Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region.
Eur J Hum Genet
; 4(6): 342-51, 1996.
Article
em En
| MEDLINE
| ID: mdl-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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Mapeamento por Restrição
/
Transtornos Linfoproliferativos
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
França