A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral.

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Copyright © 2000 American Medical Association. All rights reserved.

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Copyright © 2001 American Medical Association. All rights reserved.

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A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral Allele Thomas N. Darling, Brian B. Koh, Sherri J. Bale, John G. Compton, Johann W. Bauer, Helmut Hintner, Kim B. Yancey Journal of Investigative Dermatology Volume 110, Issue 2, Pages 170-173 (February 1998) DOI: 10.1046/j.1523-1747.1998.00101.x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 The mutant COL17A1 alleles in five Austrian families with generalized atrophic benign epidermolysis bullosa exhibit the same haplotype for five intragenic polymorphisms. The pedigrees for families A–E are shown. Symbols are encoded as follows: white, homozygous normal individual; black, homozygous 4003delTC; white and black, heterozygous for 4003delTC. Deceased individuals are indicated by a slash, including the affected family member (II-11) who died in infancy. The affected individuals in families D and E are heterozygous for 4003delTC and possess distinct nonsense mutations in COL17A1 on the paternally inherited alleles (indicated by diagonal lines). Haplotypes for each allele are displayed below the symbols, with the 4003delTC allele contained within a box. The deduced haplotypes for each allele of individual I-2 in family A are shown in brackets. Individuals without a haplotype in this figure are those from whom DNA was not available. Journal of Investigative Dermatology 1998 110, 170-173DOI: (10.1046/j.1523-1747.1998.00101.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Microsatellite polymorphisms flanking COL17A1 are shared on the mutant alleles in five GABEB families. Symbols and haplotypes are designated as in Fig 1. The relative positions of the markers are from centromeric at the top to distal at the bottom. The COL17A1 gene in this map is located between D10S467 and D10S1246.–, not done. A possible double recombination between D10S1795 and its flanking markers is shown in individual III-2 by horizontal lines above and below the polymorphism (see text for additional details). Journal of Investigative Dermatology 1998 110, 170-173DOI: (10.1046/j.1523-1747.1998.00101.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 A single ancestral COL17A1 allele is evident for the intragenic and flanking polymorphisms in affected individuals from families A- Journal of Investigative Dermatology 1998 110, 170-173DOI: (10.1046/j.1523-1747.1998.00101.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

E. This figure compiles the data from Figs 1 and 2 for the specified affected individuals from all five GABEB families. In addition, four microsatellite polymorphisms more distal from COL17A1 are included. The haplotypes for each mutant allele are shown in vertical columns. Regions of a common haplotype are enclosed within shaded boxes. A shared haplotype was not observed for the more distal polymorphisms D10S608, D10S192, D10S209, and D10S214, and these polymorphisms were not assigned to a specific allele as indicated by the commas. The ordering of the markers is again according to the Locus Data Base map of March 1996. The approximate distances between microsatellite markers are also shown, using D10S597 as a reference point. Distances are reported in cM (Dib et al, 1996) as well as in Mb for the four microsatellite markers physically mapped at this time (Stanford Human Genome Center G3 Radiation hybrid map, May 12, 1997). Journal of Investigative Dermatology 1998 110, 170-173DOI: (10.1046/j.1523-1747.1998.00101.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions