Cancer genetics and cytogenetics, 1990-07, Vol.47 (2), p.163-169
1990
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Details
- Autor(en) / Beteiligte
- Titel
- Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)
- Ist Teil von
- Cancer genetics and cytogenetics, 1990-07, Vol.47 (2), p.163-169
- Ort / Verlag
- New York, NY: Elsevier Inc
- Erscheinungsjahr
- 1990
- Quelle
- ScienceDirect
- Beschreibungen/Notizen
- X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0165-4608eISSN: 1873-4456DOI: 10.1016/0165-4608(90)90026-7Titel-ID: cdi_proquest_miscellaneous_79859377
- Format
- –
- Schlagworte
- Adult, Biological and medical sciences, Chromosome Banding, Chromosome Deletion, Genetic Linkage, Hematologic and hematopoietic diseases, Humans, Karyotyping, Lymphoproliferative Disorders - genetics, Male, Medical sciences, Pedigree, Polymorphism, Restriction Fragment Length, restriction fragment length polymorphism, Restriction Mapping, X Chromosome