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  • Title: Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region.
    Author: Lamartine J, Nichols KE, Yin L, Krainer M, Heitzmann F, Bernard A, Gaudi S, Lenoir GM, Sullivan JL, Ikeda JE, Porta G, Schlessinger D, Romeo G, Haber DA, Sylla BS, Harkin DP.
    Journal: Eur J Hum Genet; 1996; 4(6):342-51. PubMed ID: 9043868.
    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.
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