title: Estimation of penetrance from twin data.
abstract: A simple method for estimating the gene frequency p and the penetrance value K from data on polymorphic monogenic characteristics on monozygotic twin pairs is presented. In spite of the method here presented having limited value because the results it yields cannot be evaluated on their own, the estimates of p and K it provides can be indirectly tested by comparing them to the ones obtained in familial aggregates through classical segregation analysis or by using the latter to calculate the expected proportions of dominant-dominant, dominant-recessive and recessive-recessive monozygotic twin pairs. When the method is applied to data on tongue-rolling ability published in the literature, a good agreement is observed between twin and familial estimates, thus indicating that the method is reliable and that it can be used as an ancillary way of corroborating or otherwise evidence of monogenic autosomal dominant mechanism inferred from the analysis of familial data.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, SP, Brazil.
authors.forename: L A
authors.initials: LA
authors.lastname: Praxedes
authors.forename: P A
authors.initials: PA
authors.lastname: Otto
mesh_terms: D020090:Chromosome Segregation / Q000235:genetics; D003627:Data Interpretation, Statistical; D005787:Gene Frequency / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008957:Models, Genetic; D019683:Penetrance; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D018433:Twin Studies as Topic; D014430:Twins, Monozygotic / Q000235:genetics*