ABSTRACT
Objective:To detect mutations in a pedigree containing two brothers with oculocutaneous albinism (OCA) by whole-exome sequencing and Sanger sequencing.Methods:Clinical data were collected from a pedigree with OCA, and DNA was extracted from peripheral blood samples obtained from the proband and other family members. The whole-exome coding region of the proband was directly sequenced by whole-exome sequencing technology to identify potential pathogenic mutations, and Sanger sequencing was conducted to verify the gene mutations.Results:Both the proband and his younger brother presented with generalized white skin, golden-yellow hair, bilateral nystagmus, photophobia, translucent iris, conjunctival congestion, and refractive errors of both eyes. The proband′s parents, grandparents, maternal grandparents, and children were all phenotypically normal, and his parents′ marriage was non-consanguineous. Three heterozygous mutations were identified in the OCA2 gene of both the proband and his younger brother, including a nonsense mutation c.1290T>A, and 2 missense mutations c.1363A>G and c.1204T>C. The mutation c.1204T>C has not been previously reported, and was a novel gene mutation in the OCA2 gene. In addition, 1 heterozygous mutation c.1204T>C was identified in the OCA2 gene in the proband′s father and daughter, 2 heterozygous mutations c.1290T>A and c.1363A>G were found in the OCA2 gene in the proband′s mother, and 1 heterozygous mutation c.1290T>A was identified in the OCA2 gene in the proband′s son and the daughter of the proband′s younger brother.Conclusions:Three gene mutations were identified in the OCA2 gene in the 2 patients with OCA, and the nonsense mutation c.1290T>A may be the pathogenic mutation causing the clinical phenotype of this family. These findings expand the pathogenic mutational spectrum of the OCA gene.
ABSTRACT
Anti-S antibody is rare and irregular antibody in MNS blood group system. One patient was found positive when doing antibody screening experiment before coronary artery bypass grafting. This is the first case of serum IgG-anti-S in our laboratory. S-antibody screening test and irregular antibody identification are important before blood transfusion, which can reduce the transfusion reaction.
ABSTRACT
BACKGROUND:Previous studies on immunosuppression and anti-rejection after organ transplantation mainly focused on effects of T lymphocytes-mediated immune response and immunosuppressive agents on T lymphocytes. Effects of dendritic cel s were unclear. The manifestation and mechanism of immunosuppressive agent effects on dendritic cel s are not identical. OBJECTIVE:To compare the effects of different immunosuppressive agents on expression and function of costimulatory molecules of dendritic cel s, and to explore the mechanism of action of immunosuppressive agents. METHODS:20μg/L rapamycin, 0.04 mg/L mycophenolate, 10μg/L tacrolimus and 1 mg/L cyclosporine A were separately added during bone marrow cel s of C57BL/6 mice were differentiated into dendritic cel s. RESULTS AND CONCLUSION:Flow cytometry results revealed that CD40 expression in each group:rapamycin0.05). One-way mixed lymphocyte reaction results displayed dendritic cel costimulatory T cel proliferation in each group:rapamycin