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

J Lamartine, K E Nichols, L Yin, M Krainer, F Heitzmann, A Bernard, S Gaudi, G M Lenoir, J L Sullivan, J E Ikeda, G Porta, D Schlessinger, G Romeo, D A Haber, B S Sylla, D P Harkin, Denis Harkin

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)342-51
Number of pages10
JournalEuropean journal of human genetics : EJHG
Volume4
Issue number6
Publication statusPublished - 1996

Keywords

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

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