CAJ | 학술논문

目的：探讨新疆地区维吾尔族人群干扰素调节因子6（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（NSCL/P）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，抽取其静脉血，用新一代测序方法对目标区域测序，进行遗传学分析。结果在新疆维吾尔族人群中，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（r 2＜0．8）。结论新疆维吾尔族人群 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。
목적：탐토신강지구유오이족인군간우소조절인자6（IRF6）기인 rs 7545538、rs7545542、rs2235373위점단핵감산다태성여비종합정성진악렬적상관성。방법선택신강지구세거유오이족비종합정성진악렬（NSCL/P）환자100례，대조조위60례인상호흡도감염이주원적신강적유오이족인동，추취기정맥혈，용신일대측서방법대목표구역측서，진행유전학분석。결과재신강유오이족인군중，rs7545538위점 CC 기인형（P ＝0．037）화 C등위기인（P ＝0．007）、rs7545542위점 C 등위기인（P ＝0．044）화 rs2235373위점 G 등위기인（P ＝0．049）여NSCL/P 유관련；대이상3개 SNPs 진행련쇄불평형분석，미능증실존재련쇄불평형（r 2＜0．8）。결론신강유오이족인군 IRF6기인 rs7545538、rs7545542、rs2235373위점 SNPs 가능여신강유오이족인군진악렬발병가능존재상관성。
Objective To study the association between rs7545538, rs7545542, rs2235373 SNPs in interferon regulatory factor 6 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 case in this study and 60 Uyghur inpatients with upper respiratory tract infection were selected as control.Next generation sequencing was used and compared sequencing result with the informa-tion on the genome database and genetic analysis were made.Results rs7545538 s CC genotype and C al-lele,rs7545542 site C allele and rs2235373 site G allele is associated with NSCL/P.significant evidence of linkage disequilibrium were not found in the threeloci (r 2 < 0.8).Conclusion The polymorphisms of rs7545538,rs7545542,rs2235373 in IRF6 gene may be associated with non-syndromic cleft lip with or without cleft palate in Xinjiang Uygur people.