山东省汉族人群HLA-A、B、DRB1位点基因多态性研究

发布时间：2018-03-30 03:05

本文选题：HLA-A、B、DRB1基因　切入点：多态性　出处：《山东大学》2005年硕士论文

【摘要】：人类白细胞抗原(Human Leukocyte Antigen,HLA),是位于人类第6号染色体短臂上的一个紧密联锁的基因群,是人类最复杂的显性多态性遗传系统,具有明显的种族、地域差异,与移植密切相关,是人类群体遗传学及免疫遗传学研究的重要内容。与移植配型相关的位点主要包括HLA-A,-B,和-DRB1,包含500多个等位基因。传统HLA分型多采用血清学方法即国际标准的微量淋巴细胞毒方法,所检测的是细胞膜上分子末端氨基酸的差异而非等位基因本身,由于受血清来源、特异性和所需标本等条件的限制,错误率高达25%,以往国内HLA多态性研究也多采用该方法,且由于样本数少(一般为几十人到几百人左右)以及某些分解物不能被检出等原因,对于高度多态性分布的HLA而言,可能存在分型错误、某些型别漏检等误差。本项研究用基于DNA水平的PCR-序列特异性引物(PCR-SSP)技术对中国造血干细胞捐献者资料库山东分库的7418名无关志愿捐献者进行HLA-Ⅰ、Ⅱ类A、B、DRB1位点基因分型,研究该三个位点的基因多态性及地域性分布特点。在山东汉族人群中共检出低分辨HLA-A基因18种,B基因44种,DRB1基因13种,其中包括一些以前国内认为不存在的低频率基因,对以前在国人中分布不清楚的一些基因本次研究也有了明确的结果。研究发现山东汉族人群最常见的基因型分别为A*02、B*13和DRB1*15,其相应基因频率分别为0.2883、0.1431和0.1762:山东汉族人群最常见的A-B单倍型是A*30—B*13,频率0.0896,联锁不平衡参数0.0743,最常见的A-B-DRB1单倍型是A*30-B*13-DRB1*07。与国外、国内资料进行了比较,发现HLA存在明显的种族和地域性差异。
[Abstract]:Human Leukocyte Antigen (Leukocyte) HLA-A, a tightly interlocking gene group on the short arm of human chromosome 6, is one of the most complex dominant polymorphic genetic systems in humans. It has obvious race, geographical differences and is closely related to transplantation.It is an important part of human population genetics and immune genetics.The major alleles associated with transplant matching include HLA-An-Band DRB1, containing more than 500 alleles.In traditional HLA typing, serological methods, the international standard microlymphocytotoxicity method, were used to detect the difference of terminal amino acids on the cell membrane, not the allele itself, because of the source of the serum.The error rate is as high as 25% due to the limitation of specificity and required specimen. In the past, this method was often used in the study of HLA polymorphism in China, and because of the small number of samples (usually tens to hundreds of people) and the inability to detect some solutes.For highly polymorphic HLA, there may be errors in typing and missing detection of some types.In this study, 7418 unrelated donors from Shandong subbank of Chinese hematopoietic stem cell donor database were genotyped by PCR-SSPs based on PCR- sequence specific primers at the level of DNA.To study the genetic polymorphism and regional distribution of the three loci.A total of 18 low-resolution HLA-A genes were identified in Shandong Han population. There were 44 species of DRB1 genes, including some low-frequency genes which were previously thought to be non-existent in China.The results of this study are also clear on genes previously unknown in China.Comparing with foreign and domestic data, it is found that there are obvious racial and regional differences in HLA.
【学位授予单位】：山东大学
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：R392

【相似文献】