SciELO - Scientific Electronic Library Online

 
vol.35 issue3Association of serum lipid components and obesity with genetic ancestry in an admixed population of elderly womenAssociation of a serotonin transporter gene (SLC6A4) 5-HTTLPR polymorphism with body mass index categories but not type 2 diabetes mellitus in Mexicans author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Genetics and Molecular Biology

Print version ISSN 1415-4757

Abstract

OTTO, Paulo A.  and  HORIMOTO, Andréa R.V.R.. Penetrance rate estimation in autosomal dominant conditions. Genet. Mol. Biol. [online]. 2012, vol.35, n.3, pp.583-588.  Epub Aug 02, 2012. ISSN 1415-4757.  https://doi.org/10.1590/S1415-47572012005000051.

Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; 3) specificity and heterogeneity issues; 4) penetrance rate estimates obtained through molecular testing of families; 5) lack of information about the phenotype of the pedigree generator; 6) genealogies containing grouped parent-offspring information; 7) ascertainment issues responsible for the inflation of K estimates.

Keywords : penetrance rate; maximum likelihood method; recurrence risks; genetic counseling.

        · text in English     · English ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License