• Title/Summary/Keyword: 광범위 유전자 연관 연구

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Identify Major Gene-Gene Interaction Effects Using SNPHarvester (SNPHarvester를 활용한 주요 유전자 상호작용 효과 감명)

  • Lee, Jea-Young;Kim, Dong-Chul
    • Communications for Statistical Applications and Methods
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    • v.16 no.6
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    • pp.915-923
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    • 2009
  • The gene which is related in the disease of the human has been searched among numerous genes in GWA(Genome-Wide Association) research. However, most current statistical methods used to detect gene-gene interactions in disease association studies cannot be easily applied to handle the whole genome association study(GWAS) due to heavy computing. Therefore SNPHarvester is developed to find the main gene group among numerous genes. This research finds the superior gene groups which are related with the economic traits of the Korean beef cattle, not that of human, among sets of SNPs by using SNPHarvester, and also finds the superior genotypes which can enhance various qualities of Korean beef among SNP groups.

Construction of the Aging Related Gene Database using Text-mining (서지분석을 통한 노화 관련 유전자 정보 데이터베이스 구축)

  • Yu, Seok Jong;Park, Junho;Yoo, Jaesoo
    • Proceedings of the Korea Contents Association Conference
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    • 2013.05a
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    • pp.41-42
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    • 2013
  • 최근 노령화가 급속히 진행되면서 노화에 대한 연구가 활발히 진행되고 있다. 하지만 노화현상은 광범위한 표현형을 지니고 있는 생명현상으로 이에 대한 체계적인 연구를 지원하기 위한 웹포털 사이트가 필요한 실정이다. 특히 노화에 따른 질병과의 연관성 및 관련 유전자에 대한 정보를 수집하고 이를 체계적으로 분석할 수 있는 통합정보시스템은 향후 노화연구를 지원하기 위한 가장 핵심적인 요소라고 할 수 있다. 본 연구에서는 기존 노화와 관련된 461개의 유전자를 기반으로 관련된 질병과의 연관성을 OMIM 데이터베이스를 활용하여 분석하였다. 또한 관련 단백질의 기능을 GO데이터베이스 분석을 통해 유전자의 기능을 분석하였다. Pubmed에서 제공하는 노화관련 논문들의 MeSH 정보 분석을 통해서 노화와 관련된 용어를 분석하였다. 노화와 관련된 64개의 유전자를 키워드로 NCBI의 pubmed 데이터베이스로부터 관련논문을 다운로드 받아 생물학적 상호작용 정보를 추출했다. 생물학적 상호작용은 NCBI에서 제공하는 Metamap 데이터베이스를 기반으로 각각의 생물학적 용어를 정의했다. 현재 노화 유전자 64개에 대해 128,729개의 생물학적 상호작용 정보를 추출했고, 8대 노인성만성질환에 대해 301,176개의 생물학적 상호작용 정보를 추출하였다.

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Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations (한국인과 일본인에서 1번 염색체에 부착되는 microsatellite marker의 특징)

  • Lee, You-Jin;Park, Soo-Byung
    • The korean journal of orthodontics
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    • v.34 no.6 s.107
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    • pp.537-543
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    • 2004
  • Microsatellit markers are considered to be very promising genetic markers for genetic linkage analysis. The majority of the markers are as informative as in Caucasians but there are significant ethnic differences in the genetic variations. In order to investigate the genetic variations in the Korean and Japanese populations and their ethnic differences, 51 microsatellite marker loci spanning the whole human chromosome 1 were arranged from a commercially available set (ABI PRISM Linkage Mapping Set-HD5, Applied Biosystems, Foster City, CA, USA), and then determined the allelic frequencies and heterozygosities for these marker loci in the 90 unrelated Korean subjects and 90 unrelated Japanese subjects. Of all 51 markers tested, significant differences were observed when microsatellite allele frequency pattern of Korean was compared with those of Caucasian, while this pattern was highly similar between Korean and Japanese populations. Our data indicate that an extensive verification of public microsatellite markers in a particular population study should be undertaken prior to their linkage studies. Moreover, this information should facilitate genetic linkage studies of various hereditary diseases, especially in the Koreans and Japanese.

