HECTD2 polymorphisms.

Sequencing of the open reading frame and putative promoter was carried out in 16 vCJD samples, 16 multiple exposure unaffected elderly women from PNG, 16 UK controls and 16 controls from PNG. rs7081363 was genotyped by allelic discrimination on a Real Time PCR machine (Applied Biosystems). It was not possible to genotype the kuru sample due to the quality of the DNA. The minor allele is in linkage disequilibrium (LD) with rs12249854 in the UK but not in PNG. The minor allele (A) eliminates an Sp1 binding site on the negative strand (−250 to −245). Based on the sequencing results the minor allele at promoter polymorphism at −184 and rs7920604 appear to be in LD with rs12249854 in both the UK and PNG. PNG – Papua New Guinea, ND – not done.