• Title/Summary/Keyword: 유전적 상관관계

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Clinical Evaluation of Nephrotic Syndrome Manifesting in the First Year of Life (1세 이하의 소아에서 발병한 신증후군의 임상적 고찰)

  • Cho, Sung-Hee;Lee, Joo-Hoon;Cho, Young-Mi;Park, Young-Seo;Cheong, Hae-Il
    • Childhood Kidney Diseases
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    • v.13 no.2
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    • pp.161-169
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    • 2009
  • Purpose : This study was performed to report the diagnosis and treatment of nephrotic syndrome manifesting in the first year of life. Methods : We retrospectively reviewed the clinical data with chart review in 7 patients who were diagnosed as nephrotic syndrome manifesting in the first year of life from 1996 to 2007. Results : Three patients had congenital nephrotic syndrome, the other 4 patients had infantile nephrotic syndrome. Their ages ranged from birth to 11 months and male to female ratio was 1 to 6. Renal biopsies were done in 6 patients. One patient had Finnish type congenital nephrotic syndrome, 2 patients had diffuse mesangial sclerosis, 2 patients had focal segmental glomerulosclerosis and 1 patient had minimal change disease. Genetic analyses of NPHS2, PLCE1, and WT1 were done in 4 patients and 2 of them had WT1 mutation. Among 3 patients with congenital nephrotic syndrome, 1 patient was diagnosed as congenital nephrotic syndrome of Finnish type and the other 2 patients were diagnosed as Denys-Drash syndrome. All of the patients with congenital nephrotic syndrome died due to sepsis. Among 4 patients with infantile nephrotic syndrome, 2 patients died and 1 had remission, another patient progressed to end stage renal disease. Conclusion : Most of nephrotic syndrome manifesting in the first year was hereditary renal disease. Patients with nephrotic syndrome manifesting in the 3 month of life had poorer prognosis and needed more aggressive management including early dialysis and renal transplantation might be considered compared with infantile nephrotic syndrome. Further genotype-phenotype correlation studies are needed.

Interactions between Human Endogenous Retrovirus (HERV) and Human Immunodeficiency Virus (HIV) (인간 내성 리트로 바이러스(HERV)와 인간 면역 결핍 바이러스(HIV)의 상관관계)

  • Ock, Mee Sun;Kim, Heui-Soo;Cha, Hee-Jae
    • Journal of Life Science
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    • v.25 no.4
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    • pp.481-485
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    • 2015
  • Retroviruses genes have been inserted into the human genome for millions of years. These retroviruses are now inactive due to mutations such as deletions or nonsense mutations. After mutation, retroviruses eventually became fixed in the genome in their endogenous forms and existed as traces of ancient viruses. These retroviruses are called endogenous retroviruses (ERVs), with the human form known as human endogenous retrovirus. HERV cannot become a fully active virus, but a number of viral proteins or even virus particles are expressed under various conditions. Compared to endogenous retroviruses, some exogenous retroviruses are still infectious and can threaten human life. Among these, human immunodeficiency virus (HIV) is one of the most well-known and best-studied. Recent studies have shown some elements of HERV were activated by HIV infection and interact with HIV-derived proteins. In addition, many studies have attempted to use HERV as vaccination against HIV infection. This review will describe the regulation and interaction between HERV and HIV infection and mention the development of vaccines and therapeutic agents against HIV infection by using HERV elements.

Regulation of Chicken FABP4 Transcription by Toll-Like Receptor 3 Activation in DF-1 Cells

  • Jae Rung So;Sujung Kim;Ki-Duk Song
    • Korean Journal of Poultry Science
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    • v.50 no.4
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    • pp.283-291
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    • 2023
  • Long-chain fatty acids (LCFAs) are vital in cellular compartments, primarily regulating lipid metabolism. Fatty Acid-Binding Proteins (FABPs) facilitate LCFA transport, lipid synthesis, storage, and act as signaling molecules influencing various pathways, including inflammation. FABP4, in particular, is linked to vascular and cardio-related diseases, and it plays a role in macrophage-mediated inflammatory responses. Previous studies have identified FABP4 as not only a representative biomarker for lipogenesis but also as having correlations with immune responses. This study aims to investigate the regulation of the chicken FABP4 (chFABP4) gene by toll-like receptor 3 (TLR3) activation and determine the signaling pathways that are involved in chFABP4 transcriptional regulation. We analyzed the transcriptional regulation of chFABP4 in TLR3-stimulated DF-1 cells. The results showed that chFABP4 was up-regulated upon stimulation with polyinosinic-polycytidylic acid (PIC), a TLR3 ligand. Notably, chFABP4 transcription was independently regulated in the NF-κB signaling pathway. It was up-regulated in p38 inhibition, demonstrating that the p38 signaling pathway might suppress the transcription of chFABP4 within TLR3-activated DF-1 cells. In contrast, chFABP4 expression was down-regulated in JNK signaling pathway inhibition, suggesting the positive regulation of JNK signaling pathway for chFABP4 transcription in DF-1 cells in response to TLR3 activation, consistent with findings in macrophages. MEK pathway inhibition resulted in a similar regulation to NF-κB signaling. These results suggest that each MAPK contributes differentially to the transcriptional regulation of chFABP4 by in DF-1 cells in response to TLR3 activation.