Characterizations of the Antimicrobial Resistant Determinants in Proteus spp. Isolated from Humans and Chickens in the Chungcheong Province (충청지역의 사람과 닭으로부터 분리된 Proteus속에 속하는 균주에 존재하는 항균제 내성유전자의 유전형 분석)

  • Sung, Ji Youn
    • Korean Journal of Clinical Laboratory Science
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    • v.48 no.4
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    • pp.327-334
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    • 2016
  • Recently, antimicrobial resistance of pathogenic bacteria has been increasing due to excessive use of antimicrobial agents in both humans and livestock. PCR amplification and nucleotide sequence analyses were conducted to investigate16S ribosomal RNA methyltransferase (RMTase) genes and integrons in P. mirabilis strains isolated from clinical specimens and chickens in an area of the Chungcheong providence. In addition, clonality analysis of P. mirabilis strains was performed using a repetitive extragenic palindromic sequence-based PCR (REP-PCR) method. Of the total 38 P. mirabilis isolates, 7 (18.4%) strains were isolated from clinical specimens contained in the RMTase genes and showed resistance to amikacin, tobramycin, and gentamicin. A total of 23 (60.5%) isolates carried class 1 integrons, but no isolates in our study harbored class 2 and class 3 integrons. Class 1 integrons detected in our study harbored genes encoding resistance to aminoglycosides (aadA2, aadA5, aadA7, and aacCA5), ${\beta}$-lactams ($bla_{PSE}$), erythromycin (ereA), lincosamides (linF), and trimethoprim (dfrA12, dfrA17, and dfrA32). We confirmed that the RMTase genes had spread among only the P. mirabilis isolates from clinical specimens, but class 1 integrons had widely disseminated among P. mirabilis isolates from clinical specimens and chickens. In addition, identical REP-PCR banding patterns were evidenced in only P. mirabilis isolates from chickens. Our results suggest the horizontal spreading of P. mirabilis isolates in the chicken farm. To prevent further spreading of antimicrobial resistant genes among P. mirabilis isolates, monitoring and clinical policing will be required.

Role of Serotonin in Reproduction (생식현상에서의 세로토닌의 역할)

  • Lee, Sung-Ho
    • Development and Reproduction
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    • v.5 no.1
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    • pp.9-16
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    • 2001
  • Biogenic monoamines are divided into three categories; catecholamines(dopamine, norepinephrine, and epinephrine), indoleamine(serotonin and melatonin) and histamine. Among them, serotonin has been intensively studied by many researchers with a broad spectrum of biomedical interests. A concise overview of serotonin-related topics such as biosynthetic pathway, receptor subtypes, and roles in reproduction will be provided. In particular, serotonergic efffect on the regulation of hypothalamus-pituitary-gonad hormonal axis and sexual behaviors will be emphasized. Though our Knowledge on the biological roles and its clinical applications are still limited, these topics are quite promising subjects which will be helpful for improving our 'quality of life' in near future.

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Prognostic Value of the Expression of p53 and bcl-2 in Non-Small Cell Lung Cancer (비소세포폐암에서 p53과 bcl-2의 발현이 예후에 미치는 영향)

