From cryptic chromosomal lesions to pathologically relevant genes: Integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A12173" target="_blank" >RIV/00216208:11110/12:12173 - isvavai.cz</a>
Alternative codes found
RIV/00023736:_____/12:00009364 RIV/00064165:_____/12:12173
Result on the web
<a href="http://dx.doi.org/10.1002/gcc.21927" target="_blank" >http://dx.doi.org/10.1002/gcc.21927</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
From cryptic chromosomal lesions to pathologically relevant genes: Integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype
Original language description
Myelodysplastic syndrome (MDS), a clonal disorder originating from hematopoietic stem cell, is characterized by a progressive character often leading to transformation to acute myeloid leukemia. We used single nucleotide polymorphism arrays (SNP-A) to identify previously cryptic chromosomal abnormalities such as copy number alterations and uniparental disomies (UPD) in cytogenetically normal MDS. In the aberrant regions, we attempted to localize candidate genes with potential relevance to the disease. Using SNP-A, we analyzed peripheral blood granulocytes from 37 MDS patients. The analysis identified 13 cryptic chromosomal defects in 10 patients (27%). Four UPD (affecting chromosomes 3q, 7q, 17q, and 20p), 5 deletions and 4 duplications were detected.Gene expression data measured on CD34+ cells were available for 4 patients with and 6 patients without SNP-A lesions. We performed an integrative analysis of genotyping and gene expression microarrays and found several genes with an alter
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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