• 제목/요약/키워드: Genomic Distribution

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Identification of the associations between genes and quantitative traits using entropy-based kernel density estimation

  • Yee, Jaeyong;Park, Taesung;Park, Mira
    • Genomics & Informatics
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    • 제20권2호
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    • pp.17.1-17.11
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    • 2022
  • Genetic associations have been quantified using a number of statistical measures. Entropy-based mutual information may be one of the more direct ways of estimating the association, in the sense that it does not depend on the parametrization. For this purpose, both the entropy and conditional entropy of the phenotype distribution should be obtained. Quantitative traits, however, do not usually allow an exact evaluation of entropy. The estimation of entropy needs a probability density function, which can be approximated by kernel density estimation. We have investigated the proper sequence of procedures for combining the kernel density estimation and entropy estimation with a probability density function in order to calculate mutual information. Genotypes and their interactions were constructed to set the conditions for conditional entropy. Extensive simulation data created using three types of generating functions were analyzed using two different kernels as well as two types of multifactor dimensionality reduction and another probability density approximation method called m-spacing. The statistical power in terms of correct detection rates was compared. Using kernels was found to be most useful when the trait distributions were more complex than simple normal or gamma distributions. A full-scale genomic dataset was explored to identify associations using the 2-h oral glucose tolerance test results and γ-glutamyl transpeptidase levels as phenotypes. Clearly distinguishable single-nucleotide polymorphisms (SNPs) and interacting SNP pairs associated with these phenotypes were found and listed with empirical p-values.

Tissue Distribution, SNP Detection and Association Study with Immune Traits of Porcine LBP and CD14 Genes

  • Liu, H.Z.;Li, X.Y.;Liu, B.;Yu, M.;Ma, Y.H.;Chu, M.X.;Li, K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권8호
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    • pp.1080-1087
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    • 2008
  • Lipopolysaccharide binding protein (LBP) and CD14 protein play important roles in the defense against infection of Gram-negative bacteria. In the present study, tissue distribution and polymorphism of porcine LBP and CD14 genes were analyzed. Real-time PCR results showed that the porcine LBP gene was especially highly expressed in liver, while CD14 gene was highly expressed in liver and spleen tissues. A 1,732 bp cDNA fragment of porcine LBP gene and a 1,682 bp genomic DNA fragment of CD14 gene were isolated. Polymorphisms were identified in these two fragments and showed that there were 14 potential SNPs in the porcine LBP gene and 3 potential SNPs in the porcine CD14 gene. Three SNPs, 292G/A (Gly/Ser), 1168G/A (Ala/Thr) of the LBP gene and -61G/A of the CD14 gene, were genotyped using restriction fragment length polymorphism (RFLP) method. Association analyses indicated that polymorphism of the 292G/A locus was significantly associated with porcine immune traits hematocrit (HCT), IgG and delayed-type hypersensitivity (DTH) (p<0.01), and the 1168G/A locus was significantly associated with HCT and mean corpuscular volume (MCV) traits (p<0.05). No significant association was found between the -61G/A locus and immune traits of the pig. Our data indicated that the LBP gene was significantly associated with immune traits of pig. Also, we identified some SNPs which may be useful markers for disease-resistant breeding of pigs.

유전적(遺傳的) 분석법(分析法)에 의한 사상체질(四象體質)의 연구(硏究) (Study on Sasang Constitution by Genetic Analysis Using Four Short Tandem Repeat Loci)

