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  • Buckley, Patrick GUppsala universitet,Institutionen för genetik och patologi (author)

A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications

  • Article/chapterEnglish2002

Publisher, publication year, extent ...

  • Oxford University Press (OUP),2002
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-63946
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-63946URI
  • https://doi.org/10.1093/hmg/11.25.3221DOI
  • https://lup.lub.lu.se/record/111056URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:1946810URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-92894URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-92614URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-93930URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • De två första författarna delar förstaförfattarskapet.
  • We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 array covers 34.7 Mb, representing 1.1% of the genome, with an average resolution of 75 kb. To demonstrate the utility of the array, we have applied it to profile acral melanoma, dermatofibrosarcoma, DiGeorge syndrome and neurofibromatosis 2. We accurately diagnosed homozygous/heterozygous deletions, amplifications/gains, IGLV/IGLC locus instability, and breakpoints of an imbalanced translocation. We further identified the 14-3-3 eta isoform as a candidate tumor suppressor in glioblastoma. Two significant methodological advances in array construction were also developed and validated. These include a strictly sequence defined, repeat-free, and non-redundant strategy for array preparation. This approach allows an increase in array resolution and analysis of any locus; disregarding common repeats, genomic clone availability and sequence redundancy. In addition, we report that the application of phi29 DNA polymerase is advantageous in microarray preparation. A broad spectrum of issues in medical research and diagnostics can be approached using the array. This well annotated and gene-rich autosome contains numerous uncharacterized disease genes. It is therefore crucial to associate these genes to specific 22q-related conditions and this array will be instrumental towards this goal. Furthermore, comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome can be studied using our array.

Subject headings and genre

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  • Mantripragada, Kiran KUppsala universitet,Institutionen för genetik och patologi (author)
  • Benetkiewicz, MagdalenaUppsala universitet,Institutionen för genetik och patologi (author)
  • Tapia-Paez, IsabelKarolinska Institutet (author)
  • Diaz de Ståhl, TeresitaUppsala universitet,Institutionen för genetik och patologi (author)
  • Rosenquist, MagnusUppsala universitet,Institutionen för genetik och patologi (author)
  • Ali, HaiderUppsala universitet,Institutionen för genetik och patologi (author)
  • Jarbo, CarolineUppsala universitet,Institutionen för genetik och patologi (author)
  • de Bustos, CecilíaUppsala universitet,Institutionen för genetik och patologi (author)
  • Hirvela, CarinaUppsala universitet,Institutionen för genetik och patologi (author)
  • Sinder Wilén, BirgittaUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)bwi30499 (author)
  • Fransson, Ingegerd (author)
  • Thyr, CharlotteUppsala universitet,Institutionen för genetik och patologi (author)
  • Johnsson, Britt-IngerUppsala universitet,Institutionen för genetik och patologi (author)
  • Bruder, Carl E GUppsala universitet,Institutionen för genetik och patologi (author)
  • Menzel, UweUppsala universitet,Institutionen för genetik och patologi (author)
  • Hergersberg, Martin (author)
  • Mandahl, NilsLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-nma (author)
  • Blennow, ElisabethKarolinska Institutet (author)
  • Wedell, AnnaKarolinska Institutet (author)
  • Beare, David M (author)
  • Collins, John E (author)
  • Dunham, Ian (author)
  • Albertson, Donna (author)
  • Pinkel, Daniel (author)
  • Bastian, Boris C (author)
  • Faruqi, A Fawad (author)
  • Lasken, Roger S (author)
  • Ichimura, Koichi (author)
  • Collins, V Peter (author)
  • Dumanski, Jan PUppsala universitet,Medicinsk genetik(Swepub:uu)janduman (author)
  • Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

Related titles

  • In:Human Molecular Genetics: Oxford University Press (OUP)11:25, s. 3221-32290964-69061460-2083

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