本文選題：抽動(dòng)穢語(yǔ)綜合征　切入點(diǎn)：傳遞不平衡檢驗(yàn)　出處：《青島大學(xué)》2012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)為一種具有明顯遺傳易感性的精神性疾病。本研究的主要目的是評(píng)價(jià)炎癥因子IL-8, IL-10, IL-12B,TNF-a基因在TS發(fā)病中的作用。 方法：我們利用聚合酶鏈?zhǔn)椒磻?yīng)-限制性片段長(zhǎng)度多態(tài)性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)方法對(duì)128個(gè)中國(guó)漢族TS患者核心家系共計(jì)384例樣本的IL-8-251A/T, IL-10-592A/C,IL-12B 1188A/C和TNF-a -238A/G五個(gè)SNP位點(diǎn)進(jìn)行基因分型。統(tǒng)計(jì)基因型頻率和等位基因頻率,進(jìn)行傳遞不平衡檢驗(yàn)(transmission disequilibrium test, TDT)和單體型相對(duì)風(fēng)險(xiǎn)(haplotype relative risk, HRR)分析。 結(jié)果：TDT分析顯示所有SNP位點(diǎn)在患者中都不存在傳遞不平衡,并且HRR研究結(jié)果也沒(méi)有發(fā)現(xiàn)明顯具有TS易感性的等位基因或基因型(IL-8-251A/T:TDT X2=0.25, P=0.61; HHRR=1.09,95%CI:0.76～1.57; GHRR=1.96,95%CI:0.91～4.26。IL-10-592A/C:TDT X2=0.44, P=0.51; HHRR=0.89,95%CI:0.63～1.27; GHRR=0.90,95%CI:0.54～1.50。IL-12B 1188A/C:TDT X2=0.81, P=0.37; HHRR=0.85,95%CI:0.59-1.21; GHRR=1.40,95%CI:0.68-2.86, TNF-a-238A/G: TDT X2=0.42, P=0.52; HHRR=0.88,95%CI:0.60-1.28; GHRR=0.58,95%CI: 0.21-1.63)。 結(jié)論：在中國(guó)漢族人群中,TS與IL-8, IL-10, IL-12B,TNF-a基因不存在關(guān)聯(lián)。
[Abstract]:Objective: Tourette syndrome (TSS) is a kind of mental disease with obvious genetic susceptibility. The aim of this study was to evaluate the role of inflammatory cytokines IL-8, IL-10, IL-12BnTNF-a in the pathogenesis of TS. Methods: we used polymerase chain reaction-restriction fragment length polymorphism RFLPmethod to analyze the five SNP loci of IL-8-251A / T, IL-10-592A / CIL-12B1188A / C and TNF-a -238Ar / G in 128 Chinese Han nationality patients with TS. Typing-statistical genotype frequency and allelic frequency, Transmission disequilibrium tests (TDTs) and haplotype relative riskanalysis were performed. Results: TDT analysis showed that there was no transmission imbalance at all SNP loci in patients, and no significant TS susceptibility allele or genotype was found in the HRR study. IL-8-251A: TDT X20.25, P0.61; HHRRV 1.0995 CI: 0.761.57; GHRR1.995 CI0.995 CI 0.91-4.26IL-10-59A / C TDT X20.4444; HHRR0.8995CI0.631.27; GHRR 0.541.50.12B 1188A21-C TDT = 20.811, P0.37; HHRR51.959-21HR-95HR-95R952CTDT; HHRR0.899595 CI0.6361.27; GHRRn0.541.50.12B1188A21-C TDT = 20.811a; HHRR51.951.951GHR-95R952.852.8082.8082.882.82.82.82.82.82.82.86; HHRR995; HHRR = 0.688-0.85A; HHRR = 0.6882.85A; HHRR = 0.25A / TDT = 0.25A / TDT = 0.251A / TDT = 0.251A / TDT = 0.25A: P = = =. Conclusion: there is no association between TS and IL-8, IL-10, IL-12 Bnf-a gene in Chinese Han population.
【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】：2012
【分類(lèi)號(hào)】：R749.94

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