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

R Fossdal; M Böthvarsson; P Asmundsson; J Ragnarsson; D Peters; M H Breuning; O Jensson

doi:10.1007/BF00205089

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

Hum Genet. 1993 Jul;91(6):609-13. doi: 10.1007/BF00205089.

Authors

R Fossdal¹, M Böthvarsson, P Asmundsson, J Ragnarsson, D Peters, M H Breuning, O Jensson

Affiliation

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

PMID: 8340115
DOI: 10.1007/BF00205089

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromosomes, Human, Pair 16*
Chromosomes, Human, Pair 2*
Genetic Markers
Humans
Iceland
Polycystic Kidney, Autosomal Dominant / genetics*
Polymerase Chain Reaction

Substances

Genetic Markers