Consanguinity sans reproche.
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.
Ten Kate
L P
LP
Department of Medical Genetics, University of Groningen, The Netherlands.
Scheffer
H
H
Cornel
M C
MC
van Lookeren Campagne
J G
JG
D000483:Alleles; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D011336:Probability