我国大陆汉族人群HLA-Cw位点基因遗传多态性及其蛋白质三维结构模建研究

发布时间：2019-01-11 15:16

【摘要】：人类白细胞抗原(Human leucocyte antigen，HLA)复合体是人类基因组中最复杂和最具多态性的基因遗传系统，，长期以来一直被列为生命科学研究的重点之一。截至2006年4月已发现2429个HLA等位基因，其中HLA-Cw位点为238个等位基因。在经典的HLA-Ⅰ类基因中，HLA-Cw位点一直被认为是最缺乏多态性的位点，其编码的抗原在细胞表面表达量大约仅为HLA-A和B抗原的10％～20％，这个特点以及缺乏某些Cw抗原相应的分型血清而导致HLA-Cw抗原检测困难，各人群大约都有30％～50％的个体检测不到HLA-Cw抗原。目前，尽管对有关HLA-Cw位点的认识有限，然而最近的研究均显示该基因座位具有重要的生物学功能。HLA-Cw分子不仅与器官和骨髓移植的成功与否有关而且还与多种疾病紧密相连。因此，有关HLA-Cw座位及其分子的探索现已成为免疫学及其相关研究领域的关注的焦点和热点问题。所以，系统研究我国大陆汉族人群的HLA-Cw位点的基因遗传多态性及其编码分子在空间结构上的差异大小对移植排斥反应的影响就具有十分重要的生物医学意义。本研究第一部分首次以大样本分析我国大陆汉族人群HLA-Cw位点的基因分布规律，为进一步研究Cw位点的免疫遗传特征提供背景资料。我们实验室自2000年首先在国内开展了PCR-SSP对HLA-Cw位点进行基因分型的研究，完整地保存了数千份造血干细胞移植供受体的血液标本及相关实验资料。本研究所分析的1285例样本是来自我国大陆
[Abstract]:Human leukocyte antigen (Human leucocyte antigen,HLA) complex is the most complex and polymorphic genetic system in the human genome. As of April 2006, 2429 HLA alleles had been identified, of which 238 were HLA-Cw alleles. Among the classical HLA- class I genes, the HLA-Cw locus has been considered to be the least polymorphic site, and the expression of the antigen encoded on the cell surface is only about 10% 20% of that of HLA-A and B antigen. This characteristic and the lack of corresponding serotyping of some Cw antigens make it difficult to detect HLA-Cw antigens. About 30% of the individuals in each population can not detect HLA-Cw antigens. At present, despite limited knowledge of the HLA-Cw locus, However, recent studies have shown that the gene locus has important biological functions. HLA-Cw molecules are not only related to the success of organ and bone marrow transplantation, but also closely related to many diseases. Therefore, the exploration of HLA-Cw loci and its molecules has become the focus and hot issue in immunology and related research fields. Therefore, it is of great biomedical significance to systematically study the genetic polymorphism of HLA-Cw locus and the difference in spatial structure of coding molecules in the Han population of mainland China. In the first part of this study, large samples were used to analyze the distribution of HLA-Cw loci in Chinese Han population for the first time in order to provide background data for further study on the immunogenetic characteristics of Cw loci. The PCR-SSP genotyping of HLA-Cw loci has been first carried out in our laboratory since 2000. Thousands of blood samples of donor recipients of hematopoietic stem cell transplantation (HSCT) and related experimental data have been completely preserved in our laboratory. The 1285 samples analyzed by the Institute are from the mainland of China.
【学位授予单位】：中国人民解放军军事医学科学院
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R392

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