• 제목/요약/키워드: Chromosome marker

검색결과 233건 처리시간 0.023초

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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    • 제17권7호
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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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    • 제18권1호
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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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    • 제15권1호
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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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    • 제15권1호
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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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    • 제55권12호
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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.

한국인과 일본인에서 1번 염색체에 부착되는 microsatellite marker의 특징 (Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations)

  • 이유진;박수병
    • 대한치과교정학회지
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    • 제34권6호
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    • pp.537-543
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    • 2004
  • Microsatellite market는 유전연관분석을 위한 매우 유용한 유전표지이다. 그러나 대부분의 market들은 서양인의 정보를 이응하고 있으므로 다른 종족에서 사용할 때는 종족간에 존재할 수 있는 유전 변이의 현저한 차이를 검증해야 한다. 한국인과 일본인 집단에서 종족간 유전 변이를 조사하기 위하여, 각각 96명의 비 혈연관계의 한국인과 일본인 개체들에서 DNA를 채취하였다 그리고 microsatellite set(ABI PRISM Linkage Mapping Set- HDS, Applied Biosystems, Foster City, CA, USA)을 이용하여 1번 인간 염색체 전 부위에 걸쳐 51개의 microsatellite marker들을 배열하고 부착된 marker들의 위치를 분석하여 대립유전자 빈도와 이형질성을 결정하였다 그 결과, 한국인과 서양인 집단 사이에는 현저한 차이를 보였으나 한국인과 일본인 집단 사이에서는 매우 유사하였다. 본 연구의 결과는 유전 연관 연구에 앞서 일반적으로 상용되는 microsatellite marker에 관한 광범위한 검증을 반드시 시행하여야 한다는 것을 나타낸다. 또한 한국인과 일본인 집단 사이에서 유사하게 나타난 대립유전자 빈도와 이 형질성은 두 민족간의 동질성이 높다는 것을 의미하므로 두 민족을 대상으로 한 1번 인간염색체와 관련된 유전 질환의 유전 연관 연구를 시행할 때 동일한 microsatellite marker의 이용 가능성을 제시하였다.

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

  • 김연희
    • 생명과학회지
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    • 제28권11호
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    • pp.1277-1284
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    • 2018
  • 본 연구에서는 효모염색체내에 다양한 유전자 발현 cassette를 도입하기 위해 Cre/loxP system을 가진 repeated yeast integrative plasmid (R-YIp)를 구축하였다. R-YIp는 반복적으로 형질전환체를 선별할 수 있는 selective marker (CgTRP1)와 loxP 서열, 그리고 integration을 위한 목적서열을 함유하고 있어 같은 염색체의 동일한 위치에 여러 개의 유전자 발현 cassette를 도입하는 것이 가능하다. 따라서 xylan/xylose 대사에 관련된 endoxylanase (XYLP), ${\beta}$-xylosidase (XYLB), xylose reductase (GRE3) 그리고xylitol dehydrogenase (XYL2)의 효모염색체내에 도입을 시도하였다. 먼저 XYLP, XYLB, GRE3그리고 XYL2 유전자의 효율적인 발현을 위한 promoter를 선별하기 위해 pGMF-GENE과 pAMF-GENE plasmid를 구축하였고, 각 유전자들의 발현에 GAL10 promoter가 적합함을 확인하였다. 다음으로 GAL10p-GENE-GAL7t cassette를 가진 pRS-GENE plasmid (R-YIp)를 구축하여, 반복적 integration 과정과 selective marker의 제거를 통해 각각의 R-YIps를 효모 7번염색체에 순차적으로 도입하였다. R-YIp system을 통해 효모염색체내에 도입된 유전자들은 모두 안정적으로 발현되었고, 활성형의 재조합효소를 생산함을 확인할 수 있었다. 따라서 다수의 외래유전자를 효모염색체내 도입함에 있어 selective marker와 숙주세포 선택의 한계를 R-YIp system을 통해 어느 정도 극복할 수 있을 것이라 기대한다.

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

  • 이제영;여정수;김재우;이용원
    • Journal of the Korean Data and Information Science Society
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    • 제13권2호
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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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    • 제14권4호
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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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    • 제11권3호
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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.