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. 2022 Mar 11;30(10):1187–1190. doi: 10.1038/s41431-022-01064-3

Fig. 1. Mobile element insertion (MEI) in exon 9 of the PALB2 gene.

Fig. 1

A Integrative Genomics Viewer visualization of reads used for bioinformatics detection. B MEI rebuilt sequence generated by bioinformatic analysis. The PALB2 reference sequence (NM_024675.3) is indicated in black, with intronic sequences shown in lowercase letters and exonic sequence shown in uppercase letters. The detected LINE type L2 insertion sequence is indicated in blue. The PALB2 fragment that was deleted at the insertion breakpoints is indicated in bold. The primer sequences used for Sanger sequencing confirmation are underlined. C Gel electrophoresis of PALB2 exon 9 polymerase chain reaction (PCR) products from one control individual (C) and the patient (P) showing an additional band in the P sample compared to the C sample that corresponds to the allele with the insertion. D Schematic representation of the LINE type L2 element inserted into exon 9 of PALB2 and Sanger sequencing of the PCR product shown in C that confirmed the in silico rebuilt sequence.