Molecular Epidemiological Characteristics of Vibrio Parahaemolyticus as Recently wilde-spreaded in Korea (최근 한국에서 유행하는 장염비브리오균의 분자 역학적 특성)

  • 김상숙;이희무;이중복
    • KSBB Journal
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    • v.18 no.6
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    • pp.522-528
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    • 2003
  • The purpose of this study is to inquire into molecular epidemiological characteristics of Vibrio parahaemolyticus. For this study, 120 strains(120 strains of Vibrio parahaemolyticus sampled from diarrhea patients) were examined and analyzed for biochemical characteristics, TDH (thermostable direct hemolysin) antibiotics sensitivity and detection of toxR, gyrE, tdh, and tds gents. G-S PCR (Group Specific Polymerase), PFGE (Pulsed-field Gel Electrophoriesis) methods were performed on the materials from patients were results. 1 Vibrio parahaemolyticus didn't grow in 0% density of NaCl, but the fact was found that those grew in 8% density of NaCl. 2. O:K serotypes of Vibrio parahaemolyticus was turned up in domestic patients was 17 types. Among those O3:K6 was the most, it was 68.3%. 3. In 18 kinds of antibiotic tests resistant against Ampicillin, Ticacillin was comparatively high. the case of resistant against Ampicillin, Ticacillin, Vancomycin at the multiple resistant was 52.5%. 4. Toxin gene tdh had only 109 strains among 120 ones isolated from patients held the genes of 199bp size, and 11 strains was negativity 5. In the test of Kanagawa toxic productivity, 107 strains among strains isolated from patients appeared to be positivity reaction 6. The strain that held trh toxin was only 3, and those among test strains had the genes of 250bp size and that had tdh, trh genes at a time were 3 strains, and TDH toxic productivity of those were 16 times, and it was weak. 7. Group Specific-PCR appeared to be useful in the confirmation of O3:K6 serotype interrelations. 8. Three strains which showed difference of 7 DNA sequence even in the same serotype were detected by the result of analyzing the regular gene, toxRS DNA sequence. These strains are differ from general strains which carry infection easily. 9. These mutual dose epidemiological relations were classified into smaller-parts through PFGE method. As a result of such classify, 3 findings were found. V. parahaemolyticus sampled from diarrhea patients were classified into 3 types. And third, the result obtained through PFGE method can be used as a useful tool in a point of molecular-epidemiological view.

Effects of β3-Adrenergic Receptor Polymorphism on the Hyperglycemia in Korean Subjects (베타 3-아드레날린 수용체의 유전자형이 고혈당증 유발에 미치는 영향)

  • 오현희;최선미;양현성;김길수;윤유식
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.33 no.1
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    • pp.83-90
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    • 2004
  • This study was conducted to examine the effects of $\beta$3-adrenergic receptor polymorphism on the blood glucose level and obesity in 530 volunteers, who attended a weight loss program in a local obesity clinic. The age differences in total subjects and the distribution of male and female were 26.55$\pm$0.31 yr, 9.1% (n=48), 90.9% (n=492). The genotype distribution of $\beta$3-AR gene polymorphism were WW type 75%, WR type 22% and RR type 3%. Among many parameters, fasting blood glucose was significantly higher in WR+RR type (p=0.001) compared with WW type. When the subjects were divided into two groups by 6.105 mmol/L of the fasting blood glucose level, the frequency of hyperglycemia was 23.3% in WW type subjects, while there was a increase to 35.6% in WR+RR type subjects (p=0.011, $\chi$$^2$-analysis). When hyperglycemia group was compared with normoglycemia group, obesity index (p=0.044), %body fat (p=0.046) and TG (p=0.000) were significantly higher, and HDL (p=0.006) was significantly lower in the hyperglycemia. When all of the above factors were included in stepwise logistic regression analysis to find risk factors of hyperglycemia, the results were that the odds ratio for hyperglycemia were 2.015 (p=0.011) for WR+RR type of $\beta$3-AR gene, 2.165 (p=0.000) for TG and 0.419 (p=0.059) for HDL cholesterol. There was a significantly positive correlation between the blood glucose vs BMI, WHR, body fat in the WW type (r=0.099, 0.119, 0.082) However, in the WR and RR type there were no significance between the blood glucose vs BMI, WHR, body fat. These data suggest that the WR+RR genotype of $\beta$3-AR has a very strong association with increased blood glucose level and might be a significant risk factor for hyperglycemia among Korean subjects.

