• Title/Summary/Keyword: 단일유전자

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The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease (가와사키병의 관상동맥 이상과 catechol-O-methyltransferase 유전자의 단일염기다형성)

  • Lee, Hyo Jin;Lee, Myung Sook;Kim, Ji Sook;Kim, Eun Ryoung;Kang, Sung Wook;Kim, Soo Kang;Chung, Joo Ho;Yoon, Kyung Lim;Han, Mi Young;Cha, Seong Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.87-92
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    • 2009
  • Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

Expression of the Genes Involved in the Synthesis of Riboflavin from Photobacterium species of Bioluminescent Marine Bacteria (해양 발광 박테리아 Photobacterium Species의 Riboflavin 생합성에 관여하는 유전자들의 발현)

  • 이찬용
    • Korean Journal of Microbiology
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    • v.36 no.1
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    • pp.1-7
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    • 2000
  • The genes involved in riboflavin synthesis (ribI, II, III, and IV) were found immediately downstream of luxG in the lux operon from Photobacterium species. The single stranded DNA containing the intergenic region of lux genes and rib genes from Photobacterium phosphoreum was fully protected by P. phosphoreum mRNA from the S1 nuclease mapping assay suggesting that a transcriptional terminator was not present in the region. In addition, the levels of riboflavin synthase activity in P. phosphoreum was increased during the development of bacterial bioluminescence in the same fashion as the luciferase and fatty acid reductase activities. Insertion of the Photobacterium leiognathi DNA extending from luxB to ribII, between a strong lux promoter and a reporter gene (chloramphenicol acetyltransferase, CAT) and transferred by conjugation into P. leiognathi, did not affect expression of reporter gene. Moreover the CAT gene was not expressed in an analogous construct missing the lux promoter indicating that a promoter was not present in this region. Based on the data here, it can be concluded that the lux genes and rib genes in Photobacterium species are under common regulation.

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An Effetive Image Restoration using Genetic Algorithm and Wavelet Transform (유전자 알고리즘과 웨이브릿 변환을 이용한 효율적인 영상복원)

  • 김은영;안주원;문영득
    • Proceedings of the IEEK Conference
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    • 2000.09a
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    • pp.345-348
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    • 2000
  • 본 논문에서는 웨이브릿 변환과 유전자 알고리즘을 이용한 하이브리드 영상복원 방법을 제안한다. 제안한 방법은 영상복원을 위한 전처리로써 분해 및 합성 필터의 이상적인 직교 특성을 가지는 웨이브릿 변환을 이용하여 잡음훼손영상으로부터 고주파성 잡음의 일부를 우선 제거하고 나머지 영상에 대해서는 국부적 최적해로의 고립을 벗어나 전역해 탐색이 가능한 유전자 알고리즘을 적용한다 제안한 하이브리드 방법의 성능평가를 위하여 이진 문자영상과 Lenna 영상을 입력영상으로 인가하여 기존의 단일 유전자 알고리듬을 이용한 방법과 비교실험을 수행하였다. 실험결과 제안한 하이브리드 영상 복원방법이 기존의 방법에 비하여 약 2dB 향상됨으로써 잡음훼손영상의 복원성능이 우수함을 확인하였다.

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Single Nucleotide Polymorphism Analysis of the COI Gene in Korean Native Chicken (한국재래닭 COI 유전자의 단일염기다형 분석)

  • Jin, S.D.;Seo, D.W.;Sim, J.M.;Baek, W.K.;Jung, K.C.;Jang, B.K.;Choi, K.D.;Lee, J.H.
    • Korean Journal of Poultry Science
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    • v.36 no.1
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    • pp.85-88
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    • 2009
  • One of the mitochondrial genes, called cytochrome c oxidase I (COI), has been widely used for the species identification (called bio-barcode) in birds. In this study, the bio-barcode has been applied to chicken breeds in Korea whether it also can be used as a molecular marker for breed identification. Data indicated that Korean native chicken has the mixed SNP (single nucleotide polymorphism) patterns between White Leghorn (Layer) and Cornish (Broiler) and ultimately, it can not be used as the marker for breed identification. However, this result indicates the mixed use of the Korean native chicken, since it has been used for dual purpose for producing meat and egg for a long time. In order to use as a marker for species identification, more reliable mitochondrial and/or nuclear DNA markers need to be developed.

Cluster Analysis of SNPs with Entropy Distance and Prediction of Asthma Type Using SVM (엔트로피 거리와 SVM를 이용한 SNP 군집분석과 천식 유형 예측)

  • Lee, Jung-Seob;Shin, Ki-Seob;Wee, Kyu-Bum
    • The KIPS Transactions:PartB
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    • v.18B no.2
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    • pp.67-72
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    • 2011
  • Single nucleotide polymorphisms (SNPs) are a very important tool for the study of human genome structure. Cluster analysis of the large amount of gene expression data is useful for identifying biologically relevant groups of genes and for generating networks of gene-gene interactions. In this paper we compared the clusters of SNPs within asthma group and normal control group obtained by using hierarchical cluster analysis method with entropy distance. It appears that the 5-cluster collections of the two groups are significantly different. We searched the best set of SNPs that are useful for diagnosing the two types of asthma using representative SNPs of the clusters of the asthma group. Here support vector machines are used to evaluate the prediction accuracy of the selected combinations. The best combination model turns out to be the five-locus SNPs including one on the gene ALOX12 and their accuracy in predicting aspirin tolerant asthma disease risk among asthmatic patients is 66.41%.

