• Journal of the Korea Convergence Society
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• v.9 no.5
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• pp.91-97
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• 2018

This study has been conducted to see the expression of $TGF-{\beta}_1$, c-Myc, Erb-B2 and $Thymosin-{\beta}_4$ genes in ethanol - damaged liver tissues. Experimental groups were divided into 2 groups, one where damaged liver was caused by 25% ethanol and normal group administered with purified water. Results of test showed the expression of $TGF-{\beta}_1$, c-Myc, and $Thymosin-{\beta}_4$ genes was higher in the experimental group treated with 25% ethanol than in the normal group. Erb-B2 gene was not expressed clearly. Thus, it is considered that we can expect to utilize $TGF-{\beta}_1$, c-Myc 및 $Thymosin-{\beta}_4$ as auxiliary data and find clinical meanings of diagnosis on hepatic diseases, In addition to serologic and histological examination by convergence examining the gene expression status by molecular diagnostic techniques in liver-related disease prevention and diagnosis through results of this study.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.78-86
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• 2015

Purpose: Homocystinuria (OMIM#236200) is a metabolic disease caused by mutation in the CBS gene. This study was conducted to identify the clinical features and prognosis of homocystinuria as well as to find out the CBS gene mutations of the six homocystinuria patients who were receiving treatment in the Pediatric Department at Soonchunhyang University Hospital. Methods: From January 1992 to March 2015, clinical, biochemical, and genetic analyses were performed retrospectively on the six patients diagnosed with classic homocystinuria at Soonchunhyang University Hospital. Results: A total of six patients were included in this study, including three who were diagnosed with homocystinuria at the mean age of $50{\pm}22.5$ days based on their abnormal newborn screening test results. The other three were diagnosed at the mean age of 7, when they visited the hospital for evaluation of developmental delay and lens dislocation. The group diagnosed at early infancy had normal cognitive function, but the other group had varying degrees of mental retardation. Major complications were found only in the group diagnosed after infancy. CBS gene mutation was found in all the patients, and they were all non-responsive to vitamin B6 treatment. At present, all patients' diets are controlled following a methionine-free formula and they are on medication with folic acid, betaine, pyridoxine, and methylcobalamin. Conclusion: Six homocystinuria patients were monitored for up to 23 years. The group diagnosed at early infancy exhibited no major complications. Therefore, early diagnosis is crucial in the prognosis, and homocystinuria must be included in the newborn screening program.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.49-54
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• 2015

Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

• Biomedical Science Letters
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• v.5 no.2
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• pp.135-145
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• 1999

A total of 45 Staphylococcus aureus strains from clinical samples were tested for the biochemical test and antibiotic susceptibility test. Forty-five S. aureus strains were subjected to the molecular epidemiological study by susceptiblity test, antibiogram, bacteriophage typing, polymerase chain reaction and mec-associated hypervariable region gene in order to detect of mecA gene which was one of the structural gene related to antibiotic resistant expression factors. Three of 15 mecA-negative S. aureus isolates were classified as oxacillin resistant despite borderline minimal inhibitory concentration values. Methicillin susceptiblities were completely consistent with PCR results for these strains. On the other hand, 4 of 30 mecA-positive isolates yielded results in the oxacillin and methicillin susceptibility tests which were discrepant from those of PCR analysis. Except for SA6, the methicillin resistant S. aureus strains tested were highly resistant to penicillin, oxacillin, gentamicin, and chloramphenicol. In the phage typing, 27 strains were typable. The Iytic group III was as many as 12 strains, and 7 of 12 were 75/83A/84 type. In the PCR of specific mecA gene probe with chromosomal DNA of 30 methicillin resistant S. aureus, the amplified DNA band of 533 bp was confirmed in 30 strains and not in methicillin sensitive S. aureus. The single amplified band of hypervariable region related to mec was investigated in all of 30 methicillin resistant S. aureus, but in methicillin sensitive S. aureus it was amplified. The size of PCR products was between 200 bp and 600 Up. Four units was directly repeated.

• Journal of Veterinary Clinics
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• v.27 no.2
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• pp.125-129
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• 2010

A 2-year-old female Pomeranian dog was referred with multiple pelvic fractures. The surgical correction was performed for the fractures. However, after the surgery, purulent exudation was occurred in the surgical site. Antibiotic susceptibility test revealed that the isolated bacteria are resistant to penicillins, cephalosporins, aminoglycosides, quinolones, and trimethoprim/sulfamethoxazole. Bacterial identification and extended-spectrum $\beta$-lactamase (ESBL) confirming test indicated that the isolated bacteriae is ESBL-producing Klebsiella pneumoniae. Minimum inhibitory concentration (MIC) and maximum bactericidal concentration (MBC) tests revealed that meropenem, one of carbapenems, is the only effective antibiotic. The patient was treated with meropenem for 5 days. After 10 days, the exudation was disappeared and the infection was cured. The molecular typing of the ESBL revealed that TEM-1 ESBL is present in the bacteria isolated from the patient. The bacteria isolated from the owner's palm also revealed that TEM-1 and SHV-1 ESBLs are present.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1150-1154
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• 2002

