Frequent Loss of Genome Gap Region in 4p16.3 Subtelomere in Early-Onset Type 2 Diabetes Mellitus
Figure 2
Detailed structure of copy number loss of 1.3-Mb 4p16.3 subtelomeric region resolved by high-density tiling microarray. Log2 ratio (y-axis) was plotted using moving average along the genome position (x-axis). Four representative early-onset T2DM patients are shown as Figures 2(a), 2(b), 2(c), and 2(d), patient 1, 2, 3, and 4, respectively. For comparison, log2 ratio of the region of two healthy normal individuals is also displayed as Figures 2(e) and 2(f). Dark line represents copy number plot along the genome. Two light lines indicate normal range of average log2 ratios for probes among normal individuals. Dotted line shows median of average log2 ratio among normal individuals. Copy number losses are displayed as gray vertical bar. We defined two copy number classes, that is, “unchanged copy number” and “copy number loss.” “Unchanged copy number” was defined when the log2 ratio stays within the mean ± 1 SD distribution among the normal population. “Copy number loss” was called when the downward-deviation of log2 ratios exceeded a threshold of 1 SD from the median probe ratio.
