Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes

This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not iden...

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Detalles Bibliográficos
Autores principales: ten Kate, Leo P., Teeuw, Marieke, Henneman, Lidewij, Cornel, Martina C.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063838/
https://www.ncbi.nlm.nih.gov/pubmed/21475666
http://dx.doi.org/10.1007/s12687-010-0002-4
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author ten Kate, Leo P.
Teeuw, Marieke
Henneman, Lidewij
Cornel, Martina C.
author_facet ten Kate, Leo P.
Teeuw, Marieke
Henneman, Lidewij
Cornel, Martina C.
author_sort ten Kate, Leo P.
collection PubMed
description This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populations with a considerable number of consanguineous matings.
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spelling pubmed-30638382011-04-05 Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes ten Kate, Leo P. Teeuw, Marieke Henneman, Lidewij Cornel, Martina C. J Community Genet Short Communication This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populations with a considerable number of consanguineous matings. Springer-Verlag 2010-02-25 2010-03 /pmc/articles/PMC3063838/ /pubmed/21475666 http://dx.doi.org/10.1007/s12687-010-0002-4 Text en © The Author(s) 2010 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Short Communication
ten Kate, Leo P.
Teeuw, Marieke
Henneman, Lidewij
Cornel, Martina C.
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
title Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
title_full Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
title_fullStr Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
title_full_unstemmed Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
title_short Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
title_sort autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063838/
https://www.ncbi.nlm.nih.gov/pubmed/21475666
http://dx.doi.org/10.1007/s12687-010-0002-4
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