The genetic defect in the de Sanctis-Cacchione syndrome
| Autor: | Dirk Bootsma, W. Keijzer, Wim J. Kleijer, Vazken M. Der Kaloustian, E.A. de Weerd-Kastelein |
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| Rok vydání: | 1974 |
| Předmět: |
Male
Xeroderma pigmentosum Adolescent DNA Repair Ultraviolet Rays Dermatology Biology Hybrid Cells De Sanctis-Cacchione Syndrome Biochemistry Cell Fusion Neurologic Manifestations Intergenic region Intellectual Disability medicine Humans Child Molecular Biology Cells Cultured Skin Genetics Xeroderma Pigmentosum Sex Chromosomes integumentary system Infant Heterozygote advantage Cell Biology DNA Syndrome Fibroblasts medicine.disease Molecular biology Pedigree Complementation Radiation Effects Karyotyping Cell hybridization Autoradiography Female DNA repair synthesis |
| Zdroj: | The Journal of investigative dermatology. 63(5) |
| ISSN: | 0022-202X |
| Popis: | A family with five children affected with the de Sanctis-Cacchione (DSC) syndrome is presented. Ultraviolet light-induced DNA repair synthesis, as measured by autoradiography as well as by isopyknic centrifugation was studied in cell strains from three affected members and their heterozygote parents. Similar, low amounts of repair synthesis were found in the cells of all patients. In cell strains from the heterozygous parents a reduced repair activity was demonstrated. Complementation studies with cell hybridization techniques were performed using cells of our patients, cells of one of our patients and those of an unrelated DSC patient, and cells of one of our patients and those of a classic xeroderma pigmentosum (XP) patient. The fusion of cells front a classic XP patient with those ot one of our DSC patients resulted in hybrids that had nomal amounts of repair synthesis. The hybrids resulting from the other fusions revealed very low or negligible repair activity. These results demonstrate genetics heterogeneity between DSC and classical XP cases. They strongly suggest either intergenic or interallelic complementation during hybridization between XP and DSC cells. |
| Databáze: | OpenAIRE |
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