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

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MARC

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

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

Article/chapterEnglish1999

Publisher, publication year, extent ...

1999

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LIBRIS-ID:oai:gup.ub.gu.se/188613
https://gup.ub.gu.se/publication/188613URI

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Language:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Annan medicin och hälsovetenskap hsv//swe
MEDICAL AND HEALTH SCIENCES Other Medical and Health Sciences hsv//eng
Adolescent
Chromosome Aberrations
*Chromosomes
Human
Pair 11
Chromosomes
Human
Pair 14
Chromosomes
Human
Pair 7
Female
Human
Male
Psoriasis/*genetics
Support
Non-U.S. Gov't
Translocation (Genetics)

Added entries (persons, corporate bodies, meetings, titles ...)

Holmqvist, D.Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics (author)
Inerot, Annica,1949Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi,Institute of Selected Clinical Sciences, Department of Dermatology and Venereology(Swepub:gu)xinean (author)
Enlund, Fredrik,1968Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xenluf (author)
Samuelsson, Lena,1962Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xsamle (author)
Torinsson Naluai, Åsa,1968Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa,Institute for the Health of Women and Children(Swepub:gu)xnalas (author)
Wahlström, Jan,1939Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xwahja (author)
Swanbeck, Gunnar,1934Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi,Institute of Selected Clinical Sciences, Department of Dermatology and Venereology (author)
Martinsson, Tommy,1956Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xmarto (author)
Göteborgs universitetInstitutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi (creator_code:org_t)

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In:Eur J Hum Genet7:3, s. 339-44

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