Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form

M M Humphries, D Sheils, M Lawler, G J Farrar, P McWilliam, P Kenna, D G Bradley, E M Sharp, E F Gaffney, M Young, Mark Lawler

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Abstract

DNA from members of a three-generation pedigree of Irish origin, displaying an autosomal dominant simplex form of epidermolysis bullosa of the epidermolytic, simplex, or Koebner variety (EBS2), was analyzed for linkage with a set of markers derived from the long arm of chromosome 1. Two-point analysis revealed positive lod scores for five of these markers, AT3 (Z = 2.107, theta = 0), APOA2 (Z = 1.939, theta = 0.15), D1S66 (Z = 1.204, theta = 0), D1S13 (Z = 1.026, theta = 0.15), and D1S65 (Z = 0.329, theta = 0.15). Multilocus analysis, incorporating the markers D1S19, D1S16, D1S13, APOA2, D1S66, AT3, and D1S65, resulted in a lod score of 3 maximizing at AT3. These data strongly support previous tentative indications of linkage between EBS2 and genetic markers on the long arm of chromosome 1.

Original languageEnglish
Pages (from-to)377-81
Number of pages5
JournalGenomics
Volume7
Issue number3
Publication statusPublished - Jul 1990

Keywords

  • Base Sequence
  • Chromosomes, Human, Pair 1
  • DNA
  • Epidermolysis Bullosa
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction

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    Humphries, M. M., Sheils, D., Lawler, M., Farrar, G. J., McWilliam, P., Kenna, P., Bradley, D. G., Sharp, E. M., Gaffney, E. F., Young, M., & Lawler, M. (1990). Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form. Genomics, 7(3), 377-81.