• Title/Summary/Keyword: Genetic screening

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Copy Number Variations in the Human Genome: Potential Source for Individual Diversity and Disease Association Studies

  • Kim, Tae-Min;Yim, Seon-Hee;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.6 no.1
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    • pp.1-7
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    • 2008
  • The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.

Detection of DNA Fragment to Differentiate Korean Cattle

  • Yeo, J.S.;Kim, J.W.;Chang, T.K.;Nam, D.H.;Han, J.Y.;Choi, C.B.
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.8
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    • pp.1071-1075
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    • 2002
  • In order to identify and develop the specific DNA marker for the identification of Hanwoo (Korean Cattle) from other breeds, a specific DNA marker of 519 bp was identified and sequenced from polymorphic analysis using RAPD-PCR for 6 cattle breeds. Two different repetitive sequences, $(AAC)_5$ and $(GAAGA)_2$, were selected and designed to use specific probe to develop a DNA marker for Hanwoo specific. When the $(AAC)_5$ probe was applied, the 10 kb specific DNA marker showed in the DNA fingerprinting from 237 of 281 Hanwoo individuals. This novel Hanwoo specific DNA probe is useful to perform the marker-assisted selection for screening Hanwoo purity as an unique genetic source.

Application of heterogeneous RNA probes labeled immuno-fluorescent agent DIG for the screening a noble gene in cucumber

  • Kim, Dai-Hee;Kim, Byung-Oh;Park, Gyu-Hwan;Takahashi, Hideyuki;Kim, Kyung-Min
    • Plant Resources
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    • v.7 no.2
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    • pp.116-122
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    • 2004
  • We tried to isolating a noble gene from cucumber library with heterogeneouse RNA probe labeled DIG of Arabidopsis PIN3 gene. Two kinds of RNA probes which had no significant homology each others, were designed from the 5'- and 3'- prime nucleotides of the AtPIN3 gene. In the first and second screenings of the cDNA library of cucumber with the probes, two positive clones were identified with specific duplicate signals. However, we isolated cDNA fragments homologous with putative nucleases from Nicotiana, Arabidopsis, Cordialis, and Oryza sativa, there was no significant homology with any other PIN family genes.

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The Security Constrained Economic Dispatch with Line Flow Constraints using the Hybrid PSO Algorithm (Hybrid PSO를 이용한 안전도를 고려한 경제급전)

  • Jang, Se-Hwan;Kim, Jin-Ho;Park, Jong-Bae;Park, June-Ho
    • The Transactions of The Korean Institute of Electrical Engineers
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    • v.57 no.8
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    • pp.1334-1341
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    • 2008
  • This paper introduces an approach of Hybrid Particle Swarm Optimization(HPSO) for a security-constrained economic dispatch(SCED) with line flow constraints. To reduce a early convergence effect of PSO algorithm, we proposed HPSO algorithm considering a mutation characteristic of Genetic Algorithm(GA). In power system, for considering N-1 line contingency, we have chosen critical line contingency through a process of Screening and Selection based on PI(performance Index). To prove the ability of the proposed HPSO in solving nonlinear optimization problems, SCED problems with nonconvex solution spaces are considered and solved with three different approach(Conventional GA, PSO, HPSO). We have applied to IEEE 118 bus system for verifying a usefulness of the proposed algorithm.

Selection and Characterization of Tomato Plants for Osmotic Stress Tolerance Derived from a Gamma Ray Irradiation (감마선 돌연변이원에 의한 Osmotic 스트레스 저항성 토마토 계통 선발 및 특성)

  • Kang, Kwon Kyoo;Jung, Yu Jin
    • Journal of Radiation Industry
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    • v.4 no.3
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    • pp.247-252
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    • 2010
  • The present study has been performed to select the osmotic tolerant lines using polyethylene glycol (PEG 6000) through an in vitro and in vivo mutagensis with a gamma-ray. During the screening, we selected three mutant lines that seemed to confer elevated osmotic tolerance in high concentrations of PEG 6000. Fruits of these mutants (Os-HK101, Os-HK102 and Os-HK103) were increased to sugar concentration, L-glutamine acid, vitamin C content and lycopine content than those of the wild type. Also the chlorophyll contents were few decreased more in the three mutant lines than the WT plants. Our results suggest that the Os-HK101 is characterized as osmotic stress tolerance considering the sugar concentration and lycopine content. It is expected that the result of this study can be used for breeding more competitive species with respect to contents in sugar or functional chemicals from the selected osmotic resistant lines.

Genetic Effects of Pesticides in the Mammalian Cells: I. Induction of Micronucleus

  • Park, Sang-Gi;Lee, Se-Yong
    • The Korean Journal of Zoology
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    • v.20 no.1
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    • pp.19-28
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    • 1977
  • In order to evaluate the mutagenic potential in animal for these pesticides which were proved to be mutagenic in the bacterial screening system with a metabolic activation in vitro, we have studied in vivo cytogenetic effects on mouse bone marrow by means of the micronucleus test. The clastogenic activity of the chemical is evaluated as the frequency of micronuclei in polychromatic erythrocytes. We have tested six pesticides, insecticides, DDVP and trichlorfon, fungicide, TMTD, herbicides, NIP and MO and growth regula색, maleic hydrazide. It was found that among the tested pesticides only TMTD exhibited minimal activity in inducing micronuclei. Organophosphorus insecticide DDVP that is the most broadly used and economically important chemical, did not increase the micronuclei frequencies in mouse bone marrow cells as with the all other pesticides tested.

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In vitro Plant Propagation: A Review

  • Kumar, Nitish;Reddy, M.P.
    • Journal of Forest and Environmental Science
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    • v.27 no.2
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    • pp.61-72
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    • 2011
  • Micropropagation is an alternative mean of propagation that can be employed in mass multiplication of plants in relatively shorter time. Recent modern techniques of propagation have been developed which could facilitate large scale production of true-to-type plants and for the improvement of the species using genetic engineering techniques in the next century. An overview on the in vitro propagation via meristem culture, regeneration via organogenesis and somatic embryogenesis is presented. The usefulness of the plants in commercial industry as well as propagation techniques, screening for various useful characteristics and the influence of different cultural conditions in the multiplication, rooting and acclimatization phases on the growth of tissue cultured plant discussed.

Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

  • Gill, Inkyu;Kim, Ja Hye;Moon, Jin-Hwa;Kim, Yong Joo;Kim, Nam Su
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.87-91
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    • 2018
  • X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.