【作者】 洪忻；

【导师】 徐耀初； 喻荣彬；

【作者基本信息】 南京医科大学 ， 流行病与卫生统计学， 2006， 硕士

【摘要】 由丙型肝炎病毒(HCV)感染所引起的丙型肝炎呈全球分布。据WHO估计，目前全世界约有1.8亿HCV感染者，且呈增长趋势。HCV感染的显著特点是极易慢性化，约有15％～25％的HCV感染者可被宿主的的免疫反应自限清除体内的病毒；而绝大多数患者呈慢性持续感染，并最终进展为肝硬化和肝细胞癌。HCV被机体清除的机制目前尚不明了，涉及到HCV的生物学特点、宿主免疫、遗传背景和环境因素之间的作用，相互关系十分复杂。本课题以江苏省宜兴市为研究现场，开展了以人群为基础的分子流行病学研究。 第一部分：应用PCR-SBT方法研究江苏汉族 人群HLA-DQA1和DQB1基因多态性分布 人类白细胞抗原(HLA)是迄今所知最复杂的免疫遗传多态性系统，在器官移植，亲子鉴定，抗原的加工、递呈，免疫应答调控等方面发挥重要作用。不同种族、群体、地域HLA等位基因的分布存在差异，国内外已报道在不同人群中其分布的差异与某些疾病的遗传易感性或抵抗性密切相关。本研究采用聚合酶链反应-测序分型法(PCR-SBT)对DQA1和DQB1基因多态性进行探讨。主要结果如下： 1．HLA-DQA1、DQB1基因座Hardy-Weinberg平衡检验HLA-DQA1、DQB1基因座杂合基因型期望值和观察值的吻合度检验，P值分别为0.668和0.071，符合Hardy-Weinberg遗传平衡定律，表明该人群两个基因座中的基因型频率基本处于平衡状态，具有群体代表性。更多还原

【Abstract】 Hepatitis C virus is a serious and growing threat to human public health and is estimated to infect over 180 million people worldwide. One of the striking features of HCV infection is the very high rate of chronicity, approximately 15%~25% of infected patients successfully eliminate the virus, whereas the great majority of patients develop chronic infection. The variable outcome of HCV infection is influenced by the interaction between the virus and the host immune response, although the mechanisms that determine the clearance or the persistence of HCV are still poorly understood. So, it is urgent to explore the pathogenesis of HCV and take effective prevention measures. To reach this target, a population-based molecular epidemiological study on HCV infection was conducted in the area of Yixing county of Jiangsu Province.Part I Study on the genetic polymorphism of HLA-DQA1 and HLA-DQBl by PCR-SBT typing in Jiangsu Chinese Han populationThe HLA genes, located on the short arm of human chromosome 6, encode peptides involved in host immune response. Moreover, the HLA loci display an unprecedented degree of diversity and the distribution of HLA alleles and haplotypes among different populations is considerably variable. The expression of particular HLA alleles could be associated with susceptibility or resistance to some diseases. In the present study, the genetic polymorphism of HLA-DQA1 and DQB1 in Jiangsu Chinese Han population was analyzed by PCR-SBT.1. The Hardy-Weinberg equilibrium of HLA-DQA1 and DQB1 loci更多还原