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A full-coverage, hi...
A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications
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- Buckley, Patrick G (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Mantripragada, Kiran K (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Benetkiewicz, Magdalena (author)
- Uppsala universitet,Institutionen för genetik och patologi
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show more...
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- Tapia-Paez, Isabel (author)
- Karolinska Institutet
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- Diaz de Ståhl, Teresita (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Rosenquist, Magnus (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Ali, Haider (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Jarbo, Caroline (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- de Bustos, Cecilía (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Hirvela, Carina (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Sinder Wilén, Birgitta (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Fransson, Ingegerd (author)
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- Thyr, Charlotte (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Johnsson, Britt-Inger (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Bruder, Carl E G (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Menzel, Uwe (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Hergersberg, Martin (author)
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- Mandahl, Nils (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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- Blennow, Elisabeth (author)
- Karolinska Institutet
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- Wedell, Anna (author)
- Karolinska Institutet
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Beare, David M (author)
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Collins, John E (author)
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Dunham, Ian (author)
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Albertson, Donna (author)
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Pinkel, Daniel (author)
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Bastian, Boris C (author)
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Faruqi, A Fawad (author)
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Lasken, Roger S (author)
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Ichimura, Koichi (author)
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Collins, V Peter (author)
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- Dumanski, Jan P (author)
- Uppsala universitet,Medicinsk genetik
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(creator_code:org_t)
- Oxford University Press (OUP), 2002
- 2002
- English.
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 11:25, s. 3221-3229
- Related links:
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https://academic.oup...
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http://hmg.oxfordjou... (free)
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http://www.ncbi.nlm.... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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Abstract
Subject headings
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- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Buckley, Patrick ...
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Mantripragada, K ...
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Benetkiewicz, Ma ...
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Tapia-Paez, Isab ...
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Diaz de Ståhl, T ...
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Rosenquist, Magn ...
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show more...
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Ali, Haider
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Jarbo, Caroline
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de Bustos, Cecil ...
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Hirvela, Carina
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Sinder Wilén, Bi ...
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Fransson, Ingege ...
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Thyr, Charlotte
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Johnsson, Britt- ...
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Bruder, Carl E G
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Menzel, Uwe
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Hergersberg, Mar ...
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Mandahl, Nils
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Blennow, Elisabe ...
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Wedell, Anna
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Beare, David M
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Collins, John E
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Dunham, Ian
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Albertson, Donna
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Pinkel, Daniel
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Bastian, Boris C
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Faruqi, A Fawad
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Lasken, Roger S
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Ichimura, Koichi
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Collins, V Peter
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Dumanski, Jan P
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Molecular ...
- By the university
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Uppsala University
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Lund University
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Karolinska Institutet