Genetic association study of single nucleotide polymorphism in dentistry (단일염기다형성을 이용한 치과 질환 유전체 연구)

  • Kim, Jee-Hwan;Lee, Jae-Hoon
    • The Journal of Korean Academy of Prosthodontics
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    • v.49 no.4
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    • pp.341-345
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    • 2011
  • Genetic association study has been progressed in medicine along with advance in genetic technology. It focused on the individual differences in genotype due to errors occurring during DNA duplication, which can cause vulnerability to specific diseases. Polymorphism defines the varieties in phenotype due to those genetic variations. Polymorphism due to change in one DNA base sequence is called as a Single Nucleotide Polymorphism. In the near future, the evaluation of relative risk to specific disease according to SNP will be essential part of fundamental of medicine for the diagnosis, treatment and prevention. Dental caries and periodontal diseases has been first subject to genetic association study in dentistry and broaden out to other areas like bone formation and resorption. This article presents the current state of genetic association study and its application to dentistry.

Development of Combination Runoff Model Applied by Genetic Algorithm (유전자 알고리즘을 적용한 혼합유출모형의 개발)

  • Shim, Seok-Ku;Koo, Bo-Young;Ahn, Tae-Jin
    • Journal of Korea Water Resources Association
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    • v.42 no.3
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    • pp.201-212
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    • 2009
  • The Tank model and the PRMS(Precipitation Runoff Modeling-modular System) model have been adopted to simulate runoff data from 1981 to 2001 year in the Seomgin-dam basin. However, the simulated runoff by each single model showed some deviations compared with the observed runoff, respectively. In this study a genetic algorithm combination runoff model has been proposed to minimize deviations between simulated runoff and observed runoff that should yield from single model such as Tank model or PRMS model. The proposed combination runoff model combining the simulated respective output of the Tank model and the PRMS model is to produce the optimum combination ratio of each single model applying to the genetic algorithm which may yield the minimum deviations between simulated runoff and observed one. The proposed combination runoff model has been applied to the Seomgin-dam basin. It has also been shown that the combination model by introducing optimal combination ratio should yield less deviations than single model such as the Tank model or the PRMS model.

Polymorphisms of tumor necrosis factor-alpha promotor gene in Kawasaki disease and relation to the risk of coronary artery lesion (가와사키병에서의 TNF-alpha 유전자의 다형성 및 관상동맥 합병증과의 연관성)

  • Kim, Se-hwa;Yun, Jang-won;Lee, Young-hyuk;Cheon, Eun-jung
    • Clinical and Experimental Pediatrics
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    • v.52 no.4
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    • pp.476-480
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    • 2009
  • Purpose : The purpose of this study was to investigate the polymorphisms of the TNF-alpha promotor gene, its susceptibility to Kawasaki disease (KD) and to assess whether the TNF-alpha promotor gene polymorphism was related the risk of coronary artery lesions (CALs). Methods : From January 2003 to January 2007, 51 children (30 boys and 21 girls) with KD and 48 children forming an age-matched control group were studied. DNA from the peripheral blood of all the children was sampled, and the DNA polymorphisms of the 5' flanking regions of the TNF-alpha promoter gene at position -308 [guanine (G) to adenine (A)] were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Then, the relationship between KD and the TNF-alpha promotor gene polymorphisms was evaluated. Results : The A allele frequency of the -308 site of the TNF-alpha promotor gene was 17.6% (9/51) for children with KD and 6.8% (3/48) for the control group children, but this result was not statistically significant. Twenty-four patients experienced CALs within 60 days after the onset of symptoms. KD children with TNF-alpha -308 A allele had lower frequencies of CALs (12.5% versus 22.2%, P>0.05). Conclusion : The DNA polymorphism of the -308 site TNF-alpha gene was not associated with susceptibility to KD and a risk of CALs. Multicenter, large-scale randomized controlled trials are needed for further study.

Association between polymorphism of ALK receptor tyrosine kinase(ALK) gene and risk of intracerebral hemorrhage (ALK 유전자 다형성과 뇌출혈과의 상관성 연구)

  • Kim, Su-Kang
    • Journal of Internet of Things and Convergence
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    • v.4 no.2
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    • pp.21-28
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    • 2018
  • I investigated that ALK receptor tyrosine kinase (ALK) gene polymorphisms were contributed to susceptibility to ICH in Korean population. I recruited 156 ICH patients and 425 healthy controls for this study, respectively. rs1881421, rs1881420, rs3795850, and rs2246745 single nucleotide polymorphisms (SNPs) were genotyped. The genotype and allele distributions of tested four SNPs was analyzed using the SNPStats, SPSS 22.0, and the Haploview v.4.2 software. The Odd's ratios (OR), 95% confidence intervals (CI), and P values were calculated in allele and genotype models. I found that rs1881421, rs1881420, rs3795850, and rs2246745 SNPs of ALK gene (rs1881421, OR=2.02, 95% CI=1.54-2.64, p<0.001; rs1881420, OR=0.53, 95% CI=1.16-2.01, p=0.003; rs3795850, OR=1.54, 95% CI=1.17-2.02, p=0.002; rs2246745, OR=1.95, 95% CI=1.46-2.60, p<0.001 in each allele analysis). And distributions of CC, GT, and GC haplotypes between the ICH group and the control group also showed significant association with ICH (CC haplotype, p<0.001; GT haplotype, p=0.006; GC haplotype, p<0.001). These minor alleles of tested four SNPs in ALK gene were contributed to increased risk of development for ICH. Our findings suggested that the ALK gene may be a risk factor for susceptibility to ICH.The Korea Internet of Things Society.