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Changsha, China

Qian X.,University of Chinese Academy of Sciences | Xie Y.,Changsha Blood Center | Lu G.,Central South University
Journal of Central South University (Medical Sciences) | Year: 2010

Objective: To investigate HLA-A, -B, and-DRB1 gene polymorphism in the Miao ethnic group in Hunan, China. Methods: PCR-sequence specific oligonucleotide probes (SSO) reverse flow chip method was used to type HLA-A, -B, and-DRB1 genes of 154 unrelated healthy Miao ethnic individuals in Hunan. The allele and haplotype frequencies were calculated and compared with other populations in China. Results: A total of 10 HLA-A, 25 HLA-B, and 13 HLA-DRB1 alleles were observed in the population. The higher frequency alleles included A * 11 (38. 96%), A * 02 (27. 27%), A * 24 (18.83%), B * 40(60) (17. 53%), B * 46(13. 96%), B * 15 (75) (11. 69%), DRB1 * 09 (15.26%), DRB1 *12(15.26%), DRB1 * 15(15. 26%), and DRB1 * 04 (12. 66%). The most frequent haplotypes were A11-B60 (9. 60%), A2-B46 (9. 27%), A11-B75 (9. 22%), B75-DR12 (6.31%), A11-DR12 (9. 62%), A11-DR4 (9. 07%), A11-DR15 (6. 69%), A11-B75-DR12 (5.43%), A11-B60-DR4(A. 24%), and A2-B46-DR9 (3.71%). Compared with other populations in China, HLA gene polymorphism of Hunan Miao population was close to that of southern population. Conclusion: HLA loci are highly polymorphic in the Miao population of Hunan, and their distribution has the character of South China population.

Zhou X.-Y.,Beijing Hospital and Beijing Institute of Geriatrics | Zhou X.-Y.,Quality Control Laboratory | Zhu F.-M.,Zhejiang Blood Center | Li J.-P.,Liaoning Blood Center | And 44 more authors.
PLoS ONE | Year: 2015

Allogeneic hematopoietic stem cell transplantation is a widely used and effective therapy for hematopoietic malignant diseases and numerous other disorders. High-resolution human leukocyte antigen (HLA) haplotype frequency distributions not only facilitate individual donor searches but also determine the probability with which a particular patient can find HLA-matched donors in a registry. The frequencies of the HLA-A, -B, -C, -DRB1, and -DQB1 alleles and haplotypes were estimated among 169, 995 Chinese volunteers using the sequencing-based typing (SBT) method. Totals of 191 HLA-A, 244 HLA-B, 146 HLA-C, 143 HLA-DRB1 and 47 HLA-DQB1 alleles were observed, which accounted for 6.98%, 7.06%, 6.46%, 9.11% and 7.91%, respectively, of the alleles in each locus in the world (IMGT 3.16 Release, Apr. 2014). Among the 100 most common haplotypes from the 169, 995 individuals, nine distinct haplotypes displayed significant regionally specific distributions. Among these, three were predominant in the South China region (i.e., the 20th, 31st, and 81sthaplotypes), another three were predominant in the Southwest China region (i.e., the 68th, 79th, and 95th haplotypes), one was predominant in the South and Southwest China regions (the 18th haplotype), one was relatively common in the Northeast and North China regions (the 94th haplotype), and one was common in the Northeast, North and Northwest China (the 40th haplotype). In conclusion, this is the first to analyze high-resolution HLA diversities across the entire country of China, based on a detailed and complete data set that covered 31 provinces, autonomous regions, and municipalities. Specifically, we also evaluated the HLA matching probabilities within and between geographic regions and analyzed the regional differences in the HLA diversities in China. We believe that the data presented in this study might be useful for unrelated HLA-matched donor searches, donor registry planning, population genetic studies, and anthropogenesis studies. © 2015 Zhou et al.

Yang Y.,Central South University | Tang Q.,Central South University | Zhao M.,Central South University | Liang G.,Central South University | And 8 more authors.
Clinical Immunology | Year: 2015

Systemic lupus erythematosus (SLE) is a complex systemic autoimmune disease involving multiple organs and characterized by overproduction of autoantibodies and T and B cell abnormalities. The treatment for SLE has been restricted to immunosuppressants and corticosteroids. Mycophenolate mofetil (MMF), as a relatively new immunosuppressant, is now widely used in the treatment of SLE patients, particularly those with nephritis. However, it is unclear whether mycophenolic acid (MPA) could modulate the reported disorders of epigenetic status in CD4+T cells from SLE patients. In this study, we demonstrated that MPA can upregulate the histone H3/H4 global acetylation status by regulating HATs and HDACs in lupus CD4+T cells. Furthermore, we found that MPA also affected the histone H4 acetylation and histone H3K4 tri-methylation levels in CD40L promoter region that inhibited the expression of CD40L. These findings indicate the potential epigenetic mechanism of therapeutic effects of MPA in SLE. © 2015 Elsevier Inc.

Tang Q.,Central South University | Yang Y.,Central South University | Zhao M.,Central South University | Liang G.,Central South University | And 8 more authors.
Lupus | Year: 2015

Background: Mycophenolic acid (MPA), the active metabolite of mycophenolate mofetil (MMF), is a noncompetitive inhibitor of inosine monophosphate dehydrogenase, and is now widely used for the treatment of systemic lupus erythematosus (SLE). Dysregulated expression of microRNA has been reported to be associated with the pathogenesis of SLE. However, it is unexplored whether altering microRNA expression in SLE patients is one of the therapeutic effects of MPA. Objectives: This study thus aims to investigate the effect of MPA on microRNAs expression in lupus CD4+T cells and its underlying mechanisms. Results: According to our microarray data, 101 upregulated microRNAs and 77 downregulated microRNAs were identified in MPA-treated lupus CD4+T cells. Among these microRNAs, miR-142-3p/5p and miR-146a expression was found to be significantly increased in MPAtreated lupus CD4+T cells compared to untreated controls. Furthermore, we observed that MPA-treated CD4+T cells from patients with SLE showed enriched levels of H4 acetylation in the putative miRNA-142 regulatory region and enhanced levels of H3 acetylation in the putative miRNA-146a regulatory region compared to untreated cells. Conclusion: Data from this study suggest that MPA activates miR-142 and miR-146a expression through histone modification at the promoter region, which may partially explain the pharmacological mechanisms of MPA for SLE. © The Author(s), 2015.

Zhang Y.,Central South University | Zhang Y.,Changsha Blood Center | Li W.,Central South University | Du J.,Central South University | And 3 more authors.
Chinese Journal of Medical Genetics | Year: 2014

Objective: To investigate the clinical and molecular genetics characteristics of a patient with mild androgen insensitivity syndrome (MAIS). Methods: Clinical data of the patient was collected, and DNA was isolated from peripheral blood sample. Eight exons of AR gene were amplified by PCR with specific primers and directly sequenced by Sanger method. The results were compared with standard sequences from GenBank. Online Polyphen-2 software was applied to predict the effect of mutation on the protein function and compare the conservation of the sequence at the mutation site in various species. The exon of the AR gene containing the mutated site was analyzed in 90 unrelated normal males using PCR and restrictive digestion with S/aN I. Results: Sequence analysis has detected a novel missense mutation in codon 176 of exon 1 (Ser176Arg) of the AR gene. Analysis with polyphen-2 software has indicated the codon to be highly conserved across various species, and that the S176A mutation has caused damage to the protein structure and function (prediction score=0.999). The same mutation was not detected in 90 healthy males. Conclusion: The S176A mutation of the AR gene may contribute to the mild androgen insensitivity syndrome.

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