Table 3

Reported major rearrangements analysed by the UPQFM-PCR assay set

Trivial name Characterised major rearrangement Exons detected by UPQFM-PCR set First reported
FH Bologna-1Δ prom-exon 6Δ exons 3 & 528
—Δ prom-exon 6Δ exons 3 & 55
FH Aarhus-4Δ exons 2-5Δ exons 3 & 536
FH PaviaΔ exons 2-12Δ exons 3, 5 & 837
FH Aarhus-2Δ exons 3-6Δ exons 3 & 538
FH MassaΔ exons 3-10Δ exons 3, 5 & 839
FH Aarhus-3Δ exon 5Δ exon 538
FH Leiden-1Δ exon 7-8Δ exon 840
FH MacerataΔ exons 13-14Δ exon 1441
FH RomeΔ exons 13-14Δ exon 1439
FH PotenzaΔ exons 13-15Δ exon 1442
FH Aarhus-1Δ exon 17Δ exon 1738
FH Salerno∇ exons 9-14∇ exon 1430
FH Bologna-2∇ exons 13-15∇ exon 1441
FH Viterbo∇ exons 16-17∇ exon 1728

  • Deletions are shown by Δ and duplictions are shown by ∇.