發(fā)布時間：2018-07-05 01:30

  本文選題：兒童 + 哮喘　； 參考：《中南大學》2012年碩士論文

【摘要】：目的：研究中國湖南省漢族兒童ORMDL3基因的單核苷酸多態(tài)性(single nuclcotidc polymorphism, SNP)的分布情況,并分析其與特應性體質(zhì)及哮喘易感性之間的關(guān)系；探討ORMDL3基因的SNP與血清骨橋蛋白(osteopontin, OPN)(?)口轉(zhuǎn)化生長因子p1(媲nsforming growth factor-β1, TGF-β1)含量變化的相關(guān)性。 方法：收集2010年12月至2011年10月在湖南省兒童醫(yī)院住院的0-5歲哮喘患兒98例設立為哮喘組,并根據(jù)3代直系親屬有無過敏性疾病將哮喘組分為伴特應質(zhì)和無特應質(zhì)兩組,同時收集非哮喘兒童30名作為對照組,采用DNA直接測序法對兩組兒童ORMDL3基因rs7216389位點的SNP進行測定；采用酶聯(lián)免疫吸附法(enzyme-linked imunosorbent assay, ELISA)測定哮喘組及對照組兒童血清中OPN和TGF-β1的含量；用相關(guān)分析對ORMDL3基因多態(tài)性與血清中OPN和TGF-β1的含量變化進行相關(guān)分析。 結(jié)果：(1)ORMDL3基因多態(tài)性分析：ORMDL3基因rs7216389位點存在多態(tài)性,基因型有AA、AG和GG三種類型。哮喘組AA、AG和GG三種基因型的頻率分別是68.4%、23.5%、8.1%,A、G等位基因頻率分別為80.1%、19.9%；對照組三種基因型的頻率分別是60.0%26.7%和13.3%,A、G等位基因頻率分別為73.3%、26.7%。兩組基因型及等位基因頻率差異無統(tǒng)計學意義(χ2分別為0.994和1.248,P均0.05)。哮喘伴特應質(zhì)組AA、AG和GG三種基因型的頻率分別是71.0%、22.6%和6.4%,等位基因A、G的頻率分別為82.3%、17.7%；哮喘無特應質(zhì)組AA、AG和GG三種基因型的頻率分別是63.9%、25.0%和11.1%,等位基因A、G的頻率分別為76.4%、23.6%。兩組基因型及等位基因頻率差異無統(tǒng)計學意義(χ2分別為0.829和0.984,P均0.05)。(2)血清中OPN、TGF-β1含量比較：哮喘組和對照組的血清OPN分別為18.68±4.94ng/mL和13.53±3.55ng/mL,哮喘組較對照組明顯增加,差異有統(tǒng)計學意義(t=5.296,P0.05)；哮喘伴特應質(zhì)組及哮喘無特應質(zhì)組的OPN含量分別為18.71±5.53ng/mL和18.63±3.81ng/mL,與對照組比較明顯增加,差異有統(tǒng)計學意義(P0.05)；哮喘伴特應質(zhì)組與哮喘無特應質(zhì)組比較,OPN含量差異無統(tǒng)計學意義(P0.05)；哮喘組與對照組TGF-β1含量分別為69.86±31.76pg/mL和47.06±23.76pg/mL,哮喘組TGF-β1含量與對照組比較顯著增加,差異有統(tǒng)計學意義(t=3.630,P0.05)；哮喘伴特應質(zhì)組與哮喘無特應質(zhì)組TGF-β1含量分別為79.03±32.96pg/mL和54.08±22.29pg/mL,哮喘伴特應質(zhì)組與哮喘無特應質(zhì)組及對照組比較顯著增高,差異有統(tǒng)計學意義(P0.05),哮喘無特應質(zhì)組和對照組比較TGF-β1含量差異無統(tǒng)計學意義(P0.05)；單因素方差分析顯示不同組別的各基因型之間的OPN及TGF-β1含量差異均無統(tǒng)計學意義。(3)相關(guān)分析：血清OPN與TGF-β1含量在哮喘組中呈直線正相關(guān),在哮喘伴特應質(zhì)組和無特應質(zhì)組中也呈直線正相關(guān)。 結(jié)論：(1)我國湖南省漢族兒童ORMDL3基因rs7216389存在SNP,該位點的SNP與我國湖南省漢族兒童的哮喘易感性可能無明顯關(guān)聯(lián)；(2)ORMDL3基因的rs7216389位點可能不是影響我國湖南省漢族哮喘兒童的特應質(zhì)的位點；(3)OPN、TGF-β1可能參與了哮喘的發(fā)生及發(fā)展過程,且兩者呈直線正相關(guān)；(4)OPN、TGF-β1的表達可能不受ORMDL3基因rs72163896位點的SNP的影響。
[Abstract]:Objective: To study the distribution of single nuclcotidc polymorphism (SNP) of the ORMDL3 gene of the Han children in Hunan Province, and to analyze the relationship with the atopic constitution and the susceptibility to asthma, and to explore the SNP of the ORMDL3 gene and the serum osteopontin (osteopontin, OPN) (?) oral transforming growth factor P1 (comparable nsforming). Correlation of growth factor- beta 1, TGF- beta 1 content changes.
Methods: 98 cases of asthma in 0-5 year old asthmatic children hospitalized in Hunan Children's Hospital from December 2010 to October 2011 were set up as asthma group. According to the 3 generation of direct relatives, the asthma group was divided into groups of atopic and non atopic two, and 30 non asthmatic children were collected as control group, and two groups were treated by DNA direct sequencing. The SNP of the rs7216389 locus of the child ORMDL3 gene was measured and the content of OPN and TGF- beta 1 in the serum of the children of asthma and the control group was measured by enzyme-linked imunosorbent assay (ELISA), and the correlation analysis was used to analyze the correlation between the ORMDL3 gene polymorphism and the content of OPN and TGF- beta 1 in the serum.
