IRF6基因与新疆维吾尔人群非综合征性唇腭裂的关联

发布时间：2018-07-12 10:07

本文选题：非综合征性唇腭裂 + 干扰素调节因子　；参考：《新疆医科大学》2014年硕士论文

【摘要】：目的：探讨IRF6基因单核苷酸多态性与新疆地区维吾尔人群非综合征型唇腭裂的相关性。方法：研究对象为新疆地区世居维吾尔族非综合征性唇腭裂患者100例,并以60例因上呼吸道感染而住院的儿童为对照组。收取外周静脉血2m1,所有样本提取基因组DNA,用第二代测序技术进行IRF6基因组DNA测序,将测序结果与基因组数据库进行比较,并对数据进行质量控制,找出高频SNP,进行遗传学分析。结果：共发现了12个高频SNP位点,rs7545538位点CC基因型(P=0.037)和C等位基因(P=0.007), rs7545542位点C等位基因(P=0.044)和rs2235373位点G等位基因(P=0.049)与NSCL/P有关联。rs861019、rs7552506、rs2235377、rs2235371、 rs2013162、rs12403006、rs846808、rs34743335、rs151296501等位点基因型和等位基因与NSCL/P无关联。rs2235371、rs2013162、rs7552506、rs861019、rs2235377等5个位点在一个单倍体域,rs2235371和rs2235377呈现完全连锁不平衡(D’=0.97),并组成4种单倍型：CCGGT CCGAT CACAT TAGAC,其中最有意义的单倍型为CCGAT (P=0.032)。而rs12403006、rs34743335、rs7454538等三个位点存在强的连锁不平衡,组成的3种单倍型：TACATGTAG,其中最有意义的单倍型为TAC(P=0.009), TAG(P=0.003)。结论：在本研究的新疆维吾尔人群中我们发现,IRF6基因多态性与非综合征性唇腭裂的发生存在相关性。
[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.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R782.2

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