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J Med Genet 42:416-419 doi:10.1136/jmg.2004.025353
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Identification of discrete chromosomal deletion by binary recursive partitioning of microarray differential expression data

Table 2

 Identification of CNA origin by microarray differential expression analysis

Cells Deletion region* Breakpoint Predicted breakpoint Pre-point prevalence** Post-point prevalence†† Odds ratio‡‡
Locus† Mb‡ Locus§ Mb¶
*Deletion regions are derived from karyotypes data that provided by Coriell Cell Repositories/NIGMS; †the expected breakpoint locus determined based on previous cytogenetic evaluation/total number of assessed loci for the specific chromosome; ‡the expected base pair location of the breakpoint/total base pairs on the specific chromosome; §point estimate (and bootstrap 95% confidence interval) of the ordered locus at which chromosomal deletion begins; ¶point estimate (and bootstrap 95% confidence interval) of the chromosomal location (in megabases from pter) at which chromosomal deletion begins; **prevalence of microarray declared decreases in gene expression for genes with transcription start sites p terminal to the estimated breakpoint; ††prevalence of microarray declared decreases in gene expression for genes with transcription start sites q terminal to the estimated breakpoint; ‡‡odds of declared underexpression in the post-breakpoint region relative to that in the pre-breakpoint region.
GM03240 7q35→qter 1342/1493 143.0/158.2 1354 (1327 to 1406) 147.8 (142.5 to 150.2) 8.6% 35.3% 5.76
GM00870 9pter→p13 187/1185 33.2/136.3 112 (40 to 243) 19.4 (5.5 to 35.1) 26.8% 9.7% 3.41
GM03047 10pter→p12 232/1221 29.1/134.8 224 (197 to 252) 28.1 (26.6 to 32.6) 29.5% 7.2% 5.37

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