title: Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)
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.
authors.affiliation: Department of Pediatrics, University of Nebraska Medical Center, Omaha 68105-1065.
authors.forename: W G
authors.initials: WG
authors.lastname: Sanger
authors.forename: H L
authors.initials: HL
authors.lastname: Grierson
authors.forename: J
authors.initials: J
authors.lastname: Skare
authors.forename: H
authors.initials: H
authors.lastname: Wyandt
authors.forename: S
authors.initials: S
authors.lastname: Pirruccello
authors.forename: R
authors.initials: R
authors.lastname: Fordyce
authors.forename: D T
authors.initials: DT
authors.lastname: Purtilo
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D014960:X Chromosome