Fig. 3.

Exon-trapping analysis and sequencing: a Polyacrylamide gel showed RT-PCR products. WT1 and WT2 exhibited one normal splicing RT-PCR product (442 bp); P1 exhibited a normal product of 442 bp and an additional band of 341 bp. b Sanger sequencing testified a loss of exon 20 of abnormal product compared to normal product of 442 bp. c The mosaicism level of NIPBL c.4321-1G > A was detected by pyrosequencing: the mutated allele 26.6% and the wild allele 73.4%