The X-linked lymphoproliferative syndrome (XLP) is an inherited immunodeficiency 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.

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

Porta G.;
1996-01-01

Abstract

The X-linked lymphoproliferative syndrome (XLP) is an inherited immunodeficiency 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.
1996
1996
Cosmid contig; Interstitial deletions; X-linked lymphoproliferative syndrome
Lamartine, J.; Nichols, K. E.; Yin, L.; Krainer, M.; Heitzmann, F.; Bernard, A.; Gaudi, S.; Lenoir, G. M.; Sullivan, J. L.; Ikeda, J. E.; Porta, G.; Schlessinger, D.; Romeo, G.; Haber, D. A.; Sylla, B. S.; Harkin, D. P.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11383/2169639
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