Table 4

LDLR major rearrangements detected in the two UK FH groups

Patient FH group LDLR exons deleted or duplicated (UPQFM- PCR) Characterisation of major rearrangement
(exon boundaries)
AAdultDuplication ex8, 14 & 17 or deletion ex3 & 5Duplication ex8-17 or deletion ex3-54-150
B4-151 PaediatricDuplication ex8Duplication ex8-104-152
C4-151 PaediatricDuplication ex8, 14 & 17 or deletion ex3 & 5Duplication ex7-184-152
  • Exon boundaries of the LDLR major rearrangement were characterised by quantitative fluorescent multiplex PCR as described in the text.

  • 4-150 No characterisation could be carried out as only a little DNA was extracted from the small volume of blood.

  • 4-151 Rearrangements confirmed in affected relatives.

  • 4-152 Unreported mutations.