【作者】 寇长贵；

【导师】 于雅琴；

【作者基本信息】 吉林大学 ， 流行病与卫生统计学， 2005， 硕士

【摘要】 精神分裂症(以下简称精分症)是人类最常见的精神性疾患之一。在我国,精分症的终身患病率高达0.7%左右。精分症不仅给家庭和社会带来沉重的经济负担,而且还严重威胁社会的安全与稳定。确定精分症的病因从而防治精分症是医学界乃至整个社会迫切需要解决的问题。遗传流行病学研究证实,精分症与遗传因素有密切关系,但不符合经典的孟德尔单基因遗传规律,属于多基因遗传病或人类复杂疾病。人类基因组系统扫描发现,除19 号,21 号和Y 染色体以外,其余的染色体上都可能含有精分症易感基因。但是,能获得较好重复性的染色体区域至少有6个,包括1q21-22、5q22-23、6p24-21、8p22-21、13q14-33和22q11-12。本研究工作以中国汉族精分症患者和他们的健康父母双亲组成的核心家系为研究对象,研究22q11.2 染色体区域上的儿茶酚氧位甲基转移酶(COMT)基因上的3 个SNPs 位点,用聚合酶链式反应–限制性片段长度多态性(PCR–RFLP)方法检测个体基因型,用SPSS 统计学软件及EXCEL软件管理基因分型数据,应用基于家系的连锁不平衡分析方法(TDT 及HRR)和多功能遗传统计学软件(SPSS、UNPHASED 和Transmit)分析数据,确定COMT 基因与精分症的关系。结果显示,各位点与精神分裂症无关联,但发现与精神分裂症的某些阳性症状即不同临床表型高度相关,提示COMT 基因与精神分裂症的临床表型的发生密切相关。更多还原

【Abstract】 Schizophrenia is a common mental disorder with a life-time prevalence of 1% in the general population worldwide, the life-time prevalence is 0.7% in China. The large suffering population has brought heavy economic burden to the society and families, threatening the safety and stability of society. Therefore, it urgently important for the medical field and the whole society to determine the ecological factors of schizophrenia so as to preventive and cure it. Epidemiological study has indicated that the mechanism of schizophrenia is mainly related to genetic components. Although genetic component may play a role in schizophrenia, it is not a simple Mendelian disease but it looks like a complex disease with a polygenic mechanism. Genome-wide scanning shows that all the chromosomes except for chromosome 19, 21 and Y, may contain a schizophrenia susceptibility gene, while there are only 6 chromosome regions whose positive regions could have a better reproducibility. They are1q21-22、5q22-23、6p24-21、8p22-21、13q14-33 and 22q11-12. This study was designed to search for a susceptibility gene for schizophrenia by screening three SNPs on catechol-o-methyltransferase (COMT)gene, a candidate gene of schizophrenia in 22q11.2 gene. This study used a family-based LD analysis in which the family trios, consisting of father, mother and affected offspring were recruited. They were all Chinese Han decent in North China. Polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP)were adopted to examine individual genotype. Statistical software SPSS and EXCEL were used to handle the data on genotype. Goodness of fit χ2 test was used to detect whether SNPs distribution in the sample population is in Hardy-Weinberg equilibrium Multifunctional genetic statistical software were used to detect whether the tested SNPs locus was associated with schizophrenia by two family-based LD analysis, the haplotype relative risk更多还原