發(fā)布時間：2018-02-13 16:04

  本文關(guān)鍵詞： 抽動穢語綜合征 IL-17F基因 單核苷酸多態(tài)性 連鎖不平衡　出處：《青島大學》2017年碩士論文　論文類型：學位論文

【摘要】：目的抽動穢語綜合征(tourette syndrome,TS)是一種常伴隨多種并發(fā)癥的慢性神經(jīng)系統(tǒng)疾病,發(fā)病較早,以不自主的運動抽動和(或)發(fā)聲抽動為主要臨床表現(xiàn),發(fā)病機制尚不完全清楚。在本次研究中,我們將探討中國漢族人群TS遺傳易感性與IL-17F基因多態(tài)性的關(guān)系。方法本次研究我們收集了407個TS核心家系(包括325位男性TS患者和82位女性TS患者及其他/她們的生物學父母),另外征集417位健康查體者(包括321位男性和96位女性)作為本次研究的對照組。采用Taq Man探針實時熒光定量PCR技術(shù)(Taq Man Quantitative Real-time PCR,RT-PCR)對IL-17F基因的兩個單核苷酸多態(tài)性位點(single nucleotide polymorphism,SNP)(rs1889570和rs763780)進行基因檢測,基于家系的傳遞不平衡檢驗(transmission disequilibrium test,TDT)和單倍型相對風險分析(haplotype relative risk,HRR)用來估計其遺傳易感性。另外,我們增加了病例對照分析來檢測研究對象SNP位點的遺傳學分布與TS發(fā)病的關(guān)系。所有的統(tǒng)計學方法均以p0.05為具有統(tǒng)計學意義的臨界值。結(jié)果基于家系的研究表明IL-17F基因rs1889570和rs763780位點與TS發(fā)病之間不存在明顯的遺傳易感性(rs1889570:pTDT=0.266,pHRR=0.051;rs763780:pTDT=0.092,pHRR=0.083)。病例對照分析的卡方檢驗結(jié)果也表明病例組與對照組之間無顯著差異(rs1889570:p基因型=0.188,p等位基因=0.211;rs763780:p基因型=0.105,p等位基因=0.555)。結(jié)論基于家系的關(guān)聯(lián)分析以及經(jīng)典的病例對照分析結(jié)果均證實IL-17F基因這兩個SNP位點與中國漢族人群TS發(fā)病之間沒有明顯的關(guān)聯(lián)。另外,我們注意到rs763780位點的TDT與HRR檢驗結(jié)果(p值)較為接近臨界值,因此需要進一步加大樣本量以驗證。同時為確定其是否存在種族遺傳易感性的差異,仍需在不同的地域和種族中進行驗證。
[Abstract]:Objective Tourette syndrome (TS) is a kind of chronic nervous system disease with many complications, and its main clinical manifestation is involuntary motor twitching and / or vocal twitching. The pathogenesis is not entirely clear. In this study, We will explore the relationship between TS genetic susceptibility and IL-17F gene polymorphism in Chinese Han population. Methods in this study we collected 407 TS nuclear families (including 325 male TS patients and 82 female TS patients and others). In this study, 417 healthy examiners (321 male and 96 female) were recruited as control group. Taq Man probe real-time fluorescence quantitative PCR technique was used to detect IL-17F gene. Nucleotide polymorphism loci single nucleotide polymorphismSNPM rs1889570 and rs763780) were detected. Transmission disequilibrium test and haplotype relative risk analysis were used to estimate their genetic susceptibility. We increased the case-control analysis to detect the relationship between the genetic distribution of SNP loci and the incidence of TS. All statistical methods used p0. 05 as the threshold of statistical significance. There was no significant genetic susceptibility between the rs1889570 and rs763780 loci of IL-17F gene and TS. Rs1889570: pTDTT 0.266pHRRN 0.051rs763780: 1: pTDT0.092pHRRN 0.083. The results of Chi-square test in case-control analysis also showed that there was no significant difference between the case group and the control group in the allele 0.211rs763780: P (0.105p). Conclusion based on the pedigree association analysis and the classical case-control analysis, there is no significant association between the two SNP loci of IL-17F gene and the incidence of TS in Chinese Han population. We note that the TDT value of the rs763780 locus is closer to the critical value than the HRR test result, so we need to further increase the sample size to verify, and in order to determine whether there is a difference in racial genetic susceptibility, It still needs to be verified in different regions and races.
【學位授予單位】：青島大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R749

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本文編號：1508549