本文選題：支氣管哮喘　切入點(diǎn)：維吾爾族　出處：《新疆醫(yī)科大學(xué)》2012年碩士論文

【摘要】：目的：分析新疆地區(qū)維吾爾族人群中ADAM33基因T2、V4位點(diǎn)多態(tài)性及其連鎖不平衡關(guān)系，探討T2、V4位點(diǎn)單核甘酸多態(tài)性及其構(gòu)成的單體型與支氣管哮喘易感性之間的關(guān)系。方法：采用病例-對(duì)照研究的方法，就反應(yīng)產(chǎn)物進(jìn)行限制性片段長(zhǎng)度多態(tài)性分析，對(duì)哮喘組125例及對(duì)照健康組125例進(jìn)行ADAM33基因T2、V4多態(tài)性位點(diǎn)分析。結(jié)果：(1)病例組和對(duì)照組年齡、性別比較均無顯著性差異。(2)ADAM33基因T2、V4位點(diǎn)基因型頻率分布符合H W平衡定律。(3)ADAM33基因T2、V4位點(diǎn)基因型分布和等位基因頻率在病例組和對(duì)照組中分布不同。兩組間基因型與等位基因的頻率比較，，差異有統(tǒng)計(jì)學(xué)意義(P=0.011，0.003；0.008，0.000)。以野生型等位基因G和C為參照，突變等位基因A和G可增加哮喘的發(fā)病風(fēng)險(xiǎn)，其OR值分別為2.139和1.912。(4)ADAM33基因T2、V4多態(tài)性位點(diǎn)與哮喘病情嚴(yán)重度均無統(tǒng)計(jì)學(xué)意義(P=0.092，0.146)；但是，V4位點(diǎn)三種基因型間第一秒用力呼氣量(FEV1)實(shí)測(cè)值/預(yù)測(cè)值%水平有差異，GG基因型與CC基因型FEV1、FVC的實(shí)測(cè)值/預(yù)測(cè)值%水平差異有統(tǒng)計(jì)學(xué)意義(P=0.013)。(5)ADAM33基因兩個(gè)SNPs進(jìn)行了配對(duì)連鎖不平衡分析，結(jié)果提示位點(diǎn)間存在弱的連鎖不平衡，構(gòu)建了4種單體型，其中兩種單體型頻率在病例組和對(duì)照組的分布差異有統(tǒng)計(jì)學(xué)意義。在哮喘患者，GG的頻率明顯高于對(duì)照組(P=0.009)，其OR值為1.596；健康對(duì)照組，CG的頻率高于病例組(P=0.000)，OR值為0.442，可明顯減少患哮喘的風(fēng)險(xiǎn)。結(jié)論：(1)ADAM33基因T2、V4多態(tài)性位點(diǎn)與維吾爾族人群哮喘的發(fā)生有顯著的相關(guān)性。T2位點(diǎn)等位基因G可能是哮喘病的保護(hù)基因，等位基因A可能是哮喘病的易感基因；V4位點(diǎn)等位基因C可能是哮喘病的保護(hù)基因，等位基因G可能是哮喘病的易感基因；(2)兩位點(diǎn)與哮喘患者的病情程度無顯著相關(guān)性。V4位點(diǎn)的SNPs與肺功能具有統(tǒng)計(jì)學(xué)意義。(3)ADAM33基因單體型分布在維吾爾族病例組和對(duì)照組中有統(tǒng)計(jì)學(xué)意義。
[Abstract]:Objective: to analyze the polymorphism and linkage disequilibrium relationship of ADAM33 gene T2OV4 locus in Uygur population in Xinjiang. To investigate the relationship between monoglycerin polymorphism and haplotype of T _ 2 and V _ 4 locus and susceptibility to bronchial asthma. Methods: the restriction fragment length polymorphism (RFLP) of the reaction product was analyzed by a case-control study. The polymorphism of T2V4 gene in ADAM33 gene was analyzed in 125 asthmatic patients and 125 healthy controls. Results the age of the two groups was 1: 1). There was no significant difference between the two sexes. The genotype frequency distribution of T2ADAM33 gene T2V4 locus conforms to the H / W equilibrium law. The genotype distribution and allele frequency of T2ADAM33 gene T2ADAM33 gene are different between the two groups and between the two groups. Compared with the frequency of alleles, The difference was statistically significant. Wild type alleles G and C were taken as reference, and mutant alleles A and G increased the risk of asthma. Their OR values were 2.139 and 1.912.(4)ADAM33 gene T2V4 polymorphism and asthma severity, respectively. There was no significant difference between the three genotypes (P < 0.092), but there was no significant difference in FEF 1 / predicted value% between the three genotypes (P < 0. 092 or 0. 146), but there was no significant difference in the GG genotypes (P < 0. 092, P < 0. 01, P < 0. 05). There was significant difference between the measured value and predictive value% level of FEV1 / FVC of CC genotype. The linkage disequilibrium was analyzed by pairing linkage disequilibrium analysis between two SNPs of P0.013 and ADAM33 gene. The results suggested that there were weak linkage disequilibrium among loci, and four haplotypes were constructed. The frequency of GG in asthmatic patients was significantly higher than that in the control group (OR = 1.596), and the frequency of CG in healthy control group was higher than that in the case group (OR = 0.442P). Conclusion there is a significant correlation between the T2V4 polymorphism of ADAM33 gene and the occurrence of asthma in Uygur population. Allele G at T2 locus may be a protective gene for asthma in Uygur population. Allele A may be the susceptibility gene of asthma, allele C may be the protective gene of asthma. Allele G may be the susceptibility gene of asthma, Guan2) there is no significant correlation between the two loci and the severity of asthma. The SNPs of V4 locus has statistical significance with pulmonary function. The haplotype of ADAM33 gene is distributed in Uygur case group. There was statistical significance in the radiation group.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R562.25

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