  • Yang, Seok-Chul;Yoon, Ho-Joo;Shin, Dong-Ho;Park, Sung-Soo;Lee, Jung-Hee;Keum, Joo-Seob;Kong, Gu;Lee, Jung-Dal
    • Tuberculosis and Respiratory Diseases
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    • v.45 no.5
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    • pp.962-974
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    • 1998
  • Background: Alteration of p53 tumor suppressor genes is most frequently identified in human neoplasms, including lung carcinoma. It is well known that bcl-2 oncoprotein protects cells from apoptosis. Recent studies have demonstrated that bcl-2 expression is associated with favorable prognosis for patients with non-small cell lung carcinoma. However, the precise biologic role of bcl-2 in the development of these tumors is still obscure. p53 and bcl-2 have important regulatory influence in the apoptotic pathway and thus their relationship is of interest in tumorigenesis, especially lung cancer. Purpose: The author investigated to know the prognostic significance of the expression of p53 and bcl-2 in radically resected non-small cell lung cancer. Method: 84 cases of formalin-fixed paraffin-embedded blocks from resected primary non-small cell lung cancer from 1980 to 1994 at Hanyang University Hospital were available for both clinical follow-up and immunohistochemical staining using monoclonal antibodies for p53 and bcl-2. Results : The histologic classification of the tumor was based on WHO criteria., and the specimens included 45 squamous cell carcinomas(53.6%), 28 adeonocarcinomas(33.3%) and 11 large cell carcinomas(13.1 %). p53 immunoreactivity was noted in 47 cases of 84 cases(56.0%). bcl-2 immunoreactivity was noted in 15 cases of 84 cases(17.9%). The mean survival duration was $64.23{\pm}10.73$ months in bcl-2 positive group and $35.28{\pm}4$. 39 months in bcl-2 negative group. The bcl-2 expression was significantly correlated with survival in radically resected non-small cell lung cancer patients(p=0.03). The mean survival duration was $34.71{\pm}6.12$ months in p53 positive group and $45.35{\pm}6.30$ months in p53 negative group(p=0.21). The p53 expression was not predictive for survival. There was no correlation between combination of the different status of p53 and bcl-2 expression in our study. Conclusions : The interaction and the regulation of new biologic markers, such as those involved in the apoptotic pathway, are complex. bcl-2 overexpression is a good prognostic factor in non-small cell lung cancer and p53 expression is not significantly associated with the prognostic factor in non-small cell lung cancer.

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A Study on Social Control and Acceptance of Science and Technology: Focusing on Biotechnology (과학기술의 사회적 통제와 수용성 연구: 생명공학을 중심으로)

  • Lee Young-Hee
    • Journal of Science and Technology Studies
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    • v.1 no.1 s.1
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    • pp.71-103
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    • 2001
  • Usually social control and acceptance of science and technology is thought to be a separate or even confronting thing. But this paper aims to go beyond this simple and dichotomous thinking. Rather, this paper argues that social control and acceptance of science and technology can be combined altogether organically. In other words, this paper argues that social control of a particular science and technology has functional effects to the acceptance of that science and technology. Social control of a particular science and technology is a signal that something is going wrong; it reallocates attention and enhances social awareness; it evaluates ongoing activity; and it alters this activity in various ways to secure a sustainable future. In order to prove this functional hypothesis, this paper tries a case study of biotechnology from a perspective of sociology of science and technology. Especially social controversies around genetically modified organisms(GMOs) and embryo cloning in Korea are analysed deeply. As a conclusion, this paper proposes some policy implications of this study.

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Transcriptome Analysis of Streptococcus mutans and Separation of Active Ingredients from the Extract of Aralia continentalis (Streptococcus mutans의 전사체 분석과 독활 추출물로부터 활성 성분 분리)

  • Hyeon-Jeong Lee;Da-Young Kang;Yun-Chae Lee;Jeong Nam Kim
    • Journal of Life Science
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    • v.33 no.7
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    • pp.538-548
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    • 2023
  • The research has been conducted on the isolation of antimicrobial compounds from plant natural extracts and their potential application in oral health care products. This study aimed to investigate the antimicrobial mechanism by analyzing the changes in gene expression of Streptococcus mutans, a major oral pathogen, in response to complex compounds extracted from Aralia continentalis and Arctii Semen using organic solvents. Transcriptome analysis (RNA-seq) revealed that both natural extracts commonly upregulated or downregulated the expression of various genes associated with different metabolic and physiological activities. Three genes (SMU_1584c, SMU_2133c, SMU_921), particularly SMU_921 (rcrR), known as a transcription activator of two sugar phosphotransferase systems (PTS) involved in sugar transport and biofilm formation, exhibited consistent high expression levels. Additionally, component analysis of the A. continentalis extract was performed to compare its effects on gene expression changes with the A. Semen extract, and two active compounds were identified through gas chromatography-mass spectrometry (GC-MS) analysis of the active fraction. The n-hexane fraction (ACEH) from the A. continentalis extract exhibited antibacterial specificity against S. mutans, leading to a significant reduction in the viable cell counts of Streptococcus sanguinis and Streptococcus gordonii among the tested multi-species bacterial communities. These findings suggest the broad-spectrum antibacterial activity of the A. continentalis extract and provide essential foundational data for the development of customized antimicrobial materials by elucidating the antibacterial mechanism of the identified active compounds.

