Association study on single nucleotide polymorphisms in HTRA1 gene and rheumatoid arthritis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the association between the single nucleotide polymorphisms (SNPs) in the high-temperature requirement A-1 (HTRA1) gene and rheumatoid arthritis (RA) in Chinese Han population.</p><p><b>METHODS</b>Five SNPs in the HTRA1 gene (rs2014307, rs2248799, rs2300433, rs714816 and rs2268356) were genotyped by ABI Snapshot method in Han Chinese cohort composed of 344 patients with RA and 288 healthy controls. The serum rheumatoid factor (RF) and C-reactive protein (CRP) of the patients were determined by endpoint nephelometry method.</p><p><b>RESULTS</b>Genotypes of all the five SNPs in the HTRA1 gene were not significantly different between the RA patients and controls (P> 0.05). Haplotypes generated by these five SNPs did not show significantly difference between the two groups either (P> 0.05). Serum RF levels in the RA patients had no significant difference among the genotypes for four SNPs (rs2014307, rs2248799, rs714816, and rs2268356) in the HTRA1 gene, while RF levels in the RA patients with genotypes AA+AG of the rs2300433 locus were significantly higher than that in genotype GG carriers (P< 0.05). Serum CRP levels in the RA patients had no significant difference among the genotypes for all the five SNPs.</p><p><b>CONCLUSION</b>Author's results suggested that although the five SNPs in the HTRA1 gene were not associated with RA in Chinese Han population, RF levels in the RA patients with genotypes AA and AG in the rs2300433 locus were significantly higher than the GG carriers. The HTRA1 role in RF regulation needs to be further investigated.</p>

Linkage analysis of one family with autosomal dominant high myopia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To map the high myopia gene in a Chinese family with autosomal dominant high myopia.</p><p><b>METHODS</b>A family with autosomal dominant high myopia in three generations was collected. Eighteen short-tandem-repeat markers on previously reported loci linked to high myopia were chosen for genotyping and two-point linkage analysis was carried out.</p><p><b>RESULTS</b>The spherical equivalent of affected individuals ranges from -6.00D to -20.00D and the genetic pattern is autosomal dominant. The LOD score was less than -1 in all 18 microsatellite markers, indicating that there was no linkage between these markers and the high myopia related genes in this family.</p><p><b>CONCLUSION</b>A novel myopia locus for high-grade myopia may exist in the kindred. Genome-wide scan will be needed to determine this novel locus.</p>

Preparation and characterization of a monoclonal antibody against human SOCS3 / 南方医科大学学报

<p><b>OBJECTIVE</b>To prepare and characterize the monoclonal antibody (mAb) against human SOCS3.</p><p><b>METHODS</b>BALB/c mice were immunized with recombinant GST-SOCS3 protein, from which the spleen cells were isolated and fused with Sp2/0 cells. After several rounds of screening and cloning, the hybridoma cell strain secreting anti-SOCS3 mAb was obtained, whose specificity was evaluated using ELISA and Western blotting, and the titer, immunoglobulin subtype and affinity of the mAb were also measured.</p><p><b>RESULTS</b>The hybridoma cell strain secreting anti-SOCS3 mAb was identified to belong to IgG2a subtype. The mAb titers in cultural supernatant and acetic fluid were 1:640 and 1:25600, respectively, as determined by ELISA with affinity reaching 4.84x10(6) L/mol.</p><p><b>CONCLUSION</b>The success in anti-SOCS3 mAb preparation provides the basis for further study of the negative regulation of cytokine signal transduction and the immunoregulation in microorganism infections.</p>