Figure 4

The sequence characteristics of the breakpoint junction in the recurrent 8q13.2-13.3 deletion. A The raw sequence data from the 800 bp-size breakpoint junction. The black lines beneath the base calls represent four locus-specific SNPs used as landmarks in the breakpoint identification. First two SNPs (C and G) are located in HERVH-int1 and the latter two SNPs (G and C) are located in HERVH-int 2. B Alignment of the junction sequences from case 1 and 2. BLAST was used to compare the partial sequences of two HERV blocks (chr8:70,050,761-70,050,910, chr8:70,2752,500-72,752,649) with the 800 bp of nested PCR product. The four locus-specific SNP that differentiate the HERV blocks are highlighted in blue while two common SNPs are shown in red. The 87 bp recombination region is highlighted in yellow.