新疆维吾尔族干扰素调节因子6基因单核苷酸多态性与非综合征性唇腭裂相关性研究

发布时间：2018-07-05 15:13

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》2015年硕士论文

【摘要】：目的:探讨新疆地区维吾尔人群IRF6基因rs 7545538、rs7545542、rs2235373位点单核苷酸多态性与非综合征性唇腭裂的相关性。方法:选择新疆地区世居维吾尔族非综合征性唇腭裂患者100例,对照组为60例因上呼吸道感染而住院的新疆籍维吾尔族儿童,收取其静脉血,用新一代测序方法对目标区域测序,进行遗传学分析。结果:在新疆维吾尔人群中,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;对以上3个SNPs进行连锁不平衡分析,未能证实存在连锁不平衡(r20.8)。结论:新疆维吾尔人群IRF6基因rs7545538、rs7545542、rs2235373位点SNPs可能与新疆维吾尔族人群唇腭裂发病可能存在相关性。
[Abstract]:Objective: to investigate the association of rs7545538rs7545542rs2235373 single nucleotide polymorphism with non-syndromic cleft lip and palate in Uygur population in Xinjiang. Methods: 100 cases of non-syndromic cleft lip and palate in Xinjiang Uygur nationality and 60 children of Xinjiang Uygur nationality who were hospitalized with upper respiratory tract infection were selected and their venous blood was collected. The target region was sequenced by a new generation sequencing method and genetic analysis was carried out. Results: in Xinjiang Uygur population, rs7545538 CC genotype (Pn0.037), C allele (P0. 007), rs7545542 locus C allele (P0. 044) and rs2235373 locus G allele (P0. 049) were associated with NSCL rp. The linkage disequilibrium was not proved (r20.8). Conclusion: SNPs at rs7545538rs7545542rs2235373 in Xinjiang Uygur population may be associated with 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】：2015
【分类号】：R782.2

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