Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region

Eur J Hum Genet. 1996;4(6):342-51. doi: 10.1159/000472230.


The X-linked lymphoproliferative syndrome (XLP) is an inherited immuno-deficiency to Epstein-Barr virus infection that has been mapped to chromosome Xq25. Molecular analysis of XLP patients from ten different families identified a small interstitial constitutional deletion in 1 patient (XLP-D). This deletion, initially defined by a single marker, DF83, known to map to interval Xq24-q26.1, is nested within a previously reported and much larger deletion in another XLP patient (XLP-739). A cosmid minilibrary was constructed from a single mega-YAC and used to establish a contig encompassing the whole XLP-D deletion and a portion of the XLP-739 deletion. Based on this contig, the size of the XLP-D deletion can be estimated at 130 kb. The identification of this minimal deletion, within which at least a portion of the XLP gene is likely to reside, should greatly facilitate efforts in isolating the gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Cell Line
  • Chromosomes, Artificial, Yeast
  • Cloning, Molecular
  • Cosmids
  • Gene Deletion
  • Genetic Linkage
  • Humans
  • Lymphoproliferative Disorders / genetics*
  • Male
  • Restriction Mapping*
  • Syndrome
  • X Chromosome*