本文選題：非綜合征性唇腭裂 + 干擾素調(diào)節(jié)因子　； 參考：《新疆醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的：探討IRF6基因單核苷酸多態(tài)性與新疆地區(qū)維吾爾人群非綜合征型唇腭裂的相關(guān)性。方法：研究對象為新疆地區(qū)世居維吾爾族非綜合征性唇腭裂患者100例,并以60例因上呼吸道感染而住院的兒童為對照組。收取外周靜脈血2m1,所有樣本提取基因組DNA,用第二代測序技術(shù)進(jìn)行IRF6基因組DNA測序,將測序結(jié)果與基因組數(shù)據(jù)庫進(jìn)行比較,并對數(shù)據(jù)進(jìn)行質(zhì)量控制,找出高頻SNP,進(jìn)行遺傳學(xué)分析。結(jié)果：共發(fā)現(xiàn)了12個(gè)高頻SNP位點(diǎn),rs7545538位點(diǎn)CC基因型(P=0.037)和C等位基因(P=0.007), rs7545542位點(diǎn)C等位基因(P=0.044)和rs2235373位點(diǎn)G等位基因(P=0.049)與NSCL/P有關(guān)聯(lián)。rs861019、rs7552506、rs2235377、rs2235371、 rs2013162、rs12403006、rs846808、rs34743335、rs151296501等位點(diǎn)基因型和等位基因與NSCL/P無關(guān)聯(lián)。rs2235371、rs2013162、rs7552506、rs861019、rs2235377等5個(gè)位點(diǎn)在一個(gè)單倍體域,rs2235371和rs2235377呈現(xiàn)完全連鎖不平衡(D’=0.97),并組成4種單倍型：CCGGT CCGAT CACAT TAGAC,其中最有意義的單倍型為CCGAT (P=0.032)。而rs12403006、rs34743335、rs7454538等三個(gè)位點(diǎn)存在強(qiáng)的連鎖不平衡,組成的3種單倍型：TACATGTAG,其中最有意義的單倍型為TAC(P=0.009), TAG(P=0.003)。結(jié)論：在本研究的新疆維吾爾人群中我們發(fā)現(xiàn),IRF6基因多態(tài)性與非綜合征性唇腭裂的發(fā)生存在相關(guān)性。
[Abstract]:Objective: to investigate the association between IRF6 gene single nucleotide polymorphism and non-syndromic cleft lip and palate in Uygur population. Methods: 100 cases of non-syndromic cleft lip and palate in Xinjiang Uygur nationality and 60 cases of children hospitalized with upper respiratory tract infection as control group were studied. The genomic DNA of IRF6 was sequenced by the second generation sequencing technique. The results were compared with the genomic database, the quality of the data was controlled, the high frequency SNPs were found, and the genetic analysis was carried out. Results: a total of 12 high frequency SNP loci rs7545538 locus CC genotypes (P0. 037) and C alleles (P0. 007), rs7545542 locus C alleles (P0. 044) and rs2235373 locus G alleles (P0. 049) were found to be associated with NSCL- P. Rs86101019rs7552506rs2235377rs22353371, rs2013162rs12403006rs846808rs347808rs347808rs151296501 were not associated with NSCL- P In a haploid domain, rs2233771 and rs2235377 showed complete linkage disequilibrium (DGT-0.97), and four haplotypes were composed of four haplotypes: CCGGT CCGAT CATAGAGAC.The most significant haplotype was CCGAT (P0.032). However, there was strong linkage disequilibrium at rs12403006, rs34743335 and rs7454538, which consisted of three haplotypes: TACATGTAGTAG, among which the most significant haplotypes were TAC (P0. 009) and tag (P0. 003). Conclusion: we found the association between IRF6 gene polymorphism and non-syndromic cleft lip and palate in Xinjiang Uygur population.
【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】：2014
【分類號】：R782.2

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本文編號：2116799