A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy
Figure 3
Characterization of the deletion breakpoints. (a) Electropherogram demonstrating the junction fragment resulting from the large deletion in the XP-V patients. Partial representation of introns 9 and 10 with the 35 bp breakpoint overlap framed in red. (b) Nucleotide sequence alignment of the genomic sequence of introns 9 and 10 of the POLH gene. Short vertical lines indicate matched bases between both introns. (c) Schematic representation of the deletion breakpoints and their flanking Alu Sq2 elements. (1) represents a normal gDNA fragment and (2) schematizes the mutated gDNA with a deletion of 3925 bp.
