Premium
Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa
Author(s) -
Spence M. Anne,
Elston R. C.,
CedeKbaum S. D.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01703.x
Subject(s) - penetrance , retinitis pigmentosa , inheritance (genetic algorithm) , genetics , biology , genetic counseling , multifactorial inheritance , heterozygote advantage , x linked recessive inheritance , genetic inheritance , allele , genotype , gene , phenotype , x chromosome , single nucleotide polymorphism
A member of a large family with retinitis pigmentosa sought genetic counselling. Recessive inheritance could be discounted as highly unlikely but observation of the pedigree failed to distinguish between autosomal dominant inheritance with reduced penetrance, and X‐linked recessive inheritance with complete penetrance in some female heterozygotes. The difference in predicted recurrence risk under these two models of inheritance is quite striking. A computerized analysis of the likelihood function for the pedigree was undertaken and reveals the X‐linked model to be more than 1W times as likely as the autosomal dominant model.