Advertisement

Research Article Free access | 10.1172/JCI115916

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

A Hovnanian, P Duquesnoy, C Blanchet-Bardon, R G Knowlton, S Amselem, M Lathrop, L Dubertret, J Uitto, and M Goossens

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Hovnanian, A. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Duquesnoy, P. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Blanchet-Bardon, C. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Knowlton, R. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Amselem, S. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Lathrop, M. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Dubertret, L. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Uitto, J. in: JCI | PubMed | Google Scholar

Laboratoire de Génétique moléculaire, Institut National de la Santé et de Recherche Médicale (INSERM) Unité 91, Hôpital Henri Mondor, Créteil, France.

Find articles by Goossens, M. in: JCI | PubMed | Google Scholar

Published September 1, 1992 - More info

Published in Volume 90, Issue 3 on September 1, 1992
J Clin Invest. 1992;90(3):1032–1036. https://doi.org/10.1172/JCI115916.
© 1992 The American Society for Clinical Investigation
Published September 1, 1992 - Version history
View PDF
Abstract

Generalized mutilating recessive dystrophic epidermolysis bullosa (RDEB) is characterized by extreme skin fragility owing to loss of dermal-epidermal adherence. Immunohistochemical studies have implicated type VII collagen, the major component of anchoring fibrils, in the etiology of RDEB. In this study, we demonstrate genetic linkage of the type VII collagen gene and the generalized mutilating RDEB phenotype. We first identified a Pvull polymorphic site by digestion of an amplified product of the type VII collagen gene, which was shown to reside within the coding region. Genetic linkage analysis between this marker and the RDEB phenotype in 19 affected families which were informative for this polymorphism showed no recombination events, and gave a maximum lod score of 3.97 at a recombination fraction (theta) of 0, demonstrating that this DNA region is involved in this form of RDEB. These data provide strong evidence that the type VII collagen gene, which has also been linked with the dominant form of the disease, harbors the mutation(s) causing the generalized mutilating form of RDEB in these families, thus underscoring the major functional importance of type VII collagen in basement membrane zone stability.

Images.

Browse pages

Click on an image below to see the page. View PDF of the complete article

Version history
  • Version 1 (September 1, 1992): No description
Advertisement
Advertisement