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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1016/0378-1127(89)90119-9

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1432-1203

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Detection of DNA copy number abnormality by microa

Authors: Xiaofeng Zhou Steven W Cole Shen Hu David T W Wong
Publish Date: 2004/02/11
Volume: 114, Issue: 5, Pages: 464-467
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Abstract

Gene copynumber abnormalities CNAs are characteristic of solid tumors and are found in association with developmental abnormalities and/or mental retardation The ultimate impact of CNAs is exerted by the altered expression of encoded genes We have utilized highdensity oligonucleotide arrays from Affymetrix to identify DNA CNAs via their impact on mRNA expression levels In these studies we have used three different trisomic cell lines trisomy 9 trisomy 18 trisomy 21 as models of CNAs and have compared mRNA expression in those trisomic cells with that observed in diploid cell lines of matched tissue origin Our data clearly show that genes from CNA chromosome regions are substantially overrepresented P0000001 by chisquare analysis in the differentially expressed subset from comparisons of all three trisomic cell lines with normal matching cells In addition we have been able to detect the origin of the duplication by a statistical scan for overexpressed genes These data show that microarray detection of differential mRNA expression can be used to identify significant DNA CNAsThis work was supported in part by NIH PHS grants R21 CA94216 to D Wong R21 AI49135 and R01 AI52737 to S Cole and NIH training grant DE0729607 and a CRFA fellowship to X Zhou The Affymetrix U133A array hybridization and scanning were performed in the UCLA DNA microarray facility

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