本文關(guān)鍵詞： 哮喘 易感性 基因多態(tài)性 黑衣壯兒童　出處：《右江民族醫(yī)學(xué)院》2017年碩士論文　論文類型：學(xué)位論文

【摘要】：目的研究基因IL-4(rs2227284和rs2243274)、IL-4R(rs1805013和rs3024608)、IL-13(rs20541和rs1295685)、IL1R1(rs1558641和rs949963)位點(diǎn)多態(tài)性在黑衣壯兒童人群中的分布頻率;初步探討IL-4(rs2227284和rs2243274)、IL-4R(rs1805013和rs3024608)、IL-13(rs20541和rs1295685)、IL1R1(rs1558641和rs949963)位點(diǎn)多態(tài)性與黑衣壯兒童哮喘易感性的關(guān)系。方法通過聚合酶鏈反應(yīng)-連接酶檢測反應(yīng)(Polymerase Chain Reaction-Ligase Detection Reaction,PCR-LDR)方法對80例哮喘兒童和100例健康兒童的基因IL-4(rs2227284和rs2243274)、IL-4R(rs1805013和rs3024608)、IL-13(rs20541和rs1295685)、IL1R1(rs1558641和rs949963)位點(diǎn)多態(tài)性進(jìn)行基因分型。采用SPSS 17.0統(tǒng)計(jì)軟件進(jìn)行數(shù)據(jù)的統(tǒng)計(jì)分析。通過計(jì)數(shù)法計(jì)算哮喘組和健康對照組檢測的基因型和等位基因頻率,運(yùn)用Hardy-Weinberg遺傳平衡定律檢驗(yàn)群體代表性。兩組的基因型頻率和等位基因頻率采用χ2檢驗(yàn)作比較。計(jì)量資料兩組間比較采用t檢驗(yàn)。通過使用SHEsis在線工具進(jìn)行連鎖及單倍體分析。以上所有統(tǒng)計(jì)分析,P0.05則認(rèn)為差異有統(tǒng)計(jì)學(xué)意義。結(jié)果(1)IL-4基因rs2227284位點(diǎn)在健康組中基因型分布頻率為AA 70.0%、AC26.0%、CC 4.0%,在哮喘組中基因型分布頻率AA 72.5%、AC 23.7%、CC 3.8%;在健康組中等位基因分布頻率為A 83.0%、C 17.0%,在哮喘組中等位基因分布頻率為A 84.4%、C 15.6%。IL-4基因rs2243274位點(diǎn)在健康組中基因型分布頻率為AA 62.0%、AG 31.0%、GG 7.0%,在哮喘組中基因型分布頻率AA 65.0%、AG 30.0%、GG 5.0%;在健康組中等位基因分布頻率為A 77.5%、G 22.5%,在哮喘組中等位基因分布頻率為A 80.0%、G 20.0%。(2)IL-4R基因rs3024608位點(diǎn)在健康組中基因型分布頻率為CC 76.0%、CG 21.0%、GG 3.0%,在哮喘組中基因型分布頻率CC 82.5%、CG 15.0%、GG 2.5%;在健康組中等位基因分布頻率為C 86.5%、G 13.5%,在哮喘組中等位基因分布頻率為C90.0%、G 10.0%。而IL-4R基因rs1805013位點(diǎn)在黑衣壯人群中未發(fā)現(xiàn)多態(tài)性,在兩組研究對象中只檢測到CC基因型。(3)IL-13基因rs20541位點(diǎn)在健康組中基因型分布頻率為CC 36.0%、CT 49.0%、TT 15.0%,在哮喘組中基因型分布頻率CC 38.8%、CT 48.7%、TT 12.5%;在健康組中等位基因分布頻率為C 60.5%、T 39.5%,在哮喘組中等位基因分布頻率為C 63.1%、T 36.9%。IL-13基因rs1295685位點(diǎn)在健康組中基因型分布頻率為CC 35.0%、CT 51.0%、TT 14.0%,在哮喘組中基因型分布頻率CC 37.5%、CT 48.7%、TT 13.8%;在健康組中等位基因分布頻率為C 60.5%、T 39.5%,在哮喘組中等位基因分布頻率為C 61.9%、T 38.1%。(4)IL1R1基因rs1558641位點(diǎn)在健康組中基因型分布頻率為CC 63.0%、CT 34.0%、TT 3.0%,在哮喘組中基因型分布頻率CC 50.0%、CT 38.8%、TT 11.2%;在健康組中等位基因分布頻率為C 80.0%、T 20.0%,在哮喘組中等位基因分布頻率為C 69.4%、T 30.6%。IL1R1基因rs949963位點(diǎn)在健康組中基因型分布頻率為GG 63.0%、AG 34.0%、AA 3.0%,在哮喘組中基因型分布頻率GG 50.0%、AG 38.8%、AA 11.2%;在健康組中等位基因分布頻率為G 80.0%、A 20.0%,在哮喘組中等位基因分布頻率為G 69.4%、A 30.6%。(5)IL-4基因rs2227284和rs2243274位點(diǎn)存在強(qiáng)連鎖不平衡,IL-13基因rs20541和rs1295685位點(diǎn)存在強(qiáng)連鎖不平衡,IL1R1基因rs1558641和rs949963位點(diǎn)存在完全連鎖不平衡。(6)IL-4(rs2227284和rs2243274)、IL-4R(rs3024608)、IL-13(rs20541和rs1295685)位點(diǎn)基因型和等位基因頻率分布在哮喘組和健康組中比較均無差異,P值均大于0.05。IL1R1基因rs1558641和rs949963位點(diǎn)基因型和等位基因頻率在哮喘組和健康組中分布均有統(tǒng)計(jì)學(xué)差異,P值均小于0.05。rs1558641T/rs949963A單倍型在哮喘組中明顯增加與健康組比較,有統(tǒng)計(jì)學(xué)意義,P值小于0.05。結(jié)論在黑衣壯兒童中,IL-4R(rs1805013)位點(diǎn)在黑衣壯兒童中可能不存在多態(tài)性;IL-4(rs2227284和rs2243274),IL-4R(rs3024608),IL-13(rs20541和rs1295685),IL1R1(rs1558641和rs949963)位點(diǎn)存在多態(tài)性,且基因型頻率分布具有民族差異。IL-4(rs2227284和rs2243274),IL-4R(rs3024608),IL-13(rs20541和rs1295685)位點(diǎn)多態(tài)性與黑衣壯兒童哮喘易感性可能無關(guān);rs1558641和rs949963位點(diǎn)多態(tài)性均與哮喘有關(guān)聯(lián),單倍型rs1558641T/rs949963A可能是增加哮喘發(fā)病的風(fēng)險(xiǎn)因素。
