Fig. 2: Structure of six DNA constructs for luciferase reporter assay.

The HPSE gene fragment of intron 2 was cloned via PCR using PCR II-TOPO vector. The enhancer fragments were digested with HindIII and XhoI and ligated into phosphatase-treated pGL4.26 (luc2/minP/Hygro) vector that was digested with the same enzymes. Six DNA constructs were prepared, three in the sense direction and three in the antisense direction. The constructs were named variant (Vr) A, B, and C, according to the linkage disequilibrium (LD) between SNPs and possibility of allele variants. SNP rs4693608 is marked in bold