Pedigrees of FMFD families with informative haplotypes from selected markers.

For clarity, only a subset of additional markers between the backbone markers of Figure 1 is shown. The open rectangle demarcates the candidate gene region, which comprises only homozygous markers. Markers in the rectangle, presumably inherited identical by descent (IBD), are denoted in bold. The 4 parenteral haplotypes are indicated by the various box patterns. Combination of 2 box patterns in one haplotype indicates a recombination event. Family A (panel A) is of Lebanese origin; the parents are first-degree cousins. Haplotype analysis implies a heterozygous carrier state for individuals II:5 and II:7. However, this cannot be proven since the biochemical assay does not differentiate between wild-type and heterozygous carrier. The nuclear family B (panel B) originates in Germany and parents claim to be not related, although their ancestors lived in neighboring villages.