Figure 4From: Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsLarge genomic duplication in the COL5A1 gene. A) MLPA analysis showed the duplication of exons 1–11 of the COL5A1 gene that was identified using the SALSA MLPA kits P331-A1 (upper panel) and P332-A1 (lower panel). The MLPA results were analyzed using GeneMarker® software. B) Affymetrix Human Mapping GeneChip 6.0 array analysis, which was performed to define the duplication size, revealed an approximately 191 kb duplication, including the COL5A1 proximal promoter region: chr9.hg19:g.(137,440,166_137,442,686)_(137,633,699_137,638,368)dup. The last normal probe (CN_1326371), the first duplicated probe (CN_1326372) at the 5’ end, the last duplicated probe (SNP_A-1952605), and the first normal probe (CN_383563) at the 3’ end define the duplicated area.Back to article page