Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

Warren G. Sanger, Helen L. Grierson, James Skare, Herman Wyandt, Samuel Pirruccello, Renee Fordyce, David T. Purtilo

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Abstract

X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.

Original languageEnglish (US)
Pages (from-to)163-169
Number of pages7
JournalCancer genetics and cytogenetics
Volume47
Issue number2
DOIs
StatePublished - Jul 15 1990

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ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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