Cytogenetic characterization of ataxia telangiectasia (AT) heterozygotes using lymphoblastoid cell lines and chronic ?-irradiation
| Autor: | Manjula Waghray, Pinar T. Ozand, Sultan T. Al-Sedairy, Mohammed A. Hannan |
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| Rok vydání: | 1990 |
| Předmět: |
Heterozygote
medicine.medical_specialty Cell Biology Cell Line Ataxia Telangiectasia Immunopathology Genetics medicine Chromosomes Human Humans Genetics (clinical) Chromosome Aberrations Genetic Carrier Screening Cytogenetics Dose-Response Relationship Radiation Heterozygote advantage Chromosome Fragility medicine.disease Molecular medicine Molecular biology Human genetics medicine.anatomical_structure Gamma Rays Ataxia-telangiectasia Immunology |
| Zdroj: | Human Genetics. 84 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00210804 |
| Popis: | Lymphoblastoid cell lines (LCLs) derived from two patients identified as ataxia telangiectasia (AT), two obligate AT heterozygotes and two controls (healthy subjects with no known genetic disease or relationship to AT patients) were compared with respect to the induction of chromosomal breaks by acute and chronic gamma-irradiation. Although there was a considerable increase in the frequency of chromosomal breaks per cell in the LCLs of AT patients resulting from acute irradiation, the small increase occurring in the LCLs of the AT heterozygotes made it difficult to distinguish them from the controls. Following chronic gamma-irradiation, however, the frequency of chromosomal breaks per cell in the LCLs of the AT heterozygotes occupied a significantly distinct position from that of the controls. These observations suggested that the use of chronic irradiation may be a better choice in the cytogenetic characterization of AT heterozygotes. |
| Databáze: | OpenAIRE |
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