• Title/Summary/Keyword: 유전자 검사

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Expression of Membrane Fusion Related Genes in Mouse Ovary (마우스 난소에서 막융합 관련 유전자의 발현)

  • Jung, Bok-Hae;Sung, Hyun-Ho;Park, Chang-Eun
    • Korean Journal of Clinical Laboratory Science
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    • v.48 no.1
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    • pp.8-14
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    • 2016
  • Granulosa cells surround the oocyte within the ovarian follicle and play an essential role in creating conditions required for oocyte as well as follicular development. The current study was conducted to examine the gene expression profile of mouse ovaries during the primordial to primary follicle transition process. Total RNAs from mouse ovaries on day 5 and day 12 were synthesized cDNA using annealing control primers. The DEGs were cloned and their identities were analyzed by BLAST search. The Plekha5 and Anxa11 were highly expressed in primary follicle stage. By contrast, their expression was increased in granulosa cells at the primary follicle stage. We have successfully discovered a list of genes expressed in day 5 and day 12 ovaries and confirmed that some of them are differentially expressed in PMF and/or PRI. This is a spatial-temporal regulatory mechanism on the ovarian folliculogenesis through membrane fusion. The gene expression profile from the current study would provide insight for future study on the mechanism(s) involved in primordial-primary follicular transition. This will provide information for identification of the mechanism of ovarian dysfunction.

Difference in Lung Functions according to Genetic Polymorphism of Tobacco Substance Metabolizing Enzymes of Korean Smokers (한국인 흡연자들의 담배 물질 대사 효소의 유전자 다형성에 따른 폐기능 차이)

  • Kang, Yun-Jung
    • Journal of Convergence for Information Technology
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    • v.10 no.5
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    • pp.134-142
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    • 2020
  • This study aimed to determine whether there was a difference in lung functions of smokers according to the presence of carcinogenic genetic-metabolizing enzymes by comparing the results of lung functions and the presence of genetic metabolizing enzymes that metabolize tobacco substances. To achieve this, 31 smokers without no illness and no psychiatric history were selected (28 males and 3 females); they were aged 20 to 27 years and were physically and mentally healthy students attending K University. Their lung functions were measured, and gene polymorphisms of cytochrome P-450 1A1 (CYP1A1) related to metabolic activation of tobacco components and gene polymorphism of tumor protein 53 (TP53) related to lung cancer were analyzed. As a result, the mean values of lung function of TT and Arg / Arg without genetic mutations were the highest, and ANOVA analysis of CYP1A1 and lung functions showed that the P-value of FVC was 0.049, which was different between groups. In other words, there is no high mutation in Cytochrome P-450 1A1 (CYP1A1) gene, which is associated with the metabolic activation of tobacco components. In other words, In the absence of the mutant Cytochrome P-450 1A1 (CYP1A1) gene, which is associated with the metabolic activation of tobacco components, the value of FVC was high.

The Characteristics of Imipenem-Resistant Bacteria Isolated from One Patient (한 환자에게서 분리된 Imipenem 내성세균들의 특성)

  • Park, Chul;Lee, Hyeok-Jae;Seo, Min-Young
    • Korean Journal of Clinical Laboratory Science
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    • v.49 no.4
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    • pp.413-419
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    • 2017
  • Four imipenem-resistant bacteria were isolated from the clinical specimens of a patient with pneumonia. To identify the isolates, we used the GN card of Vitek II system and performed a phylogenetic analysis based on 16S rRNA gene sequence. The isolates were identified as P. aeruginosa (2 strains), P. monteilii (1 strain), and P. putida (1 strain), and were tested for antibiotic resistance after determining the MIC of imipenem to be $${\geq_-}8{\mu}g/mL$$ using the AST-N225 card of Vitek II system. The imipenem-resistant genotypes were determined using PCR products amplified using specific ${\beta}-Lactamase$ gene primers. The MBL gene was identified in all four isolates. One strain of P. aeruginosa exhibited the VIM and SHV-1 type genes, while the other strain exhibited both VIM and OXA group II genes. According to the antimicrobial susceptibility test, the bacteria were more susceptible to amikacin than other antibiotics. DNA fingerprint analysis using ERIC-PCR to analyze the epidemiological relationship between strains estimated that both the P. aeruginosa isolates were similar, but exhibited different DNA band types. It is uncommon to find four strains of imipenem-resistant bacteria with different DNA band types in a single patient.

