• Title/Summary/Keyword: Chromosome marker

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Generation of FISH Probes Using Laser Microbeam Microdissection and Application to Clinical Molecular Cytogenetics

  • Shim, Sung-Han;Kyhm, Jee-Hong;Chung, Sung-Ro;Kim, Seung-Ryong;Park, Moon-Il;Lee, Chul-Hoon;Cho, Youl-Hee
    • Journal of Microbiology and Biotechnology
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    • v.17 no.7
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    • pp.1079-1082
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    • 2007
  • Chromosome microdissection and the reverse FISH technique is one of the most useful methods for the identification of structurally abnormal chromosomes. In particular, the laser microbeam microdissection (LMM) method allows rapid isolation of a target chromosome or a specific region of chromosomes without damage of genetic materials and contamination. Isolated chromosomes were directly amplified by the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), and then the FISH probes labeled with spectrum green- or spectrum red-dUTP were generated by nick-translation. Whole chromosome painting (WCP) probes were successfully generated from only 5 copies of the chromosome. With this method, we produced 24 WCP probes for each human chromosome. We also tried to characterize a marker chromosome, which seemed to be originated from chromosome 11 on conventional banding technique. The marker chromosomes were isolated by the LMM method and analyzed by reverse FISH. We elucidated that the marker chromosome was originated from the short arm of chromosome 5 ($5p11{\to}pter$). A fully automated and computer-controlled LMM method is a very simple laboratory procedure, and enables rapid and precise characterization of various chromosome abnormalities.

Bootstrapping of Hanwoo Chromosome17 Based on BMS1167 Microsatellite Locus

  • Lee, Jea-Young;Lee, Yong-Won;Yeo, Jung-Sou
    • Journal of the Korean Data and Information Science Society
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    • v.18 no.1
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    • pp.175-184
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    • 2007
  • LOD scores and a permutation test for detecting and locating quantitative trait loci (QTL) from the Hanwoo economic trait have been described and we selected a considerable major BMS1167 locus for further analysis. K-means clustering analysis, for the major DNA marker mining of BMS1167 microsatellite loci in Hanwoo chromosome17, has been tried and three cluster groups divide four traits. The three cluster groups are classified according to eight DNA marker bps. Finally, we employed the bootstrap test method to calculate confidence intervals using the resampling method to find major DNA markers. We conclude that the major marker of BMS1167 locus in Hanwoo chromosome17 is only DNA marker 100bp.

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Bootstrap Analysis of ILSTS035 Microsatellite Locus in Hanwoo Chromosome 6

  • Lee, Jea-Young;Lee, Yong-Won;Kim, Mun-Jung
    • Journal of the Korean Data and Information Science Society
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    • v.15 no.1
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    • pp.75-81
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    • 2004
  • We selected, in previous research, a major DNA Marker 235bp of ILSTS035 microsatellite locus in progeny test Hanwoo chromosome 6. We apply a major DNA Marker 235bp to perormance valuation Hanwoo chomosome 6. We use bootstrap BCa method and calculate confidence interval. A major DNA Marker 235bp is verified that it does not have environmental effect but affects primely economic trait factor.

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A Major DNA Marker of BM4311 Microsatellite Locus in Hanwoo Chromosome 6 using the Bootstrap BCa Method

  • Lee, Jea-Young;Kim, Mun-Jung;Lee, Young-Won
    • Journal of the Korean Data and Information Science Society
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    • v.15 no.1
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    • pp.41-47
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    • 2004
  • DNA marker 95bp and 100bp are selected as major DNA markers of the BM4311 microsatellite locus in progeny test Hanwoo chromosome 6 linkage map. This document is tried to know whether DNA marker 95bp and 100bp are also major DNA markers in Hanwoo performance valuation in chromosome 6 linkage map. The bootstrap BCa method will be used to calculate confidence interval for DNA markers.

