Cytogenetic analysis of 477 psoriatics revealed an increased frequency of aberrations involving chromosome region 11q

Enerbäck, Charlotta, 1965 (author): Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi,Institute of Selected Clinical Sciences, Department of Dermatology and Venereology

Holmqvist, D. (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Inerot, Annica, 1949 (author): Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi,Institute of Selected Clinical Sciences, Department of Dermatology and Venereology

Enlund, Fredrik, 1968 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Samuelsson, Lena, 1962 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Torinsson Naluai, Åsa, 1968 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa,Institute for the Health of Women and Children

Wahlström, Jan, 1939 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

Swanbeck, Gunnar, 1934 (author): Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi,Institute of Selected Clinical Sciences, Department of Dermatology and Venereology

Martinsson, Tommy, 1956 (author): Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics

(creator_code:org_t)

Abstract Subject headings

Psoriasis is an inflammatory skin disorder affecting approximately 3% of the population. Genetic studies published so far have shown a complex genetic inheritance with heterogeneity and a putative major susceptibility locus in the HLA region on chromosome 6. We have collected a large amount of material consisting mostly of small nuclear families in order to perform a genome-wide scan for psoriasis-associated genes. In order to focus the scan properly on possible candidate regions, we performed a cytogenetic analysis of 477 unrelated psoriatics. We divided our findings into sporadic, affecting a minor fraction of the cells, and constitutional, i.e. they were present in all cells examined. We found three cases of balanced translocation, all of which involved chromosome 11q. Two of these had a breakpoint in q12-13, whilst one involved the telomeric part of chromosome 11q. In order to characterise further the breakpoint on 11q12-13, we used bacterial artificial chromosomes (BACs) analysed by fluorescent in situ hybridisation (FISH). We were able to show that the persons had a close, but not identical breakpoints; they were separated by at least 5 cM. The major atopy locus is located in this region, as well as a locus for insulin-dependent diabetes mellitus, both being conditions with a pathogenetic mechanism involving antigen presentation.

By the author/editor: Enerbäck, Charlo ...; Holmqvist, D.; Inerot, Annica, ...; Enlund, Fredrik, ...; Samuelsson, Lena ...; Torinsson Naluai ...; show more...; Wahlström, Jan, ...; Swanbeck, Gunnar ...; Martinsson, Tomm ...; show less...

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