  • 김민희;김경석;지상은;최선미;조동욱
    • 사상체질의학회지
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    • 제11권1호
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    • pp.169-183
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    • 1999
  • This study was carried out for the objectification and clinical application of the Sasang Constitutional Medicine(四象醫學). So, the Taeum Soyang, Soum groups were classified by diagnostic rules of Sasang constitution, and investigated by Amp-FLP method far genetic difference. The Amp-FLP was one of the most frequently used human genetic analysis methods which adopts STR typing. In this study, 100 genomic DNA samples of Taeum, Soyang, Soum constitution group were analysed by Amp-FLP method. Allele frequencies of four tetrameric short tandem repeat(STR) loci(TPOX, LPL, D21744, and D13S317) were determined in Taeum, Soyang, Soum groups. The heterozygosities and the polymorphism information content(PIC) values of forur STR loci were 0.812 and 0.789 in D3S1744, 0.811 in D13S317, 0.466 and 0.417 in LPL, and 0.625 and 0.561 in TPOX, respectively. The allele distribution of four STR loci was statistically evaluated. It was found out that the allele distribution of four STR loci was not significantly different among different constitutions. But all loci were found to be highly polymorphic in Taeum, Soyang, Soum groups. It was found out in this study that Taeum, Soum groups are genetically more related each other than they are related to Soyang groups.

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Phylogenetic Relationships of 3 Korean Neodiplostomum Species (Digenea: Neodiplostomidae) Based on Partial CO1 Gene

  • Pyo, Kyoung-Ho;Lee, Jo Woon Yi;Lee, Jin-Ju;Park, Yun-Kyu;Shin, Eun-Hee;Chai, Jong-Yil
    • Parasites, Hosts and Diseases
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    • 제52권3호
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    • pp.325-329
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    • 2014
  • The phylogenetic relationships of the 3 Neodiplostomum spp. (Digenea: Neodiplostomidae) occurring in Korea (N. seoulense, N. leei, and N. boryongense) were analyzed using the partial mitochondrial cytochrome c oxidase subunit 1 (CO1) gene. The adult flukes were recovered from Sprague-Dawley rats (N. seoulense) and newborn chicks (N. leei and N. boryongense) experimentally infected with the neodiplostomula from the grass snake, Rhabdophis tigrinus tigrinus. The genomic DNA was amplified using specific primers, and the sequence of CO1 was obtained. According to the results, the pairwise similarity was 96.1% between N. boryongense and N. seoulense, but was 95.0% between N. boryongense and N. leei and 94.2% between N. leei and N. seoulense. The results demonstrated a closer phylogenetic relationship between N. seoulense and N. boryongense. This high relationship of N. seoulense and N. boryongense may be related to their similar morphologic features including the limited distribution of vitellaria and the presence of a genital cone. N. leei is distinct on the other hand with an extensive distribution of vitellaria and the absence of a genital cone.

한국인 전반적 급진성 치주염 환자에서 발견된 TNF-α 유전자의 다변성 (Gene Polymorphism of TNF-α in Korean Generalized Aggressive Periodontitis)

  • 김일신
    • 디지털융복합연구
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    • 제14권1호
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    • pp.321-326
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    • 2016
  • 치주질환은 치아주위 조직에 발현된 염증성 질환이다. 전염증성 사이토카인인 $TNF-{\alpha}$는 국소적인 염증이나 전반적인 염증과 관련이 있는 것으로 알려져 있다. 본 연구의 목적은 한국인에서 TNF 유전자 다형성과 전반적 급진성 치주염 간의 관계를 알아보고자 하였다. 연구대상은 실험군이 60명, 대조군이 81명 이었다. 협측에서 DNA를 채취하여 각 제한효소를 이용한 PCR-RFLP에 의해 $TNF-{\alpha}-308$과 -238을 측정하였다. 급진성 치주염 환자에서 $TNF-{\alpha}-308$ 유전자형은 A/A 3.2%, A/G 38.7% 그리고 G/G 82.35%가 나타났으며 대조군에서는 각 9.1%, 45.5%, 45.5%로 유의한 차이를 보이는 결과이다. $TNF-{\alpha}-238$의 대립유전자 2의 빈도는 실험군에서 67.6%, 대조군에서 72.2%로 유의한 차이를 보였다. 이러한 결과에 따르면 $TNF-{\alpha}-308$과 -238의 유전자다변성은 한국인의 급진성치주염과 연관이 있을 것으로 생각된다.