Distribution of Antimicrobial Resistant Genes in Acinetobacter calcoaceticus-baumannii Complex Isolated from Clinical Specimens in Chungcheong, Korea (충청지역의 임상검체로부터 분리된 Acinetobacter calcoaceticus-baumannii Complex를 대상으로 항균제 내성 유전자 비교분석)

  • Sung, Ji Youn
    • Korean Journal of Clinical Laboratory Science
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    • v.49 no.4
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    • pp.427-434
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    • 2017
  • Species that belong to the Acinetobacter calcoaceticus-baumannii (Acb) complex are major causes of hospital-acquired infections. They are important opportunistic pathogens. These species are usually multidrug resistant (MDR), and the therapeutic options to treat the infections caused by these species are limited. In the present study, we investigated fluoroquinolone resistance mechanisms in 53 ciprofloxacin resistant Acinetobacter species isolates in Chungcheong, Korea. Antimicrobial susceptibilities were determined using the disk-diffusion method. Detections of genes and identification of mutations associated with fluoroquinolone resistance were carried out using PCR and DNA sequencing. In our study, 47 out of 53 ciprofloxacin resistant Acinetobacter isolates harbored sense mutations at the 83rd residue (serine to leucine) in the gyrA gene as well as at the 80th residue (serine to leucine) in the parC gene. Among the 47 isolates harboring sense mutations in gyrA and parC gene, 44 isolates were A. baumannii and 3 isolates were A. pittii. Plasmid-mediated quinolone resistance (PMQR) determinants were detected in isolates in our study. Among the 46 ciprofloxacin resistant A. baumannii isolates, 41 showed type A, B, or F banding patterns on their REP-PCR profiles. This result suggests that clonal relation and horizontal spreading of the bacterial isolates have been around hospitals in Chungcheong area. To prevent colonization and disseminations of fluoroquinolone resistance Acb complex isolates, continuous investigation and monitoring of antimicrobial resistant determinants of MDR isolates are needed.

Analysis of Sequence Type and Fluoroquinolone Resistance in Ciprofloxacin-Resistant Escherichia coli (Ciprofloxacin 내성 대장균에서 Sequence Type과 Fluoroquinolone 내성의 분석)

  • Cho, Hye Hyun
    • Korean Journal of Clinical Laboratory Science
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    • v.53 no.3
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    • pp.217-224
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    • 2021
  • Fluoroquinolone (FQ) resistant gram-negative pathogens have emerged worldwide, and the recent increase in FQ resistant Escherichia coli is of great concern in Korea. This study investigated FQ resistance determinants and the epidemiological relationship of 56 ciprofloxacin-resistant E. coli isolated from a tertiary hospital in Daejeon, South Korea from June to December 2018. Molecular epidemiology was investigated by multilocus sequence typing (MLST). Polymerase chain reaction (PCR) and sequence analysis were performed to identify chromosomal mutations in the quinolone resistance determining regions (QRDR) of gyrA, gyrB, parC, and parE and to describe the occurrence of the following plasmid-mediated quinolone resistance (PMQR) genes: aac(6)-Ib-cr, qepA, qnrA, qnrB, qnrC, qnrD, and qnrS. MLST analysis showed 12 sequence types (STs) and the most prevalent ST was ST131 (31/56, 55.4%), followed by ST1193 (13/56, 23.2%), and ST405 (3/56, 5.4%). In 56 ciprofloxacin-resistant E. coli isolates, Ser83→Leu and Asp87→Asn in gyrA and Ser80→Ile and Glu84→Val in parC (51.8%, 29/56) were the most frequent amino acid substitutions and aac(6)-Ib-cr (33.9%, 19/56) was the most common PMQR gene. These results of FQ resistance determinants were more frequently observed in ST131 compared with other clones. Continuous monitoring of the epidemiological characteristics of ciprofloxacin-resistant E. coli isolates and further investigation of FQ resistance determinants are necessary.

Regulation of Histone Acetylation and Methylation of the p11 Gene in the Hippocampus of Chronic Unpredictable Stress-induced Depressive Mice (장기간 예측 불가능한 스트레스를 받은 마우스 해마에서 p11 유전자의 히스톤 아세틸화 및 메틸화의 조절)

  • Seo, Mi Kyoung;Seog, Dae-Hyun;Park, Sung Woo
    • Journal of Life Science
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    • v.31 no.11
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    • pp.995-1003
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    • 2021
  • Chromatin remodeling regulates gene expression through epigenetic mechanisms. Aberrations in histone modification have been associated with depression-like behaviors in animal models. Additionally, growing evidence also indicates that epigenetic modification is associated with depression. p11 (S100A10) has been implicated in the pathophysiology of depression both in human and rodent models. In the present study, we investigated alterations in histone acetylation and methylation at the promoter of the p11 gene in the hippocampus of mice subjected to chronic unpredictable stress (CUS). C57BL/6 mice were exposed to CUS daily for 3 weeks. Depression-like behaviors were measured with the forced swimming test (FST). The levels of hippocampal p11 expression were analyzed by quantitative real-time polymerase chain reaction (PCR) and Western blotting. The levels of acetylated and methylated histone H3 at the promoter of p11 were measured by chromatin immunoprecipitation followed by real-time PCR. CUS-exposed mice displayed depression-like behaviors with prolonged immobility in FST. CUS led to significant decreases in the expression of p11 at both protein and mRNA levels. Meanwhile, there was a decrease in histone H3 acetylation (Ac-H3) and H3-K4 trimethylation (H3K4met3) and an increase in H3-K27 trimethylation (H3K27met3) at the p11 promoter. These results indicate that chronic stress causes the epigenetic suppression of p11 expression in the hippocampus.

