Genetic Mapping of the Mutant Locus Underlying FEPS
(A) Pedigree segregating FEPS. Microsatellite haplotypes spanning the linkage peak on chromosome 8q12.1–8q24.1 identified in the whole-genome scan. The haplotypes shown were reconstructed using markers from the whole-genome scan and fine-mapping stages. The haplotype cosegregating with the pain phenotype is shown in red. The minimal critical region spans 25 cM and is flanked by marker D8S1775 on the centromeric end and marker D8S1762 on the telomeric end (informative recombinants individuals being III:8 and II:5, respectively). Only individuals included in the linkage analysis are shown (individuals with an asterisk were unavailable for genotyping).
(B) Multipoint LOD scores obtained on chromosome 8 (including fine-mapping markers) and location of the TRPA1 gene. Physical distance (in Mb) is shown at the top and genetic distance (in cM) at the bottom. The dotted lines indicate the LOD score thresholds of 3 and −2 (i.e., significant evidence for or against linkage, respectively).