Characteristics of Highly Polymorphic Segmental Copy-Number Variations Observed in Japanese by BAC-Array-CGH
Figure 1
(a) Typical patterns of CNVs detected on the BAC clone (RP11-79F15) from Southern blot analyses after PFGE. (b) The Genome Map from the UCSC genome Browser. (a) The figure illustrated the pattern from three individuals showing gain on the array and one showing normal on the array. When the fragment length of the “Gain” (lanes; 1, 3, 4) was compared with “Normal” (lane 2), the segment sizes of the three (lanes; 1, 3, 4) individuals were larger than those (shown by arrows) of “Normal.” As shown in (b), five segmental duplications existed at the 5′-region of the BAC clone. That is, as these three (lanes; 1, 3, 4) contained a larger number of core segments (shown by blocks in (b)), the signals on the BAC spot were stronger than normal. So, those three were identified as “Gain.”