Wolff-Parkinson-White(WPW) syndrome is characterized by electrographic evidence of ventricular preexcitation, which predisposes to supraventicular arrhythmias. Familial occurrence of WPW syndrome is uncommon. We observed two affected siblings in a family. Five members of the family underwent 12-lead electrocardiography and echocardiography. Although known genetic abnormality of the 7q34-q36(PRKAG2) for the familial WPW syndrome was evaluated, the mutation was not detected in this family. Other unknown mutations responsible for this familial WPW syndrome were suggested.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
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• 2004.05a
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• pp.177-180
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• 2004

본 연구는 PCR-RFLP 및 PCR-SSCP 기법을 이용하여 PSE 돈육을 생산하는 PSS 돼지 유전자 진단 기술을 개발하고 이를 이용한 국내 종돈 및 교잡 비육돈의 PSS 유전자 출현 빈도를 파악하고자 수행하였다. 돼지 PSS의 원인이 되는 ryanodine receptor 유전자의 단일염기 돌연변이 $C{\rightarrow}T$ ; $Arg\;{\rightarrow}\;Cys$)를 포함하는 134 bp 영역을 PCR로 증폭한 후 RFLP 및 SSCP 기법으로 분석한 결과 동형접합체의 정상(N/N), 이형접합체의 잠재성 개체 (N/n) 그리고 돌연변이 유전자를 동형접합체 상태로 갖는 PSS 감수성 개체(n/n)에 각각 특이적인 유전자형이 검출되었다. 특히, PCR-SSCP기법을 이용한 RYR1 유전자 돌연변이 검출 방법은 보다 신속 간편하면서도 상대적으로 분석비용이 저렴한 정확성이 높은 PSS 돼지 진단기술로서 대규모 돼지집단검색이나 RFLP 방법으로 판정이 불확실한 시료의 재검에 효율적으로 이용할 수 있을 것으로 판단된다.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.1-7
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• 2023

Inherited metabolic disorders (IMD) are a group of disorders involving various metabolic pathways. Genetic diagnosis of IMD has been challenging because of extremely heterogeneous nature and extensive laboratory and/or phenotype overlap. Conventional genetic diagnosis was a gene-by-gene approach that needs a priori information on the causative genes that might underlie the IMD. Recent implementation of next-generation sequencing (NGS) technologies has changed the process of genetic diagnosis from a gene-by-gene approach to simultaneous analysis of targeted genes possibly associated with the IMD using gene panels or using whole exome/genome sequencing (WES/WGS) covering entire human genes. Clinical NGS tests can be a cost-effective approach for the rapid diagnosis of IMD with genetic heterogeneity and are becoming standard diagnostic procedures.

• Environmental engineer
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• s.178
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• pp.66-72
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• 2001

기존의 Microtox assay를 대체하고 국내 실정에 맞는 독성검사-조기경보장치를 개발하기 위하여 독성물질에 매우 민감하게 반응하는 새로운 세균을 수계에서 분리하여 발광유전자인 luxAB로 형질전환시켰다. 또한, luxAB유전자를 포함하는 플라스미드로 형질전환된 균주를 이용하여 여러 가지 독성물질에 대한 독성검사를 수행하였다. 민감도를 증진시킨 균주 YH9-RC를 대상으로 여러 가지 화합물에 대한 EC50 값을 측정하였을 때 기존의 Microtox

• Korean Journal of Clinical Laboratory Science
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• v.51 no.3
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• pp.301-308
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• 2019

The emergence and spread of multidrug resistant (MDR) Pseudomonas aeruginosa is a critical problem worldwide. The pathogenesis of P. aeruginosa is due partly to the production of several cell-associated and extracellular virulence factors. This study examined the distribution of virulence factors and antimicrobial resistance patterns of carbapenem-resistant P. aeruginosa (CRPA) isolated from a tertiary hospital in Daejeon, Korea. Antimicrobial susceptibility testing was performed using the disk diffusion method, and PCR and DNA sequencing were performed to determine for the presence of virulence genes. In addition, the sequence type (ST) of MDR P. aeruginosa was investigated by multilocus sequence typing (MLST). Among 32 CRPA isolates, 14 (43.8%) were MDR and the major ST was ST235 (10 isolates, 71.4%). All isolates were positive for the presence of virulence genes and the most prevalent virulence genes were toxA, plcN, and phzM (100%). All isolates carried at least eight or more different virulence genes and nine (28.1%) isolates had 15 virulence genes. The presence of the exoU gene was detected in 71.4% of the MDR P. aeruginosa isolates. These results indicate that the presence of the exoU gene can be a predictive marker for the persistence of MDR P. aeruginosa isolates.