title: Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region.
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.
authors.affiliation: International Agency for Research on Cancer, Lyon, France.
authors.forename: J
authors.initials: J
authors.lastname: Lamartine
authors.forename: K E
authors.initials: KE
authors.lastname: Nichols
authors.forename: L
authors.initials: L
authors.lastname: Yin
authors.forename: M
authors.initials: M
authors.lastname: Krainer
authors.forename: F
authors.initials: F
authors.lastname: Heitzmann
authors.forename: A
authors.initials: A
authors.lastname: Bernard
authors.forename: S
authors.initials: S
authors.lastname: Gaudi
authors.forename: G M
authors.initials: GM
authors.lastname: Lenoir
authors.forename: J L
authors.initials: JL
authors.lastname: Sullivan
authors.forename: J E
authors.initials: JE
authors.lastname: Ikeda
authors.forename: G
authors.initials: G
authors.lastname: Porta
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: D A
authors.initials: DA
authors.lastname: Haber
authors.forename: B S
authors.initials: BS
authors.lastname: Sylla
authors.forename: D P
authors.initials: DP
authors.lastname: Harkin
mesh_terms: D000293:Adolescent; D002460:Cell Line; D018244:Chromosomes, Artificial, Yeast; D003001:Cloning, Molecular; D003360:Cosmids; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008297:Male; D015183:Restriction Mapping; D013577:Syndrome; D014960:X Chromosome