Correlation between Growth Characteristics and Root Yield in Collected Peony Lines (수집작약(蒐集芍藥)의 생육특성(生育特性)과 뿌리 수량(收量)과의 관계(關係))

  • Kim, Jae-Chul;Kim, Jeong-Hye;Kim, Ki-Jae;Ryu, Joung-Ki;Park, So-Deuk;You, Oh-Jong
    • Korean Journal of Medicinal Crop Science
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    • v.6 no.3
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    • pp.188-192
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    • 1998
  • The correlations between growth charateristics and root yield were investigated in 74 peony lines collected from chief producing place in Korea. Among these peony lines, single flower type was 61% and the rest were double type. And pink flower was in majority. Stem length, stem diameter and number of stem per plant were $50{\sim}60cm$, $7{\sim}8mm$ and $5{\sim}6$, respectively. Generally, disease tolerance and root yield were better in single flower type peonies than double type. Among single flower type peonies, the correlation coefficients between each characteristics and root yield were as follows : number of stem $(0.676^{**})$, number of roots $(0.646^{**})$, stem length $(0.617^{**})$, root diameter $(0.590^{**})$ and root length $(0.443^{**})$. Correlation between root yield and paeoniflorin content was highly significant $(0.383^{**})$ among single flower type peonies and significant $(-0.382^*)$ among double flower type peonies. Correlation between stem diameter and root yield was not significant (0.066).

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Interrelationships and Path Coefficients of Pericarp Characters in Red Pepper(Capsicum annuum L.) (고추 과육중(果肉重) 구성형질(構成形質)의 상관(相關)과 경로계수분석(經路係數分析))

  • Kim, Yang Choon;Park, Gyu Hwan;Choi, Soon Ho
    • Current Research on Agriculture and Life Sciences
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    • v.2
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    • pp.9-14
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    • 1984
  • This study was performed to obtain the effective selection informations for improvement of quality and increase of yield in red pepper. The eight parents and twenty eight crosses from partial diallel were used as materials for estimation of correlations among the pericarp characters, viz, fruit length, fruit width, pericarp thickness (fresh and dry) and pericarp weight (fresh and dry), between pericarp weight and seed weight and between pericarp weight and the percent of seed weight/pericarp weight and path coefficients on fresh and dry pericarp weight. Results were as follows. In $F_1s$, fresh and dry pericarp weight had positive correlations with fruit length, fruit width, and pericarp thickness. Fresh pericarp weight was also positively correlated with dry pericarp weight. Dry pericarp thickness had a negative correlation with fruit length but had positive correlations with fruit width and fresh pericarp thickness. Fresh pericarp thickness had a positive correlation with fruit width. Significantly positive correlations between $F_1s$ and mid-parents were observed in pericarp characters. Pericarp weight had a positive correlation with seed weight but had a negative correlation with the percent of seed weight/pericarp weight. In path coefficient analysis, it was found that fruit length, fruit width and pericarp thickness had direct effects on fresh and dry pericarp weight and that fruit length had the largest direct effect in $F_1s$.

