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Characterization of...
Characterization of a susceptibility locus for SLE, SLEB5, on chromosome 4p14-13
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- Johansson, C. M. (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Kristjánsdóttir, Helga (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Gröndal, G. (author)
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Steinsson, K. (author)
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- Alarcón-Riquelme, Marta E. (author)
- Uppsala universitet,Institutionen för genetik och patologi
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(creator_code:org_t)
- Wiley, 2006
- 2006
- English.
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In: Scandinavian Journal of Immunology. - : Wiley. - 0300-9475 .- 1365-3083. ; 64:3, s. 308-313
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https://doi.org/10.1...
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Abstract
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- Systemic lupus erythematosus is a systemic autoimmune disorder of unknown aetiology but is most likely caused by an interaction between several genetic factors and the environment. In a previously published genome scan we presented linkage to a marker on chromosome 4p13 in Icelandic families. Fine mapping of the region has been performed using 10 multicase families from Iceland and the maximum two-point LOD score was given by marker D4S2974 (Z = 3.57, alpha = 1). Multipoint analyses of the markers in the region suggest a putative disease gene to be located between markers D4S405 and D4S2381. The maximum multipoint LOD score (Z = 3.76) was given for marker D4S2974 in combination with the novel repeat GT4C2. A family-specific haplotype was segregating with the disease in each of eight families although a founder haplotype could not be identified. Analysis of recombination events in the patients delimited the susceptibility locus to approximately 3 cM. The susceptibility locus identified probably contains a mutation that has been enriched in the Icelandic population but is less common in other populations. We also show that this region is not identical to a susceptibility locus for SLE located on 4p16 where we detect no linkage.
Keyword
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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