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[Assessment of the risk of recurrence isolated cases of dominantly inherited diseases with incomplete penetrance and age-related dependence].
Genetika. 1988 May; 24(5):947-50.G

Abstract

A modification of the method for risk estimation in isolated cases of autosomal dominant disorders with reduced penetrance is presented. It is based on the Bayesian theorem and considers such parameters as fitness, age-specific expressivity of the gene and the effect of parental age on mutation rate. The definite expression of the risk estimation is proposed. Using hereditary polyposis as an example, possible risks are proposed. The table of risks, depending on the parental age, is given.

Authors

Bazhenova MD
No affiliation info available
Al'tshuler BA
No affiliation info available

MeSH

Adenomatous Polyposis ColiAgingBayes TheoremChromosome AberrationsChromosome DisordersGene FrequencyGenes, DominantGenetic Diseases, InbornGenetic TechniquesHumansRecurrenceRisk Factors

Pub Type(s)

English Abstract
Journal Article

Language

rus

PubMed ID

2843422

Citation

Bazhenova, M D., and B A. Al'tshuler. "[Assessment of the Risk of Recurrence Isolated Cases of Dominantly Inherited Diseases With Incomplete Penetrance and Age-related Dependence]." Genetika, vol. 24, no. 5, 1988, pp. 947-50.
Bazhenova MD, Al'tshuler BA. [Assessment of the risk of recurrence isolated cases of dominantly inherited diseases with incomplete penetrance and age-related dependence]. Genetika. 1988;24(5):947-50.
Bazhenova, M. D., & Al'tshuler, B. A. (1988). [Assessment of the risk of recurrence isolated cases of dominantly inherited diseases with incomplete penetrance and age-related dependence]. Genetika, 24(5), 947-50.
Bazhenova MD, Al'tshuler BA. [Assessment of the Risk of Recurrence Isolated Cases of Dominantly Inherited Diseases With Incomplete Penetrance and Age-related Dependence]. Genetika. 1988;24(5):947-50. PubMed PMID: 2843422.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Assessment of the risk of recurrence isolated cases of dominantly inherited diseases with incomplete penetrance and age-related dependence]. AU - Bazhenova,M D, AU - Al'tshuler,B A, PY - 1988/5/1/pubmed PY - 1988/5/1/medline PY - 1988/5/1/entrez SP - 947 EP - 50 JF - Genetika JO - Genetika VL - 24 IS - 5 N2 - A modification of the method for risk estimation in isolated cases of autosomal dominant disorders with reduced penetrance is presented. It is based on the Bayesian theorem and considers such parameters as fitness, age-specific expressivity of the gene and the effect of parental age on mutation rate. The definite expression of the risk estimation is proposed. Using hereditary polyposis as an example, possible risks are proposed. The table of risks, depending on the parental age, is given. SN - 0016-6758 UR - https://www.unboundmedicine.com/medline/citation/2843422/[Assessment_of_the_risk_of_recurrence_isolated_cases_of_dominantly_inherited_diseases_with_incomplete_penetrance_and_age_related_dependence]_ L2 - https://medlineplus.gov/geneticdisorders.html DB - PRIME DP - Unbound Medicine ER -