Pedigrees of the ten families included in this study
Squares indicate males, circles represent females, filled shapes indicate affected individuals, and half-filled shapes indicate carriers. A double line between shapes is indicative of consanguinity. Arrows indicate individuals geno-typed for prenatal diagnosis. The haplotypes of the mutant alleles are boxed. D3S1029, D3F15S2, D3S1235, D3S1573, D3S1076, and D3S2 are polymorphic markers of 3p21. C7/PvuII, intragenic PvuII polymorphism; C7/Alul, intragenic AluI polymorphism; C7/E22-24, C7/E74-76, and C7E103-104, heteroduplexes in the region of type VII collagen gene exons 22–24, 74–76, and 103–104, respectively. All other C7 designations refer to the mutation in COL7A1 in the family (Table 2).