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...

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Veröffentlicht in:Human genetics 1991, Vol.86 (3), p.295-296
Hauptverfasser: TEN KATE, L. P, SCHEFFER, H, CORNEL, M. C, VAN LOOKEREN CAMPAGNE, J. G
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00202413