Figure 1

The PLK1 gene locus and genetic variants. Structure of the PLK1 gene (panel A). Black boxes represent exons, the size of exons and regulatory regions are given in base pairs (bp), they are not drawn to scale. The 5′ and 3′UTR are highlighted in white. Sequenced regions are depicted by dashed lines. Positions of PLK1 polymorphisms are given according to the nomenclature of the Human Genome Variation Society [26]. Haploview plot of the linkage disequilibrium analysis of PLK1 polymorphisms in 120 healthy Caucasians (panel B). Numbers in squares are D’ values in percent. If no number is given for a pairwise comparison D’ is 100 percent. Black color indicates an r² of 1, shades of grey/black indicate an r² between 1 and 0. White indicates an r² of 0. Haplotypes of the two haplotype blocks (panel C) and across the PLK1 gene (panel D). The haplotype frequencies are shown to the right of each haplotype. Only haplotypes having a frequency > =1% are shown. Below the crossing area the multi-allelic D’, which indicates the level of recombination between the blocks, is shown. Connecting lines from one block to the other are shown for haplotypes with a frequency of at least 10% (thick lines) and with a frequency of at least 1% (thin lines), respectively.