Plasma Amino Acid and Urine Organic Acid in Diagnosis of MELAS (멜라스 증후군 진단에서의 혈장 아미노산과 소변 유기산 분석)

  • Ji-Hoon Na;Young-Mock Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.1
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    • pp.17-24
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    • 2023
  • Purpose: In the past, detection of metabolic abnormalities in plasma amino acid (PAA) and urine organic acid (UOA) has been widely used to diagnose clinical mitochondrial diseases, such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). In this study, the diagnostic values of PAA and UOA were reviewed, and their effectiveness in the diagnosis of MELAS was examined retrospectively. Methods: Blood and urine samples at the time of diagnosis were collected from all clinically diagnosed MELAS patients (n=31), and PAA and UOA tests were performed. All samples were collected in a fasting state to minimize artifacts in the results. The difference in the ratio of abnormal metabolites of PAA and UOA at initial diagnosis was statistically compared between the MELAS with genetic confirmation (n=19, m.3243A>G mutation) and MELAS without genetic confirmation (n=12) groups. The MELAS without genetic confirmation group was used as control. Results: Comparison of PAA and UOA between the two groups revealed that no abnormal metabolites showed characteristic differences between gene-confirmed MELAS patients with and those without genetic confirmation. Conclusions: Abnormal values of metabolites in PAA or UOA might be useful as a screening test but are not sufficient to diagnose MELAS patients.

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Molecular Genetic Diagnosis of Genetic Endocrine Diseases (유전성 내분비 질환의 분자유전학적 진단)

  • Choi, Jin-Ho;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.16-23
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    • 2010
  • Many endocrine disorders have a genetic component. The genetic component is the major etiologic factor in monogenic disorders, while multiple genes in conjunction with environmental and lifestyle factors contribute to the pathogenesis in complex disorders. The development of the molecular basis of inherited endocrine diseases has undergone a dramatic evolution during the last two decades. The application of molecular technology allowed us to increase our understanding of endocrine diseases, and to impact on the practice of pediatric endocrinology related to diagnosis and genetic counseling. Identification of the mutation in the particular disease by genetic testing leads to precise diagnosis in the equivocal cases and prenatal diagnosis. However, clinicians should be cautious about determining therapeutic decisions solely on the basis of molecular studies, especially in the area of prenatal diagnosis and termination of pregnancy. This review describes an introduction to molecular basis of various inherited endocrine diseases and diagnosis by genetic testing.

Imaging Techniques and Differential Diagnosis for Inflammatory Bowel Disease (염증성 장질환의 영상기법 및 감별진단)

  • Kyoung Doo Song
    • Journal of the Korean Society of Radiology
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    • v.84 no.3
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    • pp.536-549
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    • 2023
  • The two main types of inflammatory bowel disease (IBD) are Crohn's disease and ulcerative colitis. Currently, when IBD is suspected, CT enterography is widely used as an initial imaging test because it can evaluate both the bowel wall and the outside of the bowel, helping to differentiate IBD from other diseases. When IBD is suspected, it is necessary to distinguish between Crohn's disease and ulcerative colitis. In most cases this is not difficult; however, in some cases, it is difficult and such cases are called IBD-unclassified. CT findings are often non-specific for ulcerative colitis, making it difficult to differentiate it from other diseases using imaging alone. In contrast, characteristic CT findings for Crohn's disease are often helpful in diagnosis, although diseases, such as tuberculous enteritis can mimic Crohn's disease. Recently, mutations in the gene encoding a prostaglandin transporter called SLCO2A1 have been discovered as the cause of the disease in some patients with multiple ulcers and strictures, similar to Crohn's disease. Therefore, genetic testing is being used to make a differential diagnosis.

Safety evaluation and approval status of genetically modified foods in Korea (국내 유전자변형식품 안전성 심사 규정 및 승인현황)

  • Kang, Yun-Sook
    • Food Science and Industry
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    • v.52 no.2
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    • pp.130-139
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    • 2019
  • Safety of genetically modified foods (GM foods) in Korea is evaluated according to "Food Sanitation Act" and "Regulation on safety evaluation for GM foods" based on the concept of substantial equivalence. In which cases a person who imports, develops or manufactures GM foods for the purpose of eating imports GM foods for the first time, he/she shall undergo a safety evaluation of the relevant foods, etc. by Ministry of Food and Drug Safety (MFDS). And in which cases ten years have elapsed since GM foods underwent safety evaluation, they shall be re-evaluated for their safety. As of April 2019, a total of 199 events have been approved by MFDS and they are 169 events of GM crops including soybean (29), maize (87), cotton (29), canola (14), sugar beet (1), potato (4), alfalfa (5), 6 events of GM microorganisms (GMM) and 24 events of GM food additives originated from GMM.