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dc.contributor.authorFossdal, R
dc.contributor.authorBodvarsson, M
dc.contributor.authorAsmundsson, P
dc.contributor.authorRagnarsson, J
dc.contributor.authorPeters, D
dc.contributor.authorBreuning, M H
dc.contributor.authorJensson, O
dc.date.accessioned2011-02-21T11:32:09Z
dc.date.available2011-02-21T11:32:09Z
dc.date.issued1993-07
dc.date.submitted2011-02-21
dc.identifier.citationHum. Genet. 1993, 91(6):609-13en
dc.identifier.issn0340-6717
dc.identifier.pmid8340115
dc.identifier.doi10.1007/BF00205089
dc.identifier.urihttp://hdl.handle.net/2336/122503
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractWe 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.
dc.language.isoenen
dc.publisherSpringer Verlagen
dc.relation.urlhttp://dx.doi.org/10.1007/BF00205089en
dc.subject.meshAdulten
dc.subject.meshChromosomes, Human, Pair 16en
dc.subject.meshChromosomes, Human, Pair 2en
dc.subject.meshGenetic Markersen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshPolycystic Kidney, Autosomal Dominanten
dc.subject.meshPolymerase Chain Reactionen
dc.titleIcelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysisen
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, The Blood Bank, Reykjavík, Iceland.en
dc.identifier.journalHuman geneticsen
html.description.abstractWe 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.


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