title: Consanguinity sans reproche.
abstract: In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands.
authors.forename: L P
authors.initials: LP
authors.lastname: Ten Kate
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: M C
authors.initials: MC
authors.lastname: Cornel
authors.forename: J G
authors.initials: JG
authors.lastname: van Lookeren Campagne
mesh_terms: D000483:Alleles; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D011336:Probability