Blöðrunýrnasjúkdómur með ríkjandi erfðamáta á Íslandi : erfðafræðileg rannsókn

• Main Authors: Ragnheiður Fossdal, Magnús Böðvarsson, Páll G. Ásmundsson, Jóhann Ragnarsson, Runólfur Pálsson
• Format: Article in Journal/Newspaper
• Language: Icelandic
• Published: Læknafélag Íslands, Læknafélag Reykjavíkur 2009
• Subjects: Nýrnasjúkdómar; Stökkbreytingar; Ættgengi; Gen; Mutation; Genetic Screening; Kidney Failure; Chronic; Polycystic Kidney Diseases; Chromosomes; Human; Pair 16; Pair 4; Smella; Iceland
• Online Access: http://hdl.handle.net/2336/47877

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open Objective: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases in humans and accounts for 8-10% of end-stage renal failure. The disease is caused by mutations in at least three different genes. About 85% of families with ADPKD have a mutation in a gene (PKD1) on chromosome 16p, whereas 10-15% have a mutation in a gene (PKD2) on chromosome 4q. In a few families, a third gene (PKD3) of unknown location appears to be involved. The purpose of this study was to determine the genotype of Icelandic families with ADPKD. Material and methods: We isolated DNA from 229 family members and generated genotypes for polymorphic markers with conventional methods. Linkage analysis and haplotype analysis were performed in 14 ADPKD families, employing markers from the PKD1 and PKD2 regions. Results: The abnormal gene could be located in 13 families. Eleven families demonstrated linkage to the PKD1 locus and two families to the PKD2 locus. Comparison of the haplotypes of the PKD1 families indicates that nine different mutations cause ADPKD 1 in Iceland, including one de novo mutation. The two ADPKD2 families each have a distinct haplotype. Therefore, at least 11 different mutations cause ADPKD in Iceland. In cooperation with Dutch scien¬tists, one mutation in the PKD2 gene was defined, a 16 bp deletion of a splice site between intron 1 and exon 2. Conclusions: Our results demonstrate marked genetic heterogeneity of ADPKD in the Icelandic population. As expected, most of the families have evidence for mutation in the PKD1 gene. The stage has been set for future work, which will focus on detecting mutations in the PKD genes and defining the correlation between mutations and the phenotype of the disease. Tilgangur: B löðrunýrnasjúkdómur með ríkjandi erfðamáta (arfgeng blöðrunýru, autosomal dominant polycystic kidney disease, ADPKD) er einn algengasti erfðasjúkdómur sem þekkist hjá mönnum og ...