Figure 1. Pedigree and haplotype of the family

A six-generation pedigree with 12 available affected members (indicated by the black symbols) is shown. IV:11 was the proband, which is indicated by the black arrow. Eight markers spanning the centromere were arrayed on the left in the genetic order on chromosome 12. The disease haplotype (represented by the black bar) cosegregated with all affected members from marker D12S1617 to D12S326 but was not shared with unaffected members. The obligate recombination occurred at the boundary markers, D12S310 and D12S351.