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Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

✍ Scribed by Salomé Almeida; Edgar Almeida; Dorien Peters; José Reimão Pinto; Isabel Távora; João Lavinha; Martjn Breuning; Mateus Martins Prata

Publisher
Springer
Year
1995
Tongue
English
Weight
435 KB
Volume
96
Category
Article
ISSN
0340-6717

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Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred

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The polymorphic DNA probe VK5B (D16S94) was mapped by genetic linkage in families from the Centre d'Etude de Polymorphisme Humain (CEPH) as being in the same interval as the autosomal dominant adult polycystic kidney disease locus (PKD1). The maximum likelihood estimate of the genetic location of VK