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
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.