Research Article

Characteristics of Highly Polymorphic Segmental Copy-Number Variations Observed in Japanese by BAC-Array-CGH

Figure 3

Characterization of a loss-type CNV detected on a BAC-clone RP11-89B15. A genome map of the RP11-89B15-containing region was obtained from the UCSC Genome Browser website. The distance (bp) from the p-terminal of chromosome 7 is shown in the uppermost part. That region contains the gene which is the gene mesenchyme homeobox 2 (MEOX2). The positions of PCR primers examined are shown by solid boxes. The experimental conditions are described more precisely in the text. The relative copy number of each site was normalized using the quantity of the amplified segment of a portion of a different chromosome (Chromosome 16) as a standard (relative copy number = 2) and was shown as mean ± SD ( ). The individual (Case A) has variant fragments with a deletion that contains the 1st exon and 5′-end of the MEOX2 gene.
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