ICELANDIC FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - FAMILIES UNLINKED TO CHROMOSOME 16P13.3 REVEALED BY LINKAGE ANALYSIS

Citation
R. Fossdal et al., ICELANDIC FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - FAMILIES UNLINKED TO CHROMOSOME 16P13.3 REVEALED BY LINKAGE ANALYSIS, Human genetics, 91(6), 1993, pp. 609-613
Citations number
31
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
91
Issue
6
Year of publication
1993
Pages
609 - 613
Database
ISI
SICI code
0340-6717(1993)91:6<609:IFWAPK>2.0.ZU;2-8
Abstract
We have mainly used 3 highly polymorphic DNA markers, 3'HVR (D16S85), 16AC2.5 (D16S291) and SM7 (D16S283), flanking the PKD1 region on chrom osome 16p13.3 to establish linkage status in seven Icelandic families with autosomal dominant polycystic kidney disease (ADPKD). In four fam ilies, the disease locus is in the PKD1 region, and three families are ''unlinked'' to chromosome 16p13.3. In one of the ''unlinked'' famili es, the disease locus is excluded from a part of the long arm of chrom osome 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) t o chromosome 2q13-q24.