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Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis

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Abstract

We have mainly used 3 highly polymorphic DNA markers, 3′HVR (D16S85), 16AC2.5 (D16S291) and SM7 (D16S283), flanking the PKD1 region on chromosome 16p13.3 to establish linkage status in seven Icelandic families with autosomal dominant polycystic kidney disease (ADPKD). In four families, the disease locus is in the PKD1 region, and three families are “unlinked” to chromosome 16p13.3. In one of the “unlinked” families, the disease locus is excluded from a part of the long arm of chromosome 2, and we support a theory of more than 2 loci being responsible for ADPKD. Our data confirm the location of the locus YNH24 (D2S44) to chromosome 2q13-q24.

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Authors and Affiliations

  1. Department of Medical Genetics, The Blood Bank, IS-101, Reykjavík, Iceland

    Ragnheiður Fossdal & Ólafur Jensson

  2. Department of Medicine, National University Hospital, IS-101, Reykjavík, Iceland

    Magnus Böðarsson & Páll Ásmundsson

  3. Department of Medicine, Municipal Hospital, IS-108, Reykjavík, Iceland

    Jóhann Ragnarsson

  4. Department of Human Genetics, Sylvius Laboratory, Leiden University, Leiden, Holland

    Dorien Peters & Martijn H. Breuning

Authors
  1. Ragnheiður Fossdal
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  2. Magnus Böðarsson
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  3. Páll Ásmundsson
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  4. Jóhann Ragnarsson
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  5. Dorien Peters
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  6. Martijn H. Breuning
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  7. Ólafur Jensson
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Fossdal, R., Böðarsson, M., Ásmundsson, P. et al. Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis. Hum Genet 91, 609–613 (1993). https://doi.org/10.1007/BF00205089

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  • DOI: https://doi.org/10.1007/BF00205089

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