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

• Published in: Human Genetics
• Main Authors: Fossdal, R, Bodvarsson, M, Asmundsson, P, Ragnarsson, J, Peters, D, Breuning, M H, Jensson, O
• Other Authors: Department of Medical Genetics, The Blood Bank, Reykjavík, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Springer Verlag 2011
• Subjects: Adult; Chromosomes; Human; Pair 16; Pair 2; Genetic Markers; Humans; Iceland; Polycystic Kidney; Autosomal Dominant; Polymerase Chain Reaction; Long Arm
• Online Access: http://hdl.handle.net/2336/122503; https://doi.org/10.1007/BF00205089

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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.