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

Figure 2

Typical patterns of CNVs detected on the BAC clone (RP11-88L18) from Southern blot analyses after PFGE. Very complicated segmental duplication patterns are present in the region of this BAC clone. The electrophoresis pattern showed the complicated patterns according to the segmental duplication. When the fragment length of the “Gain” (lanes; 1, 2, 4) was compared with “Normal” (lane 3), the segment sizes of the three (lanes; 1, 2, 4) individuals were larger than those (shown by arrows) of “Normal.” That is, as those three contained a larger number of core segments, the signals on the BAC spot were stronger than normal. So, those three were identified as “Gain.”