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.
Original language | English |
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Pages (from-to) | 342-51 |
Number of pages | 10 |
Journal | European journal of human genetics : EJHG |
Volume | 4 |
Issue number | 6 |
Publication status | Published - 1996 |
Keywords
- Adolescent
- Cell Line
- Chromosomes, Artificial, Yeast
- Cloning, Molecular
- Cosmids
- Gene Deletion
- Genetic Linkage
- Humans
- Lymphoproliferative Disorders
- Male
- Restriction Mapping
- Syndrome
- X Chromosome