused by Diaporthe citri, has been one of the serious diseases in many citrus orchards of Jeju Island. To protect melanose in citrus farms, a fast and exact diagnosis method is necessary. In this study, diseased leaves and dieback twigs were collected from a total of 49 farms within March to April in 2022. A total of 465 fungal isolates were obtained from a total of 358 isolated plant samples. Among these fungal isolates, 40 representatives of D. citri isolates which were isolated from 22 twigs and 18 leaves on 23 farms were found based on cultural characteristics on potato dextrose agar and conidial morphology. Additionally, the molecular assay was carried out and compared with those by morphological diagnosis. All isolates were identified as D. citri by analyzing the sequences at the internal transcribed spacer (ITS) rDNA region using primers of ITS1/ITS4 or at β-tubulin using primer Btdcitri-F/R. Therefore, based on the present study, where the results of morphological identification of conidial type were consistent with DNA sequence analysis of certain gene, choosing a suitable method for a fast diagnosis of citrus melanose was suggested.

• Fisheries and Aquatic Sciences
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• 제27권3호
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• pp.159-170
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• 2024

Research to obtain molecular markers related to the major histocompatibility complex (MHC) gene in both strains of gourami is essential to increase the success of the selection program of disease resistance traits. Using a completely randomized design (CRD), the challenge test consists of four treatments and seven replications. The treatment was Jambi gourami injected with PBS (KJ), Kalimantan gourami injected with PBS (KK), Jambi strain injected with Aeromonas hydrophila (GJ), and Kalimantan strain injected with A. hydrophila (GK). The GJ population was more resistant to A. hydrophila than the GK population. The MHC II gene was detected in both test strains (GJ and GK), both resistant and susceptible fish. However, there were differences in the results of amplifying the MHC II gene in susceptible and resistant fish. Two DNA fragments approximately 400 and 585 bp were detected in the genome of susceptible fish, while in the genome of susceptible fish, only one DNA fragment was detected (400 bp). Therefore, the MHC II gene fragment with a size of about 585 bp can be used as a potential candidate for specific molecular markers to obtain resistance to A. hydrophila bacteria in the giant gourami.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.87-91
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• 2018

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

• IMMUNE NETWORK
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• 제11권5호
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• pp.227-244
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• 2011

MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of miRNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress.