• Title/Summary/Keyword: genome project

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Clinical evaluation of full mouth disinfection therapy (Full mouth disinfection therapy의 단기간 임상 효과 연구)

  • Cho, Ik-Hyun;Jung, Ui-Won;Cha, Jeong-Heon;Kim, Joong-Su;Lee, Dae-Sil;Kim, Chang-Seong;Kim, Chong-Kwan;Choi, Seong-Ho
    • Journal of Periodontal and Implant Science
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    • v.35 no.3
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    • pp.597-608
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    • 2005
  • The aim of this study is to determine whether full-mouth disinfection therapy(FMT) in our clinical setting would show better improvement of clinical parameters than partial mouth disinfection therapy(PMT) in chronic periodontitis and aggressive periodontitis patients. Among 12 patients, 6 were treated FMT and other 6 were treated PMT. Clinical parameters were calculated 3 months and 6 months after initial therapy. 1. There were no statistically significant differences between FMT and PMT in the reduction rate of bleeding on probing after 3 months, 6 months 2. Initial probing depth was 4-6mm, the mean probing depth after 3 months was 2.2mm vs 2.5mm(FMT vs PMT), after 6 months was 2.4mm vs 2.8mm. This was significantly lower in the FMT groups. 3. Initial probing depth was ${\geqq}$ 7mm, the reduction rate of mean probing depth during first 3 months was 4.8mm vs 4.1mm(FMT vs PMT), and 3 to 6 months was 0.5mm vs 0.3mm. This was significantly larger in the FMT groups. 4. Initial probing depth was 4-6mm, the mean clinical attachment level after 3 months was 2.3mm vs 2.7mm(FMT vs PMT), after 6 months was 2.7mm vs 3.0mm. This was significantly lower in the FMT groups. 5. Initial probing depth was ${\geqq}$ 7mm, the reduction rate of mean probing depth during first 3 months was 4.0mm vs 3.0mm(FMT vs PMT), and 3 to 6 months was 0mm vs -0.1mm. This was significantly larger in the FMT groups. Although the results provided us with succeccful clinical improvement in aggressive periodontitis, further research is needed to prove its additional benefit in the treatment of chronic periodontitis

Effects of flaC Mutation on Stringent Response-Mediated Bacterial Growth, Toxin Production, and Motility in Vibrio cholerae

  • Kim, Hwa Young;Yu, Sang-Mi;Jeong, Sang Chul;Yoon, Sang Sun;Oh, Young Taek
    • Journal of Microbiology and Biotechnology
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    • v.28 no.5
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    • pp.816-820
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    • 2018
  • The stringent response (SR), which is activated by accumulation of (p)ppGpp under conditions of growth-inhibiting stresses, plays an important role on growth and virulence in Vibrio cholerae. Herein, we carried out a genome-wide screen using transposon random mutagenesis to identify genes controlled by SR in a (p)ppGpp-overproducing mutant strain. One of the identified SR target genes was flaC encoding flagellin. Genetic studies using flaC and SR mutants demonstrated that FlaC was involved in bacterial growth, toxin production, and normal flagellum function under conditions of high (p)ppGpp levels, suggesting FlaC plays an important role in SR-induced pathogenicity in V. cholerae.

Development of KHapmap Browser using DAS for Korean HapMap Research

  • Jin, Hoon;Kim, Seung-Ho;Kim, Young-Uk;Park, Young-Kyu;Ji, Mi-Hyun;Kim, Young-Joo
    • Genomics & Informatics
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    • v.6 no.2
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    • pp.57-63
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    • 2008
  • The Korean HapMap Project has been carried out for the last 5 years since it started in June, 2003. The project generated data for a sum of 1,764,000 Korean SNPs and formally registered the data to the dbSNP of NCBI (The dbSNP website. 2008). We have developed a series of software programs for association studies as well as for the comparison and analysis of Korean HapMap data with four other populations (CEPH, Yoruba, Han Chinese, and Japanese populations). The KHapmap Browser was developed and integrated to provide haplotype retrieval and comparative study tools of human ethnicities for comprehensive disease association studies (http://www.khapmap.org). On that basis, GBrowse was adopted in the KHapmap Browser for inherent Korean genetic data, and a provision of extended services was pledged with the distributed sequence annotation system (DAS). The dynamic linking service of the KHapmap Browser to other tools in our intranetwork environment provides many enhanced functions over GBrowse without DAS. KHapmap Browser is expected to be an invaluable tool for the study of Korean and international Hapmap data.

