Figure 1

The PAPD1-MAP3K8 gene region on chromosome 10. Tracks indicate (from top to bottom): position in the human genome chromosome 10, NCBI build 34; annotated genes; regions where resequencing of the amplified fragments has been attempted; sequenced BAC clones; SNPs identified in the clone overlaps; polymorphisms genotyped in up to 765 UK and USA families with two affected offspring; SNP rs or ss numbers; a plot showing -log(P-value) for association in up to 765 families with red line at 1.3 corresponding to P = 0.05; linkage disequilibrium (LD) plots for SNPs with minor allele frequency > 0.1 showing pairwise LD by colour ranging from red (high D') or dark green (high r²), indicating strong LD, to white, indicating weak or no LD between SNPs. LD plots have been generated using Haploview [27].