Intercellular Adhesion Molecule-1 Gene Polymorphism (K469E) in Korean Preeclamptic Women

  • Lim, Ji-Hyae;Park, So-Yeon;Kim, Shin-Young;Lee, Moon-Hee;Yang, Jae-Hyug;Kim, Moon-Young;Park, Hyun-Young;Lee, Kwang-Soo;Kim, Young-Ju;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.105-110
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    • 2008
  • Purpose: Preecalmpsia is a pregnancy-specific disorder that reflects widespread endothelial dysfunction resulting from increases of adhesion molecule expression. Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenetic mechanisms responsible for preeclampsia, and ICAM-1 plasma levels and/or function is genetically influenced. Therefore, we evaluated the distribution of ICAM-1 gene K469E polymorphism in pregnant Korean women with preeclampsia and evaluated the association between this polymorphism and preeclampsia. Methods: The K469E polymorphism was analyzed in peripheral blood samples from 197 preeclamptic pregnancies and 193 normotensive pregnancies by a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypic and allelic frequencies of ICAM-1 gene polymorphism (K469E) did not differ between preeclamptic and normotensive pregnancies. The distributions of the KK, KE, and EE genotypes were 40.6%, 43.7%, and 15.7%, respectively, in preeclamptic pregnancies and 38.9%, 45.1%, and 16.1%, respectively, in normotensive pregnancies. The frequencies of K and E alleles were 0.62 and 0.38, respectively, in preeclamptic pregnancies and 0.61 and 0.39, respectively, in normotensive pregnancies. By multiple logistic regression analysis, there was no increased risk of preeclampsia in subjects with ICAM-1 KE (OR, 1.08; P=0.74) or EE (OR, 1.07; P=0.88) genotypes. Conclusion: This study suggests that the ICAM-1 gene K469E polymorphism does not associate with an increased risk of preeclampsia in pregnant Korean women.

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Global DNA Methylation Patterns and Gene Expression Associated with Obesity-Susceptibility in Offspring of Pregnant Sprague-Dawley Rats Exposed to BDE-47 and BDE-209 (임신 중 BDE-47 및 BDE-209에 노출된 어미와 새끼 Sprague-Dawley 랫드의 Global DNA 메틸화 양상과 비만 감수성과 연관된 유전자 발현)

  • Park, Byeong-Min;Yoon, Ok-Jin;Lee, Do-Hoon
    • Korean Journal of Clinical Laboratory Science
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    • v.49 no.1
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    • pp.28-39
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    • 2017
  • Persistent organic pollutants (POPs) can affect epigenetic mechanisms and obesity development. Polybrominated diphenyl ethers (PBDEs)-widely used to make flames-are one of the important POPs. Prenatal exposure to endocrine disrupting chemicals (EDCs), such as POPs, may affect global DNA methylation in long interspersed nuclear elements (LINE-1), increasing the risk of obesity later in life. Therefore, pregnant Sprague-Dawley (SD) rats were used to elucidate whether BDE-47 and BDE-209 transferred through placenta and breast milk cause epigenetic changes in LINE-1 and increase genetic susceptibility to obesity as obesogen during the developmental periods. Global DNA methylation in LINE-1 and gene expression related to obesity were measured in dams and offspring, using a methylation-sensitive high resolution melting analysis (MS-HRM) and direct bisulfite sequencing and quantitative real time polymerase chain reaction (qPCR), respectively. The results of MS-HRM showed global DNA hypomethylation patterns in LINE-1 of exposed offspring (2 of total 4) at PND 4, but bisulfite sequencing showed no difference in both the exposed and non-exposed groups. Gene expression in dams related to ${\beta}$-oxidation pathway and those related to adipokines showed different patterns between the two groups. On the contrary, gene expressions of offspring showed a similar pattern. Gene expressions related to ${\beta}$-oxidation pathway and obesity were significantly increased when compared with 'at birth', but not $PPAR-{\alpha}$. In conclusion, this study demonstrated the possibility that co-exposure to BDE-47 and BDE-209-via the placenta and breast milk-may affect epigenetic changes and modulate gene expression levels related to obesity.