Table 4.

Expected molecular weights (bp) of amplicons from IS-PCR and RT-NPCR assays to detect intron 1 inversions

F8 alleleIS-PCR diagnostic Inv1First 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 alleleIS-PCR diagnostic Inv1First 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.

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