IRF6基因SNPs与新疆维吾尔族非综合征型唇腭裂相关性研究

发布时间：2018-12-14 21:55

【摘要】：目的:探讨IRF6基因rs2235371、rs2013162、rs2235377位点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(NSCL/P)的相关性。方法:试验组为新疆地区世居维吾尔族NSCL/P患者100例,对照组为60例因上呼吸道感染而住院的儿童,用二代测序技术对血样进行DNA测序,将测序结果与基因组数据库进行比较,进行遗传学分析。结果:与对照组相比,NSCL/P组rs2235371、rs2013162、rs2235377位点基因型及等位基因频率分布差异无统计学意义(P0.05)。以上3个位点位于同一个单倍体域,rs2235371和rs2235377等2个位点存在较强的连锁不平衡(r2=0.949,D'=0.974)。单倍体域里推测出最常见的单倍体型共3种:CCTCATTAC,3种单倍体型在病例组与对照组间分布差别无统计学意义(P0.05)。结论:IRF6基因rs2235371、rs2013162、rs2235377位点SNPs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 between single nucleotide polymorphism (SNP) of rs2235371,rs2013162,rs2235377 locus of IRF6 gene and non-syndromic cleft lip and palate (NSCL/P) in Xinjiang Uygur population. Methods: the study group consisted of 100 NSCL/P patients of Uygur nationality in Xinjiang and 60 children with upper respiratory tract infection in the control group. The blood samples were sequenced by second generation sequencing technique. The sequencing results were compared with the genomic database for genetic analysis. Results: there was no significant difference in the frequency distribution of rs2235371,rs2013162,rs2235377 locus genotype and allele between NSCL/P group and control group (P0.05). The above three loci were located in the same haploid domain, and there were strong linkage disequilibrium between rs2235371 and rs2235377 (r20.949). There were three most common haploid types in haploid domain: there was no significant difference in the distribution of CCTCATTAC,3 haploid between the case group and the control group (P0.05). Conclusion: rs2235371,rs2013162,rs2235377 SNPs of IRF6 gene may be associated with cleft lip and palate in Xinjiang Uygur population.
【作者单位】：新疆医科大学第一附属医院颌面外科;
【基金】：新疆维吾尔自治区自然科学基金(编号:2012211A069)
【分类号】：R782.2

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