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

Figure 4

Characterization of a gain-type CNV detected on a BAC-clone RP11-79O18. A genome map of the RP11-79O18-containing region was obtained from the UCSC Genome Browser website. The distance (bp) from the p-terminal of chromosome 17 is shown in the uppermost part. That region contains two genes, that is, N-ethylmaleimide-sensitive factor (NSF) and wingless-type MMTV integration site family, member 3 (WNT3). The positions of PCR primers examined are shown by the solid boxes. The experimental conditions are described more precisely in the text. The individual (Case B) has variant fragments with gain type. For the individual showing a CNV, a part of region of the gene NSF was amplified (×3). However, no copy number change was observed in the region of WNT3.