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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00023736:_____/12:00009364 RIV/00064165:_____/12:12173

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Genes, Chromosomes and Cancer

ISSN

1045-2257

e-ISSN

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Svazek periodika

51

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

419-428

Kód UT WoS článku

000301118100001

EID výsledku v databázi Scopus

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