Figure 1.

Abridged pedigree and haplotype analysis of family 172. Skin (blue), lung (yellow), and kidney (red) phenotypes are indicated by the colored quadrants in the symbol for each individual. For linkage analysis, individuals with histologically positive fibrofolliculomas were considered to be affected. Marker order and genetic distance from the chromosome 17p telomere are indicated. Haplotypes were generated under the assumption that the smallest number of recombination events was present. Shaded boxes represent the affected haplotype commonly shared by family members with BHD. Genotypes in parentheses were inferred on the basis of data on relatives. Individual III-8 is an obligate carrier of the disease gene, because three of her children are positive for fibrofolliculomas. Individuals IV-9 and IV-11 are asymptomatic carriers of the affected haplotype. Critical recombinants IV-10 and III-6 define the BHD minimal region of linkage to an 8.5-cM distance between D17S918 and D17S1824.