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Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes.
Am J Med Genet. 2000 Nov 06; 95(1):43-8.AJ

Abstract

Heterozygosity probabilities P(het) for relatives of isolated cases produced by incompletely penetrant autosomal dominant genes and recurrence risks for their offspring, R = P(het).K/2, where K is the penetrance value, have been calculated in the literature for some simple particular situations. Bayes theorem and elements from the theory of finite difference equations enabled us to derive the heterozygosity probability for any individual belonging to a pedigree containing an isolated case affected with an incompletely penetrant autosomal dominant disorder. The generalized formula here derived is valid for most particular cases thus far studied in the literature.

Authors+Show Affiliations

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. otto@usp.brNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11074493

Citation

Otto, P A., and S R. Maestrelli. "Heterozygosity Probabilities for Normal Relatives of Isolated Cases Affected By Incompletely Penetrant Conditions and the Calculation of Recurrence Risks for Their Offspring. I. Autosomal Dominant Genes." American Journal of Medical Genetics, vol. 95, no. 1, 2000, pp. 43-8.
Otto PA, Maestrelli SR. Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes. Am J Med Genet. 2000;95(1):43-8.
Otto, P. A., & Maestrelli, S. R. (2000). Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes. American Journal of Medical Genetics, 95(1), 43-8.
Otto PA, Maestrelli SR. Heterozygosity Probabilities for Normal Relatives of Isolated Cases Affected By Incompletely Penetrant Conditions and the Calculation of Recurrence Risks for Their Offspring. I. Autosomal Dominant Genes. Am J Med Genet. 2000 Nov 6;95(1):43-8. PubMed PMID: 11074493.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes. AU - Otto,P A, AU - Maestrelli,S R, PY - 2000/11/14/pubmed PY - 2001/2/28/medline PY - 2000/11/14/entrez SP - 43 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 95 IS - 1 N2 - Heterozygosity probabilities P(het) for relatives of isolated cases produced by incompletely penetrant autosomal dominant genes and recurrence risks for their offspring, R = P(het).K/2, where K is the penetrance value, have been calculated in the literature for some simple particular situations. Bayes theorem and elements from the theory of finite difference equations enabled us to derive the heterozygosity probability for any individual belonging to a pedigree containing an isolated case affected with an incompletely penetrant autosomal dominant disorder. The generalized formula here derived is valid for most particular cases thus far studied in the literature. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11074493/Heterozygosity_probabilities_for_normal_relatives_of_isolated_cases_affected_by_incompletely_penetrant_conditions_and_the_calculation_of_recurrence_risks_for_their_offspring__I__Autosomal_dominant_genes_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2000&volume=95&issue=1&spage=43 DB - PRIME DP - Unbound Medicine ER -