Linked Life Data

20815030

Source:http://linkedlifedata.com/resource/pubmed/id/20815030

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2010-10-14
pubmed:abstractText
Recent genomic studies have shown that copy number abnormalities (CNA) of genes involved in lymphoid differentiation and cell cycle control are common in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). We have evaluated Multiplex Ligation-dependent Probe Amplification (MLPA) on 43 BCP-ALL patients for the detection of the most common deletions among these genes and compared the results to those obtained by fluorescence in situ hybridization (FISH) and genomic quantitative PCR (qPCR). There was good correlation between methods for CDKN2A/B, IKZF1, and PAX5 deletions in the majority of cases and MLPA confirmed the presence of deletions within the PAR1 region in two of three cases identified by FISH. Small intragenic aberrations detected by MLPA, which were below the resolution of FISH for CDKN2A/B (n = 7), IKZF1 (n = 3), and PAX5 (n = 3) were confirmed by qPCR. MLPA and qPCR were unable to detect populations present at a low level (<20%) by FISH. In addition, although MLPA identified the presence of a deletion, it was unable to discern the presence of mixed cell populations which had been identified by FISH: CDKN2A/B (n = 3), IKZF1 (n = 1), PAX5 (n = 2), and PAR1 deletion (n = 1). Nevertheless, this study has demonstrated that MLPA is a robust technique for the reliable detection of CNA involving multiple targets in a single test and thus is ideal for rapid high throughput testing of large cohorts with a view to establishing incidence and prognostic significance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1098-2264
pubmed:author
pubmed:copyrightInfo
© 2010 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1104-13
pubmed:meshHeading
pubmed-meshheading:20815030-B-Cell-Specific Activator Protein, pubmed-meshheading:20815030-Cell Cycle, pubmed-meshheading:20815030-Comparative Genomic Hybridization, pubmed-meshheading:20815030-Cytogenetic Analysis, pubmed-meshheading:20815030-DNA Copy Number Variations, pubmed-meshheading:20815030-DNA Probes, pubmed-meshheading:20815030-Gene Dosage, pubmed-meshheading:20815030-Genes, cdc, pubmed-meshheading:20815030-Genes, p16, pubmed-meshheading:20815030-Humans, pubmed-meshheading:20815030-Ikaros Transcription Factor, pubmed-meshheading:20815030-In Situ Hybridization, Fluorescence, pubmed-meshheading:20815030-Karyotyping, pubmed-meshheading:20815030-Lymphocytes, pubmed-meshheading:20815030-Molecular Probe Techniques, pubmed-meshheading:20815030-Nucleic Acid Amplification Techniques, pubmed-meshheading:20815030-Polymerase Chain Reaction, pubmed-meshheading:20815030-Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, pubmed-meshheading:20815030-Sensitivity and Specificity, pubmed-meshheading:20815030-Transcription Factors
pubmed:year
2010
pubmed:articleTitle
Evaluation of multiplex ligation-dependent probe amplification as a method for the detection of copy number abnormalities in B-cell precursor acute lymphoblastic leukemia.
pubmed:affiliation
Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Evaluation Studies