CAJ | 학술논문

背景：目前缺乏关于新疆维吾尔族非综合征性唇腭裂相关易感基因研究相关遗传资料。目的：探讨IRF6基因与新疆地区维吾尔人群非综合征性唇腭裂的相关性。<br>　　方法：选择久居新疆的维吾尔族非综合征性唇腭裂患者100例和同期上呼吸道感染儿童60例做对照组，用第二代测序技术对IRF6基因编码区、5’UTR区及第一外显子前500 bp进行测序。<br>　　结果与结论：将测序结果与基因组数据库进行比较，共发现11个高频SNPs位点：rs861019、rs7552506、rs2235377、rs2235371、rs2013162、rs7545538、rs7545542、rs12403006、rs846808、rs34743335、rs2235373。rs7545538(C>G，P=0.007)，rs7545542(C>T，P=0.044)和rs2235373(G>A，P=0.049)等位基因分布在病例组与对照组间差异有显著性意义(P<0.05)；rs7545538基因型分布在病例组与对照组间差异有显著性意义(P=0.037)；余位点等位基因与基因型分布在病例组与对照组间差异无显著性意义(P>0.05)。对以上11个高频SNPs进行单倍型分析，共构成2个