Microbial Forensics: Comparison of MLVA Results According to NGS Methods, and Forensic DNA Analysis Using MLVA (미생물법의학: 차세대염기서열분석 방법에 따른 MLVA 결과 비교 및 이를 활용한 DNA 감식)

  • Hyeongseok Yun;Seungho Lee;Seunghyun Lim;Daesang Lee;Sehun Gu;Jungeun Kim;Juhwan Jeong;Seongjoo Kim;Gyeunghaeng Hur;Donghyun Song
    • Journal of the Korea Institute of Military Science and Technology
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    • v.27 no.4
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    • pp.507-515
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    • 2024
  • Microbial forensics is a scientific discipline for analyzing evidence related to biological crimes by identifying the origin of microorganisms. Multiple locus variable number tandem repeat analysis(MLVA) is one of the microbiological analysis methods used to specify subtypes within a species based on the number of tandem repeat in the genome, and advances in next generation sequencing(NGS) technology have enabled in silico anlysis of full-length whole genome sequences. In this paper, we analyzed unknown samples provided by Robert Koch Institute(RKI) through The United Nations Secretary-General's Mechanism(UNSGM)'s external quality assessment exercise(EQAE) project, which we officially participated in 2023. We confirmed that the 3 unknown samples were B. anthracis through nucleic acid isolation and genetic sequence analysis studies. MLVA results on 32 loci of B. anthracis were analysed by using genome sequences obtained from NGS(NextSeq and MinION) and Sanger sequencing. The MLVA typing using short-reads based NGS platform(NextSeq) showed a high probability of causing assembly error when a size of the tandem repeats was grater than 200 bp, while long-reads based NGS platform(MinION) showed higher accuracy than NextSeq, although insertion and deletion was observed. We also showed hybrid assembly can correct most indel error caused by MinION. Based on the MLVA results, genetic identification was performed compared to the 2,975 published MLVA databases of B. anthracis, and MLVA results of 10 strains were identical with 3 unkonwn samples. As a result of whole genome alignment of the 10 strains and 3 unknown samples, all samples were identified as B. anthracis strain A4564 which is associated with injectional anthrax isolates in heroin users.

Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients

  • Yi, Ji Hyun;Cho, Yang-Je;Kim, Won-Joo;Lee, Min Goo;Lee, Ji Hyun
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.254-262
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    • 2013
  • The multidrug resistance protein 2 (MRP2, ABCC2) gene may determine individual susceptibility to adverse drug reactions (ADRs) in the central nervous system (CNS) by limiting brain access of antiepileptic drugs, especially valproic acid (VPA). Our objective was to investigate the effect of ABCC2 polymorphisms on ADRs caused by VPA in Korean epileptic patients. We examined the association of ABCC2 single-nucleotide polymorphisms and haplotype frequencies with VPA related to adverse reactions. In addition, the association of the polymorphisms with the risk of VPA related to adverse reactions was estimated by logistic regression analysis. A total of 41 (24.4%) patients had shown VPA-related adverse reactions in CNS, and the most frequent symptom was tremor (78.0%). The patients with CNS ADRs were more likely to have the G allele (79.3% vs. 62.7%, p=0.0057) and the GG genotype (61.0% vs. 39.7%, p=0.019) at the g.-1774delG locus. The frequency of the haplotype containing g.-1774Gdel was significantly lower in the patients with CNS ADRs than without CNS ADRs (15.8% vs. 32.3%, p=0.0039). Lastly, in the multivariate logistic regression analysis, the presence of the GG genotype at the g.-1774delG locus was identified as a stronger risk factor for VPA related to ADRs (odds ratio, 8.53; 95% confidence interval, 1.04 to 70.17). We demonstrated that ABCC2 polymorphisms may influence VPA-related ADRs. The results above suggest the possible usefulness of ABCC2 gene polymorphisms as a marker for predicting response to VPA-related ADRs.

MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions

  • Park, Sang Mee;Park, Hae Ryoun;Lee, Ji Hye
    • Molecules and Cells
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    • v.40 no.2
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    • pp.151-161
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    • 2017
  • Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures. A mutation of rolled, a Drosophila homolog of human mitogen-activated protein kinase 3 (MAPK3) at the 16p11.2 locus, caused ectopic innervation of axonal branches and their abnormal defasciculation. The specificity of these phenotypes was confirmed by expression of wild-type rolled in the mutant background. Albeit to a lesser extent, we also observed ectopic innervation patterns in mutants defective in Cdk2, Gq, and Gp93, all of which were expected to interact with Rolled MAPK3. A further genetic analysis in double heterozygous combinations revealed a synergistic interaction between rolled and Gp93. In addition, results from RT-qPCR analyses indicated consistently reduced rolled mRNA levels in Cdk2, Gq, and Gp93 mutants. Taken together, these data suggest a central role of MAPK3 in regulating the precise targeting of presynaptic axons to proper postsynaptic targets, a critical step that may be altered significantly in ASD.

