HLA and epidermolysis bullosa: Evidence for independent assortment of Weber-Cockayne Subtype of epidermolysis bullosa and HLA complex

Smita Vaidya, Stephen K. Tyring, Marcia Feldkamp, Lorraine B. Johnson, Jo David Fine

Research output: Contribution to journalArticle

Abstract

The purpose of this study was to examine the genetic linkage (but not the association) between HLA complex and Weber-Cockayne Subtype of epidermolysis bullosa (EBS-WC). We HLA typed 44 members of three multi-generation families in which 24 members have the clinical evidence of EBS-WC. The patterns of inheritance of various HLA haplotypes and the disease were mathematically analyzed to estimate frequency of recombination (i.e. genetic distance) between HLA complex and the disease by calculating Lod Scores for each family separately as well as all for three families combined. Our results show that only one family had a positive Lod Score. The Lod Scores for the remaining two families as well as the combined Lod Score for all three families were negative. These data suggest that odds are against the genetic linkage between HLA complex and Weber-Cockayne Subtype of epidermolysis bullosa and in favor of independent assortment of the disease and HLA complex.

Original languageEnglish (US)
Pages (from-to)155-160
Number of pages6
JournalJournal of Dermatological Science
Volume2
Issue number3
DOIs
StatePublished - May 1991

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Keywords

  • Epidermolysis bullosa
  • Genetic linkage
  • HLA
  • Independent assortment
  • Inheritance
  • Weber-Cockayne

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology

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