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（P ＞0．05）。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：CCT ＞CAT ＞TAC，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（P ＞0．05）。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。%Objective:To study the association between rs2235371,rs2013162,rs2235377 SNPs in interferon regulatory factor 6 (IRF6)gene and non-syndromic cleft lip with or without cleft palate(NSCL/P)in Xinjiang Uyghur population.Methods:100 Uyghur NSCL/P patients from Xinjiang were included in the case group and 60 Uyghur inpatients with upper respiratory tract infection were se-lected in the control group.Next,generation sequencing was used,DNA sequencing results were compared with the information on the genome database and genetic analysis were made.Results:There were no significant differences in the frequency distribution of both genotypes and alles when the cases were campared with the controls at the rs2235371,rs2013162 and rs2235377 loci(P >0.05). Above three loci were located in the same block,rs2235371 and rs2235377 loci presents the strong linkage disequilibrium(r2 =0.949, D'=0.974).Possible haplotypes were:CCT >CAT >TAC,and there was no significant difference between the cases and controls in haplotype distribution(P >0.05).Conclusion:Polymorphisms of rs2235371,rs2013162 and rs2235377 in IRF6 gene may be associ-ated with NSCL/P in Xinjiang Uygur people.
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