[Abstract]:Objective to study the IL-4 gene (rs2227284 and rs2243274), IL-4R (rs1805013 and rs3024608), IL-13 (rs20541 and rs1295685), IL1R1 (rs1558641 and rs949963) the frequency distribution of polymorphism in Heiyi Zhuang population of children; a preliminary study of the IL-4 (rs2227284 and rs2243274), IL-4R (rs1805013 and rs3024608), IL-13 (rs20541 and rs1295685), IL1R1 (rs1558641 and rs949963) the relationship between polymorphism and Heiyizhuang susceptibility of asthma. Methods by polymerase chain reaction ligase detection reaction (Polymerase Chain Reaction-Ligase Detection Reaction, PCR-LDR) gene IL-4 in 80 cases of children with asthma and 100 healthy children (rs2227284 and rs2243274), IL-4R (rs1805013 and rs3024608) (IL-13, rs20541 and rs1295685), IL1R1 (rs1558641 and rs949963) were genotyped polymorphisms. The data were analyzed by SPSS 17 statistical software. By counting The calculation method of the asthma group and healthy control group to detect the genotype and allele frequency, using the Hardy-Weinberg law of genetic equilibrium inspection group representative. Two groups of genotype and allele frequencies of 2 test was used for comparison. Measurement data between two groups were compared by t test. Analyze the linkage and haploid by using SHEsis online tools. All of the above statistics analysis, P0.05 was considered statistically significant. Results (1) IL-4 rs2227284 gene in the healthy group in genotype distribution frequency of AA 70%, AC26.0%, CC 4%, in the asthma group in genotype frequency distribution of AA 72.5%, AC 23.7%, CC 3.8% allele in the healthy group; the frequency distribution of A 83%, C 17% in asthma group and allele frequency distribution of A 84.4%, C 15.6%.IL-4 rs2243274 gene in the healthy group in genotype distribution frequency of AA 62%, AG 31%, GG 7% in asthma The frequency of AA genotype distribution in group 65%, AG 30%, GG 5% in the healthy group; the allele frequency distribution of A 77.5%, G 22.5% in asthma group and allele frequency distribution of A 80%, G 20.0%. (2) IL-4R rs3024608 gene in the healthy group in genotype distribution frequency of CC 76%, CG 21%, GG 3%, in the asthma group in genotype frequency distribution of CC 82.5%, CG 15%, GG 2.5% in the healthy group; the allele frequency distribution of C 86.5%, G 13.5% in asthma group and allele frequency distribution of C90.0%, G 10.0%. and IL-4R rs1805013 gene in black clothes Zhuang groups found no polymorphism in two, a group of subjects only CC genotype was detected. (3) IL-13 rs20541 gene in the healthy group in genotype distribution frequency of CC 36%, CT 49%, TT 15%, in the asthma group in genotype frequency distribution of CC 38.8%, CT 