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Association between the Human Surfactant Protein-A(SP-A) Gene Locus and Chronic Obstructive Pulmonary Disease in Korean Population (한국인에서 만성폐쇄성폐질환과 인체 폐 표면 활성제 단백-A 유전자 대립형질의 상관관계)

  • Na, Joo Ock;Oh, Myung Ho;Choi, Jae Sung;Seo, Ki Hyun;Kim, Yong Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.60 no.6
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    • pp.638-644
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    • 2006
  • Backgrounds: This study investigated whether or not a polymorphism in the gene encoding the surfactant protein A(SP-A) has any bearing on the individual susceptibility to the development of chronic obstructive pulmonary disease(COPD) in a genetically homogenous Korean population. Methods: The genotypes of 19 COPD patients and 20 healthy neonates as controls were tested using a polymerase chain reaction followed by restriction fragment length polymorphism analysis for the SP-A gene. Results: The specific frequencies of the 6A2 and 6A18 alleles of SP-A1 and the 1A2 allele of SP-A2 were much higher in the COPD group than control group (p<0.05). However, the frequencies of the 6A3 and 6A4 alleles of SP-A1 and the 1A0 allele of SP-A2 in the COPD group were significantly lower than the control group. In the COPD group, the frequencies of the +50 locus genotypes GG of SP-A1 and the +9 locus genotypes CC of SP-A2 were 85.0% and 60.6%, respectively, and 19.7% and 24.8% in the control group, respectively. The frequencies of the polymorphic genotypes or alleles showed a statistically significant difference between the COPD group and the control group (P<0.05). Conclusion: A genetic polymorphism in SP-A is associated with the development of COPD in the Korean population.

Protein and Arabinoxylan Contents of Whole Grains from Wheat Genetic Resources Cultivated in Korea (국내에서 재배된 밀 유전자원의 통밀에서 단백질 및 아라비노자일란 함량 분석)

  • Yang, Jinwoo;Park, Jinhee;Son, Jae-Han;Kim, Kyeong-Hoon;Kim, Kyeong-Min;Jeong, Han-Yong;Kang, Chon-Sick;Son, Ji-Young;Park, Tae-Il;Choi, Changhyun
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.66 no.1
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    • pp.29-36
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    • 2021
  • Recently, phytochemicals in whole grains have received increasing attention because the increased consumption of whole grains and whole grain products has been associated with a reduced risk of chronic diseases. Among the phytochemicals in whole wheat, arabinoxylan influences various physiological activities and can aid the treatment of numerous health conditions, either directly or indirectly. In this study, 614 wheat germplasms, collected from the world, were cultivated in 2018 and harvested in 2019 in South Korea. The qualities of these whole grains, including seed protein content, were evaluated using the NIR spectrophotometric method, and arabinoxylan content was determined using enzymatic methods. The ash content was 0.36 to 2.80% and protein content was 7.66 to 20. The SDS-sedimentation for gluten complex ability ranged from 26.85 to 80.63 mL, and protein content showed a high correlation with SDS-sedimentation in the germplasms. Verify the result of the enzymatic method of arabinoxylan, the reliability of the experimental method was determined through repeatability, reproducibility, and recovery. The average value of the 614 resources was 51.64 mg/g of whole grain, and when classified according to the country of origin, the South Korean origin resources tended to have a higher content compared to the genetic resources of other countries. These results are expected to be used as basic data for setting standards for whole grain quality in wheat breeding systems.

Application of Enzymatic Activity and Arsenic Respiratory Gene Quantification to Evaluate the Ecological Functional State of Stabilized Soils Nearby Closed Mines (안정화 처리된 폐광산 토양의 생태기능상태 평가를 위한 효소활성도 및 비소호흡유전자의 적용)

  • Park, Jae Eun;Lee, Byung-Tae;Lee, Sang Woo;Kim, Soon-Oh;Son, Ahjeong
    • Journal of Korean Society of Environmental Engineers
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    • v.39 no.5
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    • pp.265-276
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    • 2017
  • Heavy metals leaching from closed mines have been causing severe environmental problems in nearby soil ecosystems. Mine reclamation in Korea has been recently implemented based on the heavy metal immobilization (a.k.a., stabilization). Since the immobilization temporarily fixes the heavy metals to the soil matrix, the potential risk of heavy metal leaching still exists. Therefore the appropriate monitoring and the related policies are required to safeguard the soils, where all the cultivations occur. The current monitoring methods are based on either heavy metal concentration or simple toxicity test. Those methods, however, are fragmented and hence it is difficult to evaluate the site in an integrated manner. In this study, as the integrated approach, ecological functional state evaluation with a multivariate statistical tool was employed targeting physiochemical soil properties, heavy metal concentrations, microbial enzymatic activity, and arsenic respiratory reductase gene quantity. Total 60 soil samples obtained from three mines (Pungjeong, Jeomdong, Seosung) were analyzed. As a result, the stabilized layer soil and lower layer soil have shown the similar pattern in Pungjeong mine. In contrast, Jeomdong and Seosung mine have shown the similarity between the stabilized layer soil and the cover layer soil, indicating the possible contamination of the cover layer soil.