(A) Haplotypes A and B of SLC6A3 18-kb promoter region: 34 polymorphisms (32 SNPs and two variable number tandem repeats [VNTRs]) revealed by BAC alignment (AC091933 vs AC026748), each polymorphism indicated by two alleles (separated by '/') of two haplotypes; horizontal gray arrow: chromosome DNA, with coordinates for 18 kb upstream of ATG codon (black horizontal line) using the transcription start site as +1 (-14344∼-13381VNTR missed 58 bp in haplotype B; rs3055719 missed ‘GAAA’ in haplotype B). (B) A single copy number reporter vector pGL3eBelo1 developed to harbor SLC6A3 regulatory regions. Aquamarine, firefly luciferase gene (luc+); orange box, SV40 enhancer for luc+ expression; cos, the lambda cos site for packaging into phage lambda particles and facilitating cloning of large fragments; yellow arrow, the chloramphenicol-resistant gene. Cloning sites are labeled in bold; lacZα for recombination selection (see ‘Materials & methods’ section for description of construction). A unique FseI site located between luc+ and SV40 late poly(A) used for VNTR insertion is not shown here.
Please see colour figure at http://www.futuremedicine.com/doi/pdf/10.2217/pgs.13.141.