Results: (1) ORMDL3 gene polymorphism analysis: the polymorphism of the ORMDL3 gene rs7216389 locus, the genotype of AA, AG and GG, the frequencies of the three genotypes of AA, AG and GG in the asthma group were 68.4%, 23.5%, 8.1%, A, and G alleles respectively 80.1% and 19.9% respectively. The frequencies of the three genotypes in the control group were 60.0%26.7% and 13.3%, respectively, respectively. Allele frequencies were 73.3% respectively, and there was no significant difference in genotype and allele frequency between 26.7%. two groups (0.994 and 1.248, P 0.05). The frequencies of AA, AG and GG genotype were 71%, 22.6% and 6.4%, and the allele A, G frequencies were 82.3%, 17.7%, AA, AG and GG in the asthma free group. The frequencies of the three genotypes were 63.9%, 25% and 11.1%, the allele A, the frequency of G were 76.4%, the genotype and allele frequencies of the 23.6%. two groups were not statistically significant (0.829 and 0.984, P 0.05 respectively). (2) the serum OPN and TGF- beta 1 content were compared: the serum OPN of the asthma group and the control group was 18.68 + 4.94ng/mL and 13.53 respectively. 3.55ng/mL, the asthma group was significantly higher than the control group, the difference was statistically significant (t=5.296, P0.05), and the OPN content in the asthma group and the asthma free group was 18.71 + 5.53ng/mL and 18.63 + 3.81ng/mL respectively, and the difference was significantly increased with the control group (P0.05), and the asthma accompanied the atopic group and the asthma without special stress. The difference of OPN content was not statistically significant (P0.05), the content of TGF- beta 1 in the asthma group and the control group was 69.86 + 31.76pg/mL and 47.06 + 23.76pg/mL respectively. The TGF- beta 1 content in the asthma group was significantly increased with the control group, the difference was statistically significant (t=3.630, P0.05), and the TGF- beta 1 content in the asthma combined with the atopic group and the asthma free group was 79., respectively. 03 + 32.96pg/mL and 54.08 + 22.29pg/mL, the asthma combined with atopic group was significantly higher than the non idiopathic asthma group and the control group, the difference was statistically significant (P0.05). There was no significant difference in the content of TGF- beta 1 in the non idiopathic asthma group and the control group (P0.05). The single factor difference analysis showed the OPN and T between the different genotypes of different groups. There was no significant difference in the content of GF- beta 1. (3) correlation analysis: the content of serum OPN and TGF- beta 1 was in linear positive correlation in asthma group, and was also in linear positive correlation in asthma with idiopathic group and non atopic group.
Conclusion: (1) the ORMDL3 gene rs7216389 of Han children in Hunan province exists SNP, and the SNP of this loci may have no obvious association with the susceptibility to asthma in Han children in Hunan province of China. (2) the loci of the ORMDL3 gene may not affect the atopic loci of the asthma children of Hunan Han, and (3) OPN, TGF- beta 1 may be involved in the asthma. There was a positive correlation between the occurrence and development of asthma and the two. (4) the expression of OPN and TGF- beta 1 may not be affected by the SNP of the rs72163896 locus of ORMDL3 gene.
【學位授予單位】：中南大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R725.6

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