A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients

Figure 1

AluYa5 element insertion confirmed in seven patients (six patients and one additional patient-derived LCL (P7). (a) Schematic representation of AluYa5 element insertion in ATM intron 54 (chr11(GRCh37):g.108204725insAluYa5; NM_0000513:c.8010+30_8010+31insAluYa5). Not drawn to scale. (b) Sanger sequencing electropherogram across breakpoints of the AluYa5 element insertion after TA cloning showing the insertion breakpoint and the TSD of 17 bp. (c) Gel electrophoresis of PCR products from patients 1-7 (P1-7) and three control individuals (C1-3) using a forward primer located in ATM exon 54 and a reverse primer in ATM intron 54 showing the expected wild-type band of 257 bp as well as the additional band in the patients with the AluYa5 element insertion of 563 bp. GRCh37/hg19 was used as reference genome. Bp: basepairs; Ex: exon; In: intron; NTC: no template control; TSD: target site duplication.

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