Figure 1.
Genetic structure of the ABO gene locus, including long-range PCR (LR-PCR) amplicon locations and positions of the 4 putative ABO∗A1-diagnostic variants. The coordinates above the gene and next to the PCR primers correspond to the reference sequence NG_006669.2 (LRG_792). Chromosomal coordinates of the first base pair of ABO reference gene on the current human genome reference (GRCh38.p13) is provided underneath the gene. Exons 1 to 7 are represented by black arrows, and the coding DNA sequence (CDS; reference transcript NM_020469.3) in red. The locations of the 2 overlapping LR-PCR amplicons (LR1 and LR2) used to amplify the ABO gene are highlighted by the striped area between both amplicons. The positions of the 4 putative ABO∗A1-specific variants found in this study are indicated by their respective rs numbers. For graphical clearness, the ABO gene is shown as reverse complement.