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

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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.

Edité par CCSD ; Nature Publishing Group -

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.

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