유전자지문법을 이용한 사상체질의 유전적 분석 연구 (Genetic Analysis study of Sasang Constitution Classification by DNA-fingerprinting methods)

  • 조동욱;이창수;고병희;조황성
    • 사상체질의학회지
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    • 제8권2호
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    • pp.151-163
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    • 1996
  • VNTR 및 STR 분석은 유전자지문법 (DNA fingerprinting)에서 사용되는 방법으로 개체의 식별 등을 목적으로 하는 범죄수사 및 기타 유전적 분석 연구에서 많이 쓰이고 있는 유전적 분석 방법이다. 본 연구는 사상체질의 판별에 의해서 분류된 각 체질들이 유전적으로 차이가 있는지를 조사하기 위하여 각 체질인의 제놈 DNA를 대상으로 VNTR 및 STR의 분석을 실시하여서 사상체질의학의 객관화 및 그 임상활동에 관한 유용한 자료를 제공함을 목적으로 추진되었다. 본 연구에서 실시한 MCT118, YNZ22 locus를 이용한 VNTR 분석에서는 체질별로 나타난 allele의 분포 양상이 다양할 뿐만 아니라 각 체질에서 나타난 allele의 분포빈도가 체질별로 유의적인 차이를 보이지 않았다. 따라서 VNTR의 분석을 이용하여서는 사상체질의 네 가지 체질 그룹에 대한 유전적 동질성 및 그룹간 유전적 상이성을 유추해 내기가 어려운 것으로 사료되었다. 한편 allel 의 종류가 적고 따라서 그 분포 양상이 VNTR에 비해서 다양하지 않은 STR 중에서 본 연구에서는 TH01과 vWA locus에 대한 분석을 실시하였는데 그 결과 vWA locus에서는 각 allele No.의 분포 양상이 체질별로 다소 다르게 나타났다.

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No Association between Copy Number Variation of the TCRB Gene and the Risk of Autism Spectrum Disorder in the Korean Population

  • Yang, So-Young;Yim, Seon-Hee;Hu, Hae-Jin;Kim, Soon-Ae;Yoo, Hee-Jeong;Chung, Yeun-Jun
    • Genomics & Informatics
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    • 제8권2호
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    • pp.76-80
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    • 2010
  • Although autism spectrum disorder (ASD) has been thought to have a substantial genetic background, major contributing genes have yet to be identified or successfully replicated. Immunological dysfunction has been suggested to be associated with ASD, and T cell-mediated immunity was considered important for the development of ASD. In this study, we analyzed 163 ASD subjects and 97 normal controls by genomic quantitative PCR to evaluate the association between the copy number variation of the 7q34 locus, harboring the TCRB gene, and ASDs. As a result, there was no significant difference of the frequency distribution of TCRB copy numbers between ASD cases and normal controls. TCRB gene copy numbers ranged from 0 to 5 copies, and the frequency distribution of each copy number was similar between the two groups. The proportion of the individuals with <2 copies of TCRB was 52.8% (86/163) in ASD cases and 57.1% (52/91) in the control group (p=0.44). The proportion of individuals with >2 copies of TCRB was 11.7% (19/163) in ASD cases and 12.1% (11/91) in the control group (p=0.68). After the effects of sex were adjusted by logistic regression, ORs for individuals with <2 copies or >2 copies showed no significant difference compared with the diploid copy number as reference (n=2). Although we could not see the positive association, our results will be valuable information for mining ASD-associated genes and for exploring the role of T cell immunity further in the pathogenesis of ASD.

Population density and internal distribution range of Erwinia amylovora in apple tree branches

