A study of the association of HLA DR, DQ, and complement C4 alleles with systemic lupus erythematosus in Iceland

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldOBJECTIVE: To perform an exploratory analysis of the relative contribution of single MHC genes to the pathogenesis of systemic lupus erythematosus (SLE) in a homogenous white population. METHODS: MHC class II alleles and C4 allotypes were determined in 64 SLE patients and in ethnically matched controls. HLA-DR and DQ typing was performed by polymerase chain reaction amplification with sequence specific primers. C4 allotypes were determined by agarose gel electrophoresis. RESULTS: The frequency of C4A*Q0 was significantly higher in patients than in controls (46.9% v 25.3%, p = 0.002). HLA-DRB1, DQA1, and DQB1 alleles in the whole group of SLE patients were not significantly different from those of controls. On the other hand increase in DRB1*03 was observed in the group of patients with C4A*Q0, as compared with patients with other C4A allotypes (p = 0.047). There was no significant correlation between severe and mild disease, as judged by the SLEDAI, and HLADR, DQ alleles and comparing the patients with C4A*Q0 with those with other C4A allotypes there was no significant difference regarding clinical manifestations. CONCLUSION: The results are consistent with the argument that C4A deficiency contributes independently to susceptibility and the pathogenesis of SLE. C4A*Q0 in SLE patients in Iceland shows weaker linkage disequilibrium with DR3 genes than reported in most other white populations and emphasises the role of ethnicity

Preparation, structural, dielectric and magnetic properties of LaFeO3-PbTiO3 solid solutions

Solid solutions of (1-x)LaFeO3-(x)PbTiO3 (0<x<1) have been prepared by conventional solid-state reaction. These complex perovskites have been studied by means of X-ray (XRPD) and neutron powder (NPD) diffraction, complemented with dielectric, magnetic, heat capacity and M\"ossbauer measurements. Complete solubility in the perovskite series was demonstrated. The NPD and XRPD patterns were successfully refined as orthorhombic (x \leq 0.7) and tetragonal (x \geq 0.8). A composition-driven phase transformation occurs within the interval 0.7<x<0.8. The samples with x<0.5 showed evidence of long-range magnetic ordering with an G-type antiferromagnetic arrangement of the magnetic moments of the Fe3+ cations in the B-site with propagation vector k = (0,0,0). Based on the obtained experimental data, a combined structural and magnetic phase diagram has been constructed. The factors governing the structural, dielectric and magnetic properties of (1-x) LaFeO3 - (x)PbTiO3 solid solutions are discussed, as well as their possible multiferroicity.Comment: 33 pages, 15 figure

Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldWe 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