Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)
| Autor: | David T. Purtilo, Herman E. Wyandt, Warren G. Sanger, Renee Fordyce, Samuel J. Pirruccello, James Skare, Helen L. Grierson |
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| Rok vydání: | 1990 |
| Předmět: |
Adult
Male Cancer Research medicine.medical_specialty X Chromosome Genetic Linkage Restriction Mapping Locus (genetics) Biology Hypogammaglobulinemia Genetic linkage Genetics medicine Humans Molecular Biology X chromosome Hybridization probe Cytogenetics X-linked lymphoproliferative disease medicine.disease Lymphoproliferative Disorders Chromosome Banding Pedigree Karyotyping Chromosome Deletion Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Cancer Genetics and Cytogenetics. 47:163-169 |
| ISSN: | 0165-4608 |
| DOI: | 10.1016/0165-4608(90)90026-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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