Renal transplantation provides the best long-term treatment for chronic renal failure. Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases....Renal transplantation provides the best long-term treatment for chronic renal failure. Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases. Also, the genetics of human phenotype variation could be understood by knowing the functions of these SNPs. It is still a major challenge to identify the functional SNPs in a disease-related gene. This work explored how SNPs mutations in HLA-DRB1 gene could affect renal transplantation rejection. This study was carried out in Ahmed Gasim Hospital, Renal Dialysis Center during the period, from September 2012 to November 2013. Blood samples from five Sudanese patients (different families) with known renal transplantation rejection were collected before hemodialysis, furthermore one blood sample for control. DNA sequences results and detected SNPs were analyzed using bioinformatics tools (BLAST, SIFT, nsSNP Analyzer, PolyPhen, I-mutant, BioEdit, CPH, Chimera, Box shade and Project Hope). In addition, international databases were used for datasets [NCBI, Uniprot]. Results showed that, three SNPs were detected;two of three SNPs were predicted as tolerant or benign (rs1059575, novel) and one was deleterious (rs17885437). This study concluded that the identification of pathological SNPs could be an answer to unknown causes for a lot of organ transplantation rejection cases.展开更多
Objective:The current meta-analysis determined the relevance of HLA-DRB1 gene polymor-phisms in a Chinese population with pulmonary tuberculosis.Methods:The CBM,CNKI,and MEDLINE databases were retrieved by computers.D...Objective:The current meta-analysis determined the relevance of HLA-DRB1 gene polymor-phisms in a Chinese population with pulmonary tuberculosis.Methods:The CBM,CNKI,and MEDLINE databases were retrieved by computers.Domes-tic and international documents involving studies on the relevance of HLA-DRB1 gene polymor-phisms in a Chinese population with pulmonary tuberculosis were collected from the database until May 2013,and statistical analysis was performed on all of the eligible results with RevMan5.0 software.Results:Eleven case-control studies were collected,including 1364 cases in the pulmonary tuberculosis group and 1496 cases in the control group.The consolidated OR values and 95%confidence intervals of the case and control groups of HLA-DRB1*04,HLA-DRB1*15,and HLA-DRB1*16 were 1.32(1.09-1.60),1.40(1.01-1.93),and 1.36(1.01-1.83),respectively.Conclusion:HLA-DRB1*04,HLA-DRB1*15,and HLA-DRB1*16 may be susceptibility genes for pulmonary tuberculosis in a Chinese population.展开更多
文摘Renal transplantation provides the best long-term treatment for chronic renal failure. Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases. Also, the genetics of human phenotype variation could be understood by knowing the functions of these SNPs. It is still a major challenge to identify the functional SNPs in a disease-related gene. This work explored how SNPs mutations in HLA-DRB1 gene could affect renal transplantation rejection. This study was carried out in Ahmed Gasim Hospital, Renal Dialysis Center during the period, from September 2012 to November 2013. Blood samples from five Sudanese patients (different families) with known renal transplantation rejection were collected before hemodialysis, furthermore one blood sample for control. DNA sequences results and detected SNPs were analyzed using bioinformatics tools (BLAST, SIFT, nsSNP Analyzer, PolyPhen, I-mutant, BioEdit, CPH, Chimera, Box shade and Project Hope). In addition, international databases were used for datasets [NCBI, Uniprot]. Results showed that, three SNPs were detected;two of three SNPs were predicted as tolerant or benign (rs1059575, novel) and one was deleterious (rs17885437). This study concluded that the identification of pathological SNPs could be an answer to unknown causes for a lot of organ transplantation rejection cases.
文摘Objective:The current meta-analysis determined the relevance of HLA-DRB1 gene polymor-phisms in a Chinese population with pulmonary tuberculosis.Methods:The CBM,CNKI,and MEDLINE databases were retrieved by computers.Domes-tic and international documents involving studies on the relevance of HLA-DRB1 gene polymor-phisms in a Chinese population with pulmonary tuberculosis were collected from the database until May 2013,and statistical analysis was performed on all of the eligible results with RevMan5.0 software.Results:Eleven case-control studies were collected,including 1364 cases in the pulmonary tuberculosis group and 1496 cases in the control group.The consolidated OR values and 95%confidence intervals of the case and control groups of HLA-DRB1*04,HLA-DRB1*15,and HLA-DRB1*16 were 1.32(1.09-1.60),1.40(1.01-1.93),and 1.36(1.01-1.83),respectively.Conclusion:HLA-DRB1*04,HLA-DRB1*15,and HLA-DRB1*16 may be susceptibility genes for pulmonary tuberculosis in a Chinese population.
