Figure 3. .

Haplotype analysis in representative parents-offspring triads from three German families (F01, F02, and F05) and one French family, showing the p.Thr328Lys mutation, with use of 10 SNPs covering the complete genomic region of the F12 gene and the disease-causing mutation (c.1032C→A). SNPs without an “rs” number were identified as informative markers by sequencing analysis of F12 in the families (flanking sequences and assay conditions for the SNPs are available on request). Our results show that the disease-causing mutation is located on the same haplotype (red) in all four families segregating the Thr328Lys mutation, which is compatible with the hypothesis that the mutation goes back to a common founder.