Expected molecular weights (bp) of amplicons from IS-PCR and RT-NPCR assays to detect intron 1 inversions
F8 allele . | IS-PCR diagnostic Inv1 . | First RT-NPCR . | Second RT-NPCR . |
---|---|---|---|
Male | |||
N | 304 | 413 | — |
Inv1 | 224 | — | 500 |
Del 1-2 | — | — | — |
Female (or male with >1 F8 gene or Xq28 segment) | |||
N/N | 304 | 413 | — |
N/Inv1 | 304; 224 | 413 | 500 |
N/Del 1-2 | 304 | 413 | — |
F8 allele . | IS-PCR diagnostic Inv1 . | First RT-NPCR . | Second RT-NPCR . |
---|---|---|---|
Male | |||
N | 304 | 413 | — |
Inv1 | 224 | — | 500 |
Del 1-2 | — | — | — |
Female (or male with >1 F8 gene or Xq28 segment) | |||
N/N | 304 | 413 | — |
N/Inv1 | 304; 224 | 413 | 500 |
N/Del 1-2 | 304 | 413 | — |
Del 1-2, any F8 gene deletion that significantly alters or removes the exon 1 to 2 splice site sequences and that does not produce a chimeric F8 exon 1/VBP1 sequence. Other abbreviations are explained in Table 3.