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- Title
Calculating risk changes after negative mutation test outcomes for autosomal dominant hereditary late-onset disorders.
- Authors
Bonke, B.; Tibben, A.; Lindhout, D.; Stijnen, T.
- Abstract
We demonstrate, in a specific scenario, the effect of negative test results from relatives in families at risk for an autosomal dominant hereditary late-onset disorder. A hypothetical pedigree, of a family at risk of Huntington's disease, was used to demonstrate the consequences for the risk status of various family members in the case where relatives have been tested, and found to be mutation negative. We argue that accurate assessment of conditional probabilities in clinical genetics is important for individuals at risk for hereditary disorders with Mendelian transmission patterns; our formulae offer the opportunity – when simplifying assumptions are met – to determine the changed risk status of individuals in such cases.Heredity (2006) 96, 259–261. doi:10.1038/sj.hdy.6800790; published online 4 January 2006
- Subjects
GENETIC mutation; HUNTINGTON disease; MEDICAL genetics; HEREDITY; BAYESIAN analysis; GENETIC disorders
- Publication
Heredity, 2006, Vol 96, Issue 3, p259
- ISSN
0018-067X
- Publication type
Article
- DOI
10.1038/sj.hdy.6800790