MTHFR基因单核苷酸多态性与新疆地区维吾尔族非综合征性唇腭裂的相关性研究

目的:探讨MTHFR基因rs1801133、rs3818762、rs1801131、rs1476413、rs1994798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的相关性。方法:研究对象均为新疆地区世居维吾尔族,病例组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儿童,用DNA二代测序技术对目标区域进行测序,进行遗传学分析。结果:在新疆维吾尔人群中,与对照组相比,NSCL/P组rs1801133、rs3818762、rs1801131、rs1476413、rs1994798位点基因型及等位基因频率分布差异无统计学意义。连锁不平衡分析显示:以上5个位点位于同一个单倍体域,rs3818762和rs1476413等2个位点存在较强的连锁不平衡(r²=0.938,D’=1)。单倍型分析可推测出最常见的单倍体型共5种:GCTAA>GCTAG>CTGGG>GCTGG>GCGGG,5种单倍体型在病例组与对照组间分布差别无统计学意义。结论:MTHFR基因rs1801133、rs3818762、rs1801131、rs1476413、rs1994798等5个位点基因型及等位基因频率在患儿与正常人之间比较没有统计学意义。

Association between SNPs of MTHFR Gene and Non-syndromic Cleft Lip with or without Cleft Palate in Xinjiang Uyghur Population.

Objective: To study the association between SNPs of methylenetetra hydrofolate reductase (MTHFR) gene at rs1801133,rs3818762,rs1801131,rs1476413,rs1994798 and non-syndromic cleft lip with and without cleft palate in Xinjiang Uyghur population. Methods: 100 Uyghur non-syndromic cleft lip with or without palate patients from Xinjiang were included as the study group in this study and 60 child Uyghur inpatients with upper respiratory tract infection were selected as the control group. Next generation sequencing was used to sequence the target area. Sequencing results were compared with the information in the genome database and genetic analysis was also made. Results: There were no significant differences in the frequency distribution of both genotypes and allels between cleft lip patients and controls. Analysis of the linkage disequilibrium showed that all five loci were located in the same block; rs3818762 and rs1476413 loci showed strong linkage disequilibrium (r²=0.938, D’=1). Possible haplotypes were: GCTAA>GCTAG>CTGGG>GCTGG>GCGGG. Distribution of five halotypes showed no significant differences between the study group and the control group. Conclusion: There were no significant differences in the frequency distribution of both genotypes and allels when the study group was compared with the control group at the rs1801133, rs3818762, rs1801131, rs1476413, and rs1994798 loci of MTHFR gene.