Skip to main content
. 2017 May 17;25(9):1087–1091. doi: 10.1038/ejhg.2017.81

Figure 1.

Figure 1

Alu insertions in PTEN exon 5 in two Cowden disease patients. Schematic representation of the Alu elements inserted into exon 5 of PTEN and Sanger sequencing of break points from mutant alleles for patient 1 (a) and patient 2 (b). The insertion was in an antisense orientation compared to the reference sequence. (c) Gel electrophoresis of PTEN exon 5 PCR products from two control individuals (C1 and C2), and patients 1998101 (P1) and 2001012 (P2) harboring a full-length Alu element (P1) and a truncated Alu element (P2). The additional bands are probably derived from heteroduplexes between the wild-type and mutant alleles, neither of which are present in the controls. TSD, target site duplication; W, water control.