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Digitale Medien

Unusual features in the inheritance of ataxia telangiectasia (1990)

Woods, C. G. ; Bundey, S. E. ; Taylor, A. M. R.

Springer

Human genetics 〈Berlin〉 84 (1990), S. 555-562

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Details

ISSN: 1432-1203

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie , Medizin

Notizen: 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00210809

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