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新疆維吾爾族、漢族CD14基因多態(tài)性與變應(yīng)性鼻炎的關(guān)聯(lián)研究

發(fā)布時(shí)間:2018-04-23 16:22

  本文選題:維吾爾族 + 漢族; 參考:《新疆醫(yī)科大學(xué)》2011年碩士論文


【摘要】:目的:研究新疆地區(qū)維吾爾族、漢族CD14基因單核苷酸多態(tài)性的特點(diǎn)及其與變應(yīng)性鼻炎的關(guān)系。方法:首先采用直接測序的方法檢測32例正常維吾爾族人CD14基因全長,確定維吾爾族人群CD14基因SNPs的位置、類型和頻率。再從中選取三個(gè)高頻標(biāo)簽SNP進(jìn)行病例對照的關(guān)聯(lián)研究。對象為新疆維吾爾族變應(yīng)性鼻炎患者150例,漢族變應(yīng)性鼻炎患者150例,作為病例組,健康對照組300例(維、漢各150例)。應(yīng)用SNaPshot SNP分型技術(shù)對600例樣本進(jìn)行SNP位點(diǎn)分型,檢測CD14基因rs2569190(-159T/C)、rs2569192(C/G)、rs3138078(-1359G/T)三個(gè)位點(diǎn)基因型頻率和等位基因頻率。同時(shí)比較不同基因型的血漿IgE水平。結(jié)果:1)正常維吾爾族人群CD14基因全長序列里發(fā)現(xiàn)了11個(gè)SNP位點(diǎn),2個(gè)是新發(fā)現(xiàn)的低頻SNP,這11個(gè)位點(diǎn)彼此都處于高度的連鎖不平衡。其中rs2569192、rs4914、rs2569190、rs2569191在維吾爾族人的分布與北京漢族人、日本人、歐洲人、非洲人明顯不同,差異有統(tǒng)計(jì)學(xué)意義(P0.05);2)新疆維吾爾族、漢族CD14基因rs2569190(-159T/C)、rs2569192(C/G)、rs3138078(-1359G/T)三個(gè)位點(diǎn)基因型分布均以CT、CC、GG型多見,等位基因分布頻率最高分別是T、C、G。維吾爾族和漢族CD14基因三個(gè)多態(tài)性位點(diǎn)分布無差別。都構(gòu)成4種單倍型TCG、CCT、CGG、CCG,且三個(gè)SNP位點(diǎn)間存在強(qiáng)的連鎖不平衡;3)同一民族中,漢族變應(yīng)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(jì)學(xué)意義(P0.05);維吾爾族變應(yīng)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(jì)學(xué)意義(P0.05)。維漢正常對照組之間CD14基因三個(gè)位點(diǎn)基因型和等位基因分布頻率差異無統(tǒng)計(jì)學(xué)意義(P0.05);變應(yīng)性鼻炎組中,維吾爾族與漢族rs2569192(C/G)位點(diǎn)基因型和等位基因分布頻率差異有統(tǒng)計(jì)學(xué)意義(P0.05);其他兩個(gè)位點(diǎn)比較差異無統(tǒng)計(jì)學(xué)意義(P0.05);4)變應(yīng)原皮膚點(diǎn)刺試驗(yàn)中,維漢變應(yīng)性鼻炎組最高陽性率都是艾蒿和藜屬,維漢比較差異無統(tǒng)計(jì)學(xué)意義(P0.05);5)變應(yīng)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(jì)學(xué)意義(P0.05)。CD14不同基因型與IgE水平無關(guān)。結(jié)論:1)新疆維吾爾族人群CD14基因SNPs分布有別于其他地區(qū)人群,在后續(xù)研究中應(yīng)參考維吾爾族人自已的測序數(shù)據(jù);2)新疆維吾爾族、漢族都存在CD14基因rs2569190(-159T/C)、rs2569192(C/G)、rs3138078(-1359G/T)多態(tài)性,,都以CT.CC.GG基因型和T、C、G等位基因?yàn)橹?三個(gè)SNP位點(diǎn)間存在強(qiáng)的連鎖不平衡。維漢沒有發(fā)現(xiàn)差異;3)未發(fā)現(xiàn)CD14基因三個(gè)位點(diǎn)rs2569190(一159T/C).rs2569192(C/G)、rs3138078(-1359G/T)多態(tài)性與新疆維漢變應(yīng)性鼻炎發(fā)病之間的關(guān)聯(lián);4)艾蒿和藜屬是新疆維漢變應(yīng)性鼻炎患者的主要吸入變應(yīng)原;5)新疆維漢變應(yīng)性鼻炎患者血清總IgE明顯高于正常人群。CD14不同基因型與IgE水平無關(guān)。
[Abstract]:Objective: to study the characteristics of single nucleotide polymorphism (SNP) of CD14 gene and its relationship with allergic rhinitis in Uygur and Han nationality in Xinjiang. Methods: the full length of CD14 gene was detected by direct sequencing in 32 normal Uygur subjects. The location, type and frequency of CD14 gene SNPs in Uygur population were determined. Three high-frequency label SNP were selected for case-control study. Participants were 150 cases of allergic rhinitis in Xinjiang Uygur nationality and 150 cases of allergic rhinitis in Han nationality. SNP locus typing was carried out in 600 samples by SNaPshot SNP typing technique. The genotypes and alleles frequencies of CD14 gene rs2569190 ~ 159T / C / rs25691922 ~ (rs3138078-1359G / T) were detected. At the same time, the plasma IgE levels of different genotypes were compared. Results (1) 11 SNP loci were found in the full-length sequence of CD14 gene in normal Uygur population, 2 of which were newly discovered low-frequency SNP loci, and the 11 loci were in high linkage disequilibrium with each other. The distribution of rs2569192rs4914- rs2569190 rs2569191 in Uygur is obviously different from that of Han, Japanese, European and African people in Beijing, and the difference is statistically significant (P 0.05)) in Xinjiang Uygur and Han nationality, the CD14 gene rs2569190-159Tr / Crs2569 ~ (1922) rs3138078- 1359Gr / T were all found in CTCC-GG genotype. The highest frequency of allelic distribution was TGG. There was no difference in the distribution of three polymorphic loci of CD14 gene between Uygur and Han nationality. All of them constitute four haplotypes, and there is a strong linkage disequilibrium between the three SNP loci in the same ethnic group. There was no significant difference in genotype and allele frequency distribution between Han nationality allergic rhinitis group and control group, but there was no significant difference in genotype and allele frequency distribution between Uygur allergic rhinitis group and control group. There was no significant difference in genotype and allele frequency of CD14 gene between Uygur and Han normal controls, while in allergic rhinitis, there was no significant difference in genotype and allele distribution. There was significant difference in genotype and allele distribution frequency between Uygur and Han nationality in rs25691922 C / G locus (P 0.05), but there was no significant difference between the other two loci in the skin prick test of allergen. The highest positive rates in Uygur allergic rhinitis group were Artemisia argyi and Chenopodium, but there was no significant difference between Uygur and Chinese. The total immunoglobulin IgE in allergic rhinitis group was significantly higher than that in normal control group. The difference was statistically significant. There was no correlation between the different genotypes of P0.05 and CD14 and the level of IgE. Conclusion the distribution of CD14 gene SNPs in Xinjiang Uygur population is different from that in other regions. The CD14 gene rs2569190-159T / rs25691922 rs3138078- 1359G / T polymorphism was found in all Han people, and the CT.CC.GG genotype and the TGG allele were dominant. There was a strong linkage disequilibrium among the three SNP loci. CD14 gene rs2569190 (rs2569190 (-159T / C, rs25691922) polymorphism of rs3138078-1359G / T is associated with Xinjiang Uyghan allergic rhinitis. Artemisia Artemisia and Chenopodium are the main inhaled allergens of Uyghan allergic rhinitis in Xinjiang. The serum total IgE of Uygur allergic rhinitis patients was significantly higher than that of normal subjects. The different genotypes of CD14 had no correlation with IgE level.
【學(xué)位授予單位】:新疆醫(yī)科大學(xué)
【學(xué)位級別】:碩士
【學(xué)位授予年份】:2011
【分類號】:R765.21

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