Chromosomal rearrangement segregating with adrenoleukodystrophy: A molecular analysis

George H. Sack, Mathew Alpern, Thomas Webster, Robert P. Feil, James C. Morrell, Grace Chen, Winston Chen, C. Thomas Caskey, Hugo W. Moser

Research output: Contribution to journalArticlepeer-review


The relationship between X chromosome-linked adrenoleukodystrophy and the red/green color pigment gene cluster on Xq28 was investigated in a large kindred. The DNA in a hemizygous male showed altered restriction fragment sizes compatible with at least a deletion extending from the 5′ end of the color pigment genes. Segregation analysis using a DNA probe within the color pigment gene cluster showed significant linkage with adrenoleukodystrophy (logarithm of odds score of 3.19 at θ = 0.0). These data demonstrate linkage, rather than association, between a unique molecular rearrangement in the color pigment gene cluster and adrenoleukodystrophy. The DNA changes in this region are thus likely to be helpful for determining the location and identity of the responsible gene.

Original languageEnglish (US)
Pages (from-to)9489-9493
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number20
StatePublished - Oct 15 1993


  • Genetic disease
  • Linkage
  • Mutation
  • Neurodegeneration
  • X chromosome

ASJC Scopus subject areas

  • General

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