Fig. 2

Schematic diagram of a duplex-nested ARMS-qPCR for PGD of a splicing-site point mutation, located at the junction of intron 10 and exon 11 of F8, c.1538-1G > A (bold letter). a Primers for duplex-nested PCR were first designed to amplify the region covering the position of the mutation. OF and OR indicate the outer primer set, and IF and IR indicate inner primer set. b Primers specific for the amplification of the wild-type (WT) and mutant (MU) alleles, respectively, were subsequently used for ARMS-qPCR where the duplex-nested PCR amplicon was used as DNA template. c Representative ARMS-qPCR results for wild-type control (homozygous WT/WT or hemizygous WT), female carrier (heterozygous WT/MU), and affected male individual (hemizygous MU)