本文關(guān)鍵詞： 抽動(dòng)穢語(yǔ)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(xué)》2017年碩士論文　論文類(lèi)型：學(xué)位論文

【摘要】：目的抽動(dòng)穢語(yǔ)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(yùn)動(dòng)抽動(dòng)和(或)發(fā)聲抽動(dòng)為主要臨床表現(xiàn),發(fā)病機(jī)制尚不完全清楚。在本次研究中,我們將探討中國(guó)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(gè)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(xué)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(duì)照組。采用Taq Man探針實(shí)時(shí)熒光定量PCR技術(shù)(Taq Man Quantitative Real-time PCR,RT-PCR)對(duì)IL-17F基因的兩個(gè)單核苷酸多態(tài)性位點(diǎn)(single nucleotide polymorphism,SNP)(rs1889570和rs763780)進(jìn)行基因檢測(cè),基于家系的傳遞不平衡檢驗(yàn)(transmission disequilibrium test,TDT)和單倍型相對(duì)風(fēng)險(xiǎn)分析(haplotype relative risk,HRR)用來(lái)估計(jì)其遺傳易感性。另外,我們?cè)黾恿瞬±龑?duì)照分析來(lái)檢測(cè)研究對(duì)象SNP位點(diǎn)的遺傳學(xué)分布與TS發(fā)病的關(guān)系。所有的統(tǒng)計(jì)學(xué)方法均以p0.05為具有統(tǒng)計(jì)學(xué)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(diǎn)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(duì)照分析的卡方檢驗(yàn)結(jié)果也表明病例組與對(duì)照組之間無(wú)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(duì)照分析結(jié)果均證實(shí)IL-17F基因這兩個(gè)SNP位點(diǎn)與中國(guó)漢族人群TS發(fā)病之間沒(méi)有明顯的關(guān)聯(lián)。另外,我們注意到rs763780位點(diǎn)的TDT與HRR檢驗(yàn)結(jié)果(p值)較為接近臨界值,因此需要進(jìn)一步加大樣本量以驗(yàn)證。同時(shí)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(jìn)行驗(yàn)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(xué)位授予單位】：青島大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類(lèi)號(hào)】：R749

【參考文獻(xiàn)】

相關(guān)期刊論文 前1條

1 包新華,裴竹英,秦炯,吳希如;陣發(fā)性運(yùn)動(dòng)障礙性疾病的臨床特征與分類(lèi)探討[J];中華兒科雜志;2002年12期

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