Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients (original) (raw)
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1988
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Cytogenetics and Cell Genetics
Research Articles| May 13 2008
aThe Laboratory of Cell Biology and Genetics, Erasmus University, Rotterdam (Netherlands), and
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bDepartment of Pathology, UCLA School of Medicine, Los Angeles. CA (USA)
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aThe Laboratory of Cell Biology and Genetics, Erasmus University, Rotterdam (Netherlands), and
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aThe Laboratory of Cell Biology and Genetics, Erasmus University, Rotterdam (Netherlands), and
Search for other works by this author on:
aThe Laboratory of Cell Biology and Genetics, Erasmus University, Rotterdam (Netherlands), and
Search for other works by this author on:
Cytogenetics and Cell Genetics (1988) 49 (4): 259–263.
Abstract
Cultured cells from patients with ataxia telangiectasia (AT) or Nijmegen breakage syndrome (NBS) are hypersensitive to ionizing radiation. After radiation exposure, the rate of DN A replication is inhibited to a lesser extent than in normal cells, whereas the frequency of chromosomal aberrations is enhanced. Both of these features have been used in genetic complementation studies on a limited series of patients. Here we report the results of extended complementation studies on fibroblast strains from 50 patients from widely different origins, using the radioresistant DNA replication characteristic as a marker. Six different genetic complementation groups were identified. Four of these, called AB, C, D, and E (of which AB is the largest), represent patients with clinical signs of AT. Patients having NBS fall into two groups, VI and V2. An individual with clinical symptoms of both AT and NBS was found in group V2, indicating that the two disorders are closely related. In AT, any group-specific patterns with respect to clinical characteristics or ethnic origin were not apparent. In addition to the radiosensitive ATs, a separate category of patients exists, characterized by a relatively mild clinical course and weak radiosensitivity. It is concluded that a defect in one of at least six different genes may underlie inherited radiosensitivity in humans. To facilitate research on defined defects, a complete list of genetically characterized fibroblast strains is presented.
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© 1988 S. Karger AG, Basel
1988
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