Innate Immune Response of NNV Infection in Fish and Its Disease Prevention

  • Lu, Ming-Wei;Wu, Jen-Leih
    • Journal of Marine Bioscience and Biotechnology
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    • v.2 no.3
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    • pp.127-132
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    • 2007
  • The innate immune response which is seen as the initial defense mechanism induced upon foreign invasion has been well documented in higher vertebrates. This has also been observed in fish infected with NNV. However, the fish immune system based on fully established genome project has not been fully elucidated. Therefore, in this review, we hope to correlate NNV infection in fish that has devastated the aquaculture industry, to its host immune system. Further, we discuss the potential preventive measures in overcoming the widespread of this neurodisease.

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Gene counseling의 영양관리 적용

  • Kim, Gyeong-Tae
    • Proceedings of the KSCN Conference
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    • 2005.04a
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    • pp.9-13
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    • 2005
  • 많은 질병의 발생원인의 약 60%이상이 환경요인 때문이라는 것이 잘 알려져 있고 영양과 식이섭취의 중요도는 이중에서도 가장 중요한 것으로 알려져 있다. 특히 Human Genome Project의 완성 이후 Genomics시대에 발맞추어 여러 가지 high throughput 실험들이 가능해지고 Single Nucleotide Polymorphism (SNP)의 발굴이 진행되면서 영양소와 식이요인들의 유전자 발현과 유전학적 변이와의 상관관계가 질병의 예방차원에서 앞으로 연구되어야할 큰 과제로 대두되고 있으며 이를 통한 개개인에 적합한 영양섭취를 권장하는 새로운 방향의 영양관리에 가능성에 대해 많은 관심이 쏠리고 있다. 이에 본 발표에서는 Nutrinogenomics와 Nutrinogenetics의 연구방향과 연구 성과들을 소개하여 유전적 요인에 의한 식이요소의 섭취경향이 질병에 어떠한 관련이 있는지, 최근까지의 연구에서의 제한점은 어떠한 것이 있는지 살펴보고자 한다.

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Bioinformatics Interpretation of Exome Sequencing: Blood Cancer

  • Kim, Jiwoong;Lee, Yun-Gyeong;Kim, Namshin
    • Genomics & Informatics
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    • v.11 no.1
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    • pp.24-33
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    • 2013
  • We had analyzed 10 exome sequencing data and single nucleotide polymorphism chips for blood cancer provided by the PGM21 (The National Project for Personalized Genomic Medicine) Award program. We had removed sample G06 because the pair is not correct and G10 because of possible contamination. In-house software somatic copy-number and heterozygosity alteration estimation (SCHALE) was used to detect one loss of heterozygosity region in G05. We had discovered 27 functionally important mutations. Network and pathway analyses gave us clues that NPM1, GATA2, and CEBPA were major driver genes. By comparing with previous somatic mutation profiles, we had concluded that the provided data originated from acute myeloid leukemia. Protein structure modeling showed that somatic mutations in IDH2, RASGEF1B, and MSH4 can affect protein structures.

Application of Multiscale Computational Materials Science for Enhancing Surface Reactivity of Nanomaterials (멀티스케일 전산재료과학을 이용한 나노소재의 표면반응 고성능화 연구)

  • Han, Byeong-Chan;No, Seung-Hyo;Gang, Jun-Hui;Hwang, Ji-Min;Gwon, Cho-A;Choe, Dae-Hyeon;Jeong, Hyeon-Uk
    • Proceedings of the Korean Institute of Surface Engineering Conference
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    • 2017.05a
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    • pp.24-50
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    • 2017
  • 최근 수퍼 컴퓨터 성능과 소프트 엔지니어링의 비약적인 발달에 힘입어, 제일원리에 기반한 전산재료과학분야에 혁신이 일어나고 있다. 빅 데이터 (Big Data) 관리와 소재 게놈학 (Materials Genome Project) 분야는 그 대표적인 사례이다. 본 발표는 나노입자의 가장 큰 매력인 높은 부피대비 표면적을 이용한 다양한 화학반응성을 고양하는 연구를 소개한다. 신재생에너지 시스템용 전기촉매, 리튬이온전지 전극 및 전해질, 원자력의 사용후 핵연료 재활용, 인체 유해화합물 제거용 소재 개발 등을 중심으로 그 성공적인 방법론을 제공한다.

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