Unusual features in the inheritance of ataxia telangiectasia |
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Authors: | C. G. Woods S. E. Bundey A. M. R. Taylor |
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Affiliation: | (1) Sub Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, B152TG Edgbaston, Birmingham, UK;(2) Department of Cancer Studies, Medical School, University of Birmingham, P.O. Box 363, B15 2TT Birmingham, UK |
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Abstract: | Summary A prevalence study of ataxia telangiectasia was conducted in the West Midlands, with a population of over 5 million. The prevalence in those aged 50 or less was found to be 1 in 514 000 and the birth frequency to be about 1 in 300 000. A genetic study of 47 families ascertained throughout the United Kingdom was carried out concurrently. A low parental consanguinity rate was found, no parents being first cousins or more closely related, whereas 10% had been expected. The incidence of ataxia telangiectasia in the 79 sibs of index cases was 1 in 7. These two features demonstrate that ataxia telangiectasia may not always be an autosomal recessive condition. Other possible explanations are that some cases are double heterozygotes or new dominant mutations. |
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