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Figure 2 Electrophoresis of polymerase chain reaction (PCR) products after reverse transcriptase (RT)-PCR with primers located in exons 5/6 and 9 of the human MYBPC3 gene showing aberrant fragments resulting from the substitution of A for G at the splice donor site of exon 7 (IVS7+1G>A). The wild-type splice product is 233–base pair (bp) in length. Aberrant splice products resulting from the IVS7+1G>A mutation are either 184-bp (loss of exon 7) or 154-bp (loss of exons 7 and 8) in length. Lanes 1 and 2: RT-PCR products of patient 1331 carrying the IVS7+1G>A mutation; lane 3: negative control using water as a template; lanes 4 and 5: RT-PCR products of patient 1978 carrying the IVS7+1G>A mutation; lane 6: negative control using water as a template; lanes 7 and 8: RT-PCR products of control probands carrying only wild-type alleles. M = 100-bp ladder.
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