48.7%, TT 12.5%; allele distribution in the healthy group frequency Rate of C 60.5%, T 39.5% in asthma group and allele frequency distribution of C 63.1%, T 36.9%.IL-13 rs1295685 gene in the healthy group in genotype distribution frequency of CC 35%, CT 51%, TT 14%, in the asthma group in genotype frequency distribution of CC 37.5%, CT 48.7%, TT 13.8% in the healthy group of medium; the allele frequency distribution of C 60.5%, T 39.5% in asthma group and allele frequency distribution of C 61.9%, T 38.1%. (4) IL1R1 rs1558641 gene in the healthy group in genotype distribution frequency of CC 63%, CT 34%, TT 3% in asthma group and genotype distribution frequency of CC 50%, CT 38.8% TT, 11.2%; in the healthy group allele frequency distribution of C 80%, T 20% in asthma group and allele frequency distribution of C 69.4%, T 30.6%.IL1R1 rs949963 gene in the healthy group in genotype distribution frequency of GG 63%, AG 34%, AA 3%, in the asthma group in genotype frequency distribution The rate of GG 50%, AG 38.8%, AA 11.2% in the healthy group; the allele frequency distribution of G 80%, A 20% in asthma group and allele frequency distribution of G 69.4%, A 30.6%. (5) has a strong linkage disequilibrium between IL-4 gene rs2227284 and rs2243274 loci, there is a strong linkage disequilibrium between IL-13 gene rs20541 and rs1295685 site, there is a complete linkage disequilibrium of IL1R1 gene rs1558641 and rs949963 loci. (6) IL-4 (rs2227284 and rs2243274), IL-4R (rs3024608), IL-13 (rs20541 and rs1295685) in asthma group and healthy group showed no significant difference in genotype and allele frequency distribution, P values were greater than rs1558641 and 0.05.IL1R1 gene rs949963 genotype and allele frequencies in the asthma group and the healthy group distribution were statistically significant difference, P values were less than 0.05.rs1558641T/rs949963A haplotypes in asthma group increased significantly compared with the healthy group, there was statistically significant Meaning, P value is less than 0.05. in conclusion Heiyizhuang children, IL-4R (rs1805013) loci may not exist polymorphism in Heiyi Zhuang children; IL-4 (rs2227284 and rs2243274), IL-4R (rs3024608), IL-13 (rs20541 and rs1295685), IL1R1 (rs1558641 and rs949963) in locus polymorphism, and genotype frequency with the distribution of ethnic differences.IL-4 (rs2227284 and rs2243274), IL-4R (rs3024608), IL-13 (rs20541 and rs1295685) may be independent of polymorphism and susceptibility to childhood asthma were Heiyizhuang; rs1558641 and rs949963 polymorphism is associated with asthma, haplotype rs1558641T/rs949963A may increase the incidence of asthma risk factors.

【學(xué)位授予單位】：右江民族醫(yī)學(xué)院
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R725.6

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