RT-PCR analyses of group B variants.

<p>For each variant, the RT-PCR products were characterized by agarose gel electrophoresis and sequencing. Gel images: lane 1, no template; lane 2, genomic DNA used as negative control of the RT-PCR reaction; lane 3, cDNA from the <i>BRCA1/BRCA2</i> wild-type LCL used as positive control; lane 4, cDNA from LCL carrying the UV. M, molecular marker (ΦX-174 HaeIII digest). The size of the full-length (FL) and aberrant transcripts are reported. Sequencing electropherogram data: (<b>B–G</b>) the RT-PCR products were directly sequenced; (<b>A, H</b>) the sequencing was performed after band excision or cloning step. (<b>H</b>) An additional band due to improper annealing of full-length and aberrant transcripts is shown by the asterisk. The Ex5del, visible in both sample and control is a naturally occurring isoform lacking exon 5. (<b>A</b>) In addition to the full-length and the Ex14del aberrant transcript, the naturally occurring isoform lacking the first 3 bp of exon 14 (Ex14_3 bp del) was observed. Ex, exon; I, intron.