Fig. 3.
RT-PCR analysis demonstrates BRCA1 c.5332+4delA leads to exon 21 skipping. a RT-PCR products run on QIAxcel Advanced System from QIAGEN. An extra band was observed in the patient, but not in controls. b Electropherogram from ABI 3730xl DNA analyzer showing that the variant causes exon 21 skipping. The boundary of exons is marked by red arrow. c Semi-quantitative fragment analysis of RNA transcripts from the patient and controls