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

J. Lamartine (1) , 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

1 CGPhiMC - Centre de génétique et de physiologie moléculaire et cellulaire

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.

Domaines: Biologie cellulaire

J. Lamartine, K. E. Nichols, L. Yin, M. Krainer, F. Heitzmann, et al.. Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region.. European Journal of Human Genetics, 1996, 4 (6), pp.342-51. ⟨hal-00180964⟩