Table 1 Genetic variants found in the study
VariationKeyAllele countsHaplotypes and frequency
DNAProteinvCJD (n = 107)sCJD (n = 415)HC (n = 861)*1*1A*1B*2*2A*2B*2C
c.216_227delAGC CGGGGCGGCp.Ala72_Ala75delwt:del214:0830:01718:4wtdel§wtwtwtwtdel§
c.239_240insGGC GGGAGCGGCp.Ala79_Ala80ins AlaAlaGlyAlawt:ins214:0830:01721:1wtwtinswtwtwtwt
vCJD152† (71)0†0†41† (19)19† (9)2† (1)0†
sCJD598‡ (72)0‡0‡158‡ (19)74‡ (9)0‡0‡
Control1151§ (67)3§ (<1)1§ (<1)379§ (22)187§ (11)1§ (<1)
  • del, Deletion; HC, healthy controls; ins, insertion; sCJD, sporadic Creutzfeldt–Jakob disease; vCJD, variant Creutzfeldt–Jakob disease; wt, wild type.

  • †vCJD.

  • ‡sCJD.

  • §Healthy controls.

  • Individual haplotypes and their frequencies, given as counts with percentages in parentheses, are displayed vertically, calculated by expectation-maximisation algorithm (Haploview).

  • Alleles and allele counts, together with a key to the allele counts, are displayed horizontally.

  • Insertion and deletion alleles are coded as wild type (wt) or ‘ins/del’ depending on the absence or presence of the indel variation compared with contig AL161645, respectively.