Alternative splicing events in IVS 7 + 2T > G variant. (A) RT-PCR analysis of EBV-transformed lymphoblastoid cell line (GM05920) and mouse ES cells expressing WT and human BRCA2 transgene. FL indicates fragment of a full-length product. Schematic representation of the genomic region analyzed for alternate transcript expression is shown at the top. Numbers above the colored boxes represent exon numbers. Arrows indicate the primers used for RT-PCR analysis. Quantification of different transcripts is shown on right panel. (B) RT-PCR analysis of mouse ES cells expressing either WT or IVS7 + 2T > G human BRCA2 transgenes. (C) Schematic representation of the alternative splicing that deletes exon 7. Exon numbers are indicated above the colored boxes representing the different exons. Arrows correspond to the position of the primers used for RT-PCR. (♦) represents the stop codon. (D) Sequence analysis of RT-PCR product reveals the deletion of exon 7, exons 3-7, and exons 4-7.