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A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

  • Kim, Jon Soo;Park, Jinyu;Min, Byung-Joo;Oh, Sun Kyung;Choi, Jin Sun;Woo, Mi Jung;Chae, Jong-Hee;Kim, Ki Joong;Hwang, Yong Seung;Lim, Byung Chan
    • Clinical and Experimental Pediatrics
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    • v.55 no.12
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    • pp.487-490
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    • 2012
  • We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

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.

System for Repeated Integration of Various Gene Expression Cassettes in the Yeast Chromosome (효모염색체내에 다양한 유전자발현 cassette의 반복적 integration을 위한 system 구축)

  • Kim, Yeon-Hee
    • Journal of Life Science
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    • v.28 no.11
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    • pp.1277-1284
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    • 2018
  • In this study, a repeated yeast integrative plasmid (R-YIp) harboring Cre/loxP system was constructed to integrate various gene expression cassettes into the yeast chromosome. The R-YIp system contains a reusable selective marker (CgTRP1), loxP sequence, and target sequence for integration. Therefore, many gene expression cassettes can be integrated into the same position of the same yeast chromosome. In the present study, several model enzymes involving xylan/xylose metabolism were examined, including endoxylanase (XYLP), ${\beta}$-xylosidase (XYLB), xylose reductase (GRE3) and xylitol dehydrogenase (XYL2). Efficient expression of these genes was obtained using two promoters (GAL10p and ADH1p) and various plasmids (pGMF-GENE and pAMF-GENE plasmids) were constructed. The XYLP, XYLB, GRE3, and XYL2 genes were efficiently expressed under the control of the GAL10 promoter. Subsequently, R-YIps containing the GAL10p-GENE-GAL7t cassette were constructed, resulting in pRS-XylP, pRS-XylB, pRS-Gre3, and pRS-Xyl2 plasmids. These plasmids were sequentially integrated into chromosome VII of a Saccharomyces cerevisiae strain by repeated gene integration and selective marker rescue. These genes were integrated by the R-YIp system and were stably expressed in the yeast transformants to produce active recombinant enzymes. Therefore, we expect that the R-YIp system will be able to overcome current limitations of the host cells and allow selective marker selection for the integration of various genes into the yeast chromosome.

A Major DNA marker Mining of ILST035 microsatellite loci in Hanwoo Chromosome 6

  • Lee, Jea-Young;Yeo, Jung-Sou;Kim, Jae-Woo;Lee, Yong-Won
    • Journal of the Korean Data and Information Science Society
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    • v.13 no.2
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    • pp.97-104
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    • 2002
  • K-Means modelling has been tried for finding major DNA marker of ILST035 microsatellite loci in Hanwoo Chromosome 6 linkage map. Major DNA markers are obtained from the ILST035 microsatellite through quantitative trait loci(QTL) and data mining modelling.

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A Major DNA Marker Mining of BM4311 Microsatellite Loci in Hanwoo Chromosome 6

  • Lee, Jea-Young;Kim, Mun-Jung;Lee, Yong-Won
    • Journal of the Korean Data and Information Science Society
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    • v.14 no.4
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    • pp.759-772
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    • 2003
  • K-Means and Web mining modelling have been tried for finding major DNA marker of BM4311 microsatellite loci in Hanwoo Chromosome 6 linkage map. Furthermore, a major DNA mining by bootstrap simulations(BCa) has been applied.

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Major DNA Marker Mining of Hanwoo Chromosome 6 by Bootstrap Method

  • Lee, Jea-Young;Lee, Yong-Won
    • Communications for Statistical Applications and Methods
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    • v.11 no.3
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    • pp.657-668
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    • 2004
  • Permutation test has been applied for the QTL(quantitative trait loci) analysis and we selected a major locus. K -means clustering analysis, for the major DNA Marker mining of ILSTS035 microsatellite loci in Hanwoo chromosome 6, has been described. Finally, bootstrap testing method has been adapted to calculate confidence intervals and for finding major DNA Markers.