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.
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Acknowledgements
We thank Dr. A. Harris for providing cell lines. We thank also Dr. D. LePallier for making accessible to us the CEPH mega-YAC library. We thank the ICRF for providing us filters for X chromosome cosmid library. The technical help of S. Pauly, M.-F. Lavoué, and C. Bonnardel is gratefully acknowledged. We also thank Dr. S. Jones for editing the manuscript. This work was supported in part by the Ligue Nationale Française contre le Cancer, Comité Départemental du Rhône. F. Heitzmann was supported by a fellowship from the Ligue Nationale Française contre le Cancer, Comité Départemental de l’Yonne. D. Haber and K. Nichols were supported by grants from NIH (CA4498 for D.H. and NIH CA4509 for K.N.). M. Krainer was supported by a grant from Erwin-Schrödinger-Stipendium, Fonds zur Förderung der Wissenschaftlichen Forschung. G. Porta was funded by the Associazione Italiana Ricerca sul Cancro and the Telethon e 294.
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Lamartine, J., Nichols, K.E., Yin, L. et al. Physical Map and Cosmid Contig Encompassing a New Interstitial Deletion of the X-Linked Lymphoproliferative Syndrome Region. Eur J Hum Genet 4, 342–351 (1996). https://doi.org/10.1159/000472230
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DOI: https://doi.org/10.1159/000472230
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