本文選題：變應性鼻炎 + 抗原處理相關(guān)轉(zhuǎn)運蛋白1　； 參考：《新疆醫(yī)科大學》2012年碩士論文

【摘要】：目的：研究新疆地區(qū)維吾爾族、漢族TAP1基因單核苷酸多態(tài)性的特點及其與變應性鼻炎的關(guān)系。方法：采用病例-對照研究方法，研究對象：病例組為300例（新疆維吾爾族變應性鼻炎患者150例，漢族變應性鼻炎患者150例），健康對照組為300例（門診體檢及耳鼻喉門診健康對照維吾爾族150例，漢族150例），應用SNaPshot SNP分型技術(shù)對600例樣本進行SNP位點分型，檢測TAP1基因rs1057141（-1332A/G）、rs1135216（-2245A/G）、rs2071480(G/T)三個位點基因型頻率和等位基因頻率，進行Hardy-Weinberg平衡定律檢驗和單倍體及連鎖不平衡分析。結(jié)果：（1）新疆維吾爾族、漢族TAP1基因rs1057141（-1332A/G）、rs1135216（-2245A/G）、rs2071480(G/T)三個位點基因型分布分別以A/A、A/A、G/G型多見，等位基因分布頻率最高分別是A、A、G。維吾爾族和漢族rs1057141、rs1135216、rs2071480基因多態(tài)性位點分布有差別。都構(gòu)成5種單倍型AAG、GGG、AAT、GGT、AGT，且三個單核苷酸多肽性位點間存在強的連鎖不平衡；（2）同一民族中：漢族變應性鼻炎組與對照組間基因型和等位基因頻率分布差異無統(tǒng)計學意義（P＞0.05）；維吾爾族變應性鼻炎組與對照組間rs1057141位點等位基因G頻率分布差異有統(tǒng)計學意義（P＜0.05）。兩民族中：維吾爾族與漢族健康對照組之間TAP1基因三個單核苷酸多態(tài)性位點基因型和等位基因分布頻率差異有統(tǒng)計學意義（P＜0.05），維吾爾族與漢族變應性鼻炎病例組中， TAP1三個單核苷酸多肽性位點基因型和等位基因分布頻率差異有統(tǒng)計學意義（P＜0.05）；（3）變應原皮膚點刺試驗中，兩民族變應性鼻炎組過敏原最高陽性率都是艾蒿和藜屬，兩民族間比較差異無統(tǒng)計學意義（P＞0.05）；（4）變應性鼻炎組與正常對照組比較血清總免疫球蛋白IgE明顯偏高，差異有統(tǒng)計學意義（P＜0.05）。結(jié)論：（1）新疆維吾爾族人群TAP1基因單核苷酸多態(tài)性位點分布有別于其他地區(qū)人群，在后續(xù)研究中應參考維吾爾族人自己的測序數(shù)據(jù)；（2）新疆維吾爾族、漢族都存在TAP1基因rs1057141（-1332A/G）、rs1135216（-2245A/G）、rs2071480(G/T)多態(tài)性，，都以A/A、A/A、G/G基因型和A、A、G等位基因為主，三個單核苷酸多態(tài)性位點間存在強的連鎖不平衡。兩民族間TAP1三個單核苷酸多態(tài)性位點基因型及等位基因分布不同；（3）發(fā)現(xiàn)rs1057141（-1332A/G）位點G等位基因多態(tài)性與新疆維吾爾族變應性鼻炎發(fā)病相關(guān)聯(lián)；（4）艾蒿和藜屬是新疆維吾爾族、漢族變應性鼻炎患者的主要吸入變應原；（5）新疆維吾爾族、漢族變應性鼻炎患者血清總IgE明顯高于正常人群。
[Abstract]:Objective: to study the characteristics of single nucleotide polymorphism (SNP) of TAP1 gene and its relationship with allergic rhinitis in Uygur and Han nationality in Xinjiang. Methods: a case-control study was carried out on 300 patients with allergic rhinitis in Xinjiang Uygur nationality. There were 150 cases of allergic rhinitis in Han nationality and 300 cases in healthy control group (150 Uygur and 150 Han nationality). SNP locus typing was performed on 600 samples by SNaPshot SNP typing technique. The genotypes and alleles frequencies of three loci of TAP1 gene rs1057141- 1332A / G ~ + rs11352216- 2245A / G / T were detected, and the Hardy-Weinberg equilibrium law and haploid and linkage disequilibrium analysis were performed. Results (1) in Xinjiang Uygur and Han nationality, the genotype distribution of TAP1 gene rs1057141- 1332A / rs1135216- 2245A / rs2071480G / T) was more common than that of Ar / AG / G / G, and the highest frequency of allele distribution was AHG. The distribution of rs1057141rs1135216rs2071480 polymorphism loci in Uygur and Han nationalities was different. All of them are composed of 5 haplotypes, AAGGG, AAT, GGG, AGTG, and there is a strong linkage disequilibrium between the three single nucleotide polypeptide loci.) there is no significant difference in genotype and allele frequency distribution between Han nationality allergic rhinitis group and control group. The allele G frequency of rs1057141 locus was significantly different between Uygur allergic rhinitis group and control group (P < 0.05). The genotypes and alleles of the three single nucleotide polymorphism loci of TAP1 gene in Uygur and Han healthy controls were significantly different (P < 0.05), and in the cases of allergic rhinitis of Uygur and Han nationality, there were significant differences in the distribution of genotypes and alleles between the two nationalities (P < 0.05). , the genotypes and alleles of three single nucleotide polypeptide loci in TAP1 were significantly different (P < 0.05). The highest positive rates of allergens in allergic rhinitis group were both Artemisia argyi and Chenopodium. There was no significant difference between the two groups (P > 0.05). The serum total immunoglobulin IgE in allergic rhinitis group was significantly higher than that in normal control group (P < 0.05). Conclusion the distribution of single nucleotide polymorphism (SNP) of TAP1 gene in Xinjiang Uygur population is different from that in other regions. In the follow-up study, we should refer to Uygur people's own sequencing data.) in Xinjiang Uygur nationality and Han nationality, there is a polymorphism of TAP1 gene rs1057141- 1332A / rs1135216-2245A / rs2071480G / T) in Xinjiang Uygur nationality and Han nationality. The alleles of A / G genotype and A / A G / G allele were dominant, and there was a strong linkage disequilibrium among the three single nucleotide polymorphism loci (SNP). The genotype and allele distribution of three single nucleotide polymorphisms (SNP) loci of TAP1 were different between the two peoples.) it was found that the G allele polymorphism at rs1057141- 1332A / G) locus was associated with allergic rhinitis in Xinjiang Uygur nationality.) Artemisia artemisia and Chenopodium were Xinjiang Uygur nationality. The main inhaled allergens in patients with allergic rhinitis were Xinjiang Uygur nationality and Han nationality patients with allergic rhinitis. The total serum IgE of patients with allergic rhinitis was significantly higher than that of normal subjects.
【學位授予單位】：新疆醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R765.21

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