  • Mi-Hyun Lee;Yong Hwan Lee
    • 농업과학연구
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    • 제49권4호
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    • pp.881-892
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    • 2022
  • Fire blight in apple and pear orchards, caused by Erwinia amylovora, is a global problem. Ongoing outbreaks have occurred since 2015. In 2020, 744 orchards were infected compared with 43 orchards in 2015 in Korea. When are insufficient. In Korea, all host plants in infected orchards are buried deeply with lime to eradicate the E. amylovora outbreak within a few days. Apple trees with infected trunks and branches and twigs with infected leaves and infected blooms were collected from an apple orchard in Chungju, Chungbuk province, where fire blight occurred in 2020. We used these samples to investigate the population density and internal distribution of E. amylovora on infected branches and twigs during early season infections. Infected branches and twigs were cut at 10 cm intervals from the infected site, and E. amylovora was isolated from tissue lysates to measure population density (colony-forming unit [CFU]·mL-1). The polymerase chain reaction was performed on genomic DNA using E. amylovora specific primers. Real-time polymerase chain reaction (PCR) was performed to detect E. amylovora in asymptomatic tissue. The objective of these assays was to collect data relevant to the removal of branches from infected trees during early season infection. In infected branches, high densities of greater than 106 CFU·mL-1 E. amylovora were detected within 20 cm of the infected sites. Low densities ranging from 102 to 106 CFU·mL-1 E. amylovora were found in asymptomatic tissues at distances of 40 - 75 cm from an infection site.

양자암호기반의 통신망 구축 및 성능시험 검증연구 (A study on Performance Evaluation for Network Architecture using Quantum Key Distribution Technology)

  • 이원혁;석우진;박찬진;권우창;손일권;김승해;박병연
    • KNOM Review
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    • 제22권2호
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    • pp.39-47
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    • 2019
  • 과학기술연구망(KREONET)에서는 기상기후 정보, 고에너지물리, 천문연구, 위성정보데이터, 유전체 연구데이터 등의 빅데이터 중심 첨단 연구 활동을 지원을 수행하고 있다. 기존의 네트워크 보안장비들이 있는 환경에서는 성능 저하가 발생하기 때문에, 고성능 연구전용 네트워크 상에서 성능저하를 방지하고, 고속 연구협업을 위한 방안들이 연구되고 있다. 또한 최근 이슈가 되는 양자컴퓨터의 등장으로 기존 암호체계를 활용한 보안성에 위협이 되고 있다. 본 논문에서는 단대단(End-to-End)의 고속 연구전용 네트워크상에서 양자암호기반의 통신망 구축을 통하여 물리적 보안성을 강화시키는 환경구축과 고성능 전송테스트를 통하여 양자암호기반 통신망을 구성한다. 물리적 암호화 수행시에 망 성능에 미치는 영향을 분석하여, 고성능 연구협업 네트워크 구축을 위한 기초 자료로 활용하고자 한다.

Phylogenetic placement of thermophilic ammonium-tolerant bacteria and their distribution in various composts

  • Kazutaka Kuroda
    • Animal Bioscience
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    • 제36권4호
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    • pp.671-678
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    • 2023
  • Objective: Previous studies isolated the thermophilic ammonium-tolerant (TAT) bacterium Bacillus sp. TAT105 that grew in composting swine manure with the assimilation of ammonium nitrogen and reduced ammonia emissions during composting. Those studies also investigated the potential for applications of TAT105 to composting. It was observed that the concentration of TAT bacteria, phylogenetically close to TAT105, increased during composting. The objectives of this study were to identify the phylogenetic placement of these TAT bacteria and investigate their distribution in various composts. Methods: The phylogenetic placement of TAT105 was examined based on the sequence of 16S ribosomal RNA gene. The genomic DNA homology between TAT105 and the type strains of bacterial species that were phylogenetically close to TAT105 were examined by DNA-DNA hybridization. Moreover, the tolerances of these strains to NH4Cl and NaCl were analyzed using a cultivation method. Concentrations of TAT bacteria in various composts were evaluated using an agar medium specific to TAT bacteria and polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results: TAT105 was most closely related to Bacillus thermolactis and Bacillus kokeshiiformis. Many variants of these species have been detected in various environments, including composts. The type strains of these species displayed TAT characteristics that were similar to those of TAT105. Among the composts examined in this study, TAT bacteria were detected at high concentrations (105 to 109 colony forming units per gram of dry matter) in most of the composts made from cattle manure, swine manure, bark, and excess sludge. Conclusion: TAT bacteria comprised B. thermolactis, B. kokeshiiformis, and their phylogenetically close relatives. They were considered to be adaptable to composting of some certain materials, and a favorable target for searching for strains with some useful function that could be applied to composting of these materials.