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Pregled bibliografske jedinice broj: 541755

High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

Boultwood, J.; Perry, J.; Zaman, R.; Fernandez-Santamaria, C.; Littlewood, T.; Kušec, Rajko; Pellagatti, A.; Wang, L.; Clark, R.E.; Wainscoat, J.S.
High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression // Leukemia, 24 (2010), 6; 1139-1145 doi:10.1038/leu.2010.65 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 541755 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

Autori
Boultwood, J. ; Perry, J. ; Zaman, R. ; Fernandez-Santamaria, C. ; Littlewood, T. ; Kušec, Rajko ; Pellagatti, A. ; Wang, L. ; Clark, R.E. ; Wainscoat, J.S.

Izvornik
Leukemia (0887-6924) 24 (2010), 6; 1139-1145

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
ASXL1 mutation; chronic myeloid leukemia; SNP array

Sažetak
We have undertaken a genome-wide single nucleotide polymorphism (SNP) array analysis of 41 chronic myeloid leukemia (CML) patients. In total, 44 regions of uniparental disomy (UPD) >3 Mb were identified in 24 of 32 patients in chronic phase (CP), and 21 regions of UPD >3 Mb were identified in 13 of 21 patients in blast crisis (BC). Chromosome 8 had the highest frequency of UPD regions in both CP and BC samples. Eight recurrent regions of UPD were observed among the 41 patients, with chromosome 8 showing the highest frequency. Ten regions of copy number change (CNC) >3 Mb were observed in 4 of 21 patients in BC, whereas none were observed in CP. We have identified several recurrent regions of UPD and CNC in CML that may be of pathogenetic importance. Overrepresentation of genomic aberrations (UPD and copy number gain) mapping to chromosome 8 was observed. Selected candidate genes mapping within the aberrant genomic regions were sequenced and mutation of the TP53 gene was observed in one case in BC and of the ASXL1 gene in 6 of 41 cases in CP or BC. Mutation of ASXL1 represents an important new molecular abnormality in CML.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
108-1980955-3094 - Genetika i funkcija hematopoeze i mikrookoliša Ph- mijeloproliferativnih bolesti (Kušec, Rajko, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Rajko Kušec (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

Boultwood, J.; Perry, J.; Zaman, R.; Fernandez-Santamaria, C.; Littlewood, T.; Kušec, Rajko; Pellagatti, A.; Wang, L.; Clark, R.E.; Wainscoat, J.S.
High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression // Leukemia, 24 (2010), 6; 1139-1145 doi:10.1038/leu.2010.65 (međunarodna recenzija, članak, znanstveni)
Boultwood, J., Perry, J., Zaman, R., Fernandez-Santamaria, C., Littlewood, T., Kušec, R., Pellagatti, A., Wang, L., Clark, R. & Wainscoat, J. (2010) High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia, 24 (6), 1139-1145 doi:10.1038/leu.2010.65.
@article{article, author = {Boultwood, J. and Perry, J. and Zaman, R. and Fernandez-Santamaria, C. and Littlewood, T. and Ku\v{s}ec, Rajko and Pellagatti, A. and Wang, L. and Clark, R.E. and Wainscoat, J.S.}, year = {2010}, pages = {1139-1145}, DOI = {10.1038/leu.2010.65}, keywords = {ASXL1 mutation, chronic myeloid leukemia, SNP array}, journal = {Leukemia}, doi = {10.1038/leu.2010.65}, volume = {24}, number = {6}, issn = {0887-6924}, title = {High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression}, keyword = {ASXL1 mutation, chronic myeloid leukemia, SNP array} }
@article{article, author = {Boultwood, J. and Perry, J. and Zaman, R. and Fernandez-Santamaria, C. and Littlewood, T. and Ku\v{s}ec, Rajko and Pellagatti, A. and Wang, L. and Clark, R.E. and Wainscoat, J.S.}, year = {2010}, pages = {1139-1145}, DOI = {10.1038/leu.2010.65}, keywords = {ASXL1 mutation, chronic myeloid leukemia, SNP array}, journal = {Leukemia}, doi = {10.1038/leu.2010.65}, volume = {24}, number = {6}, issn = {0887-6924}, title = {High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression}, keyword = {ASXL1 mutation, chronic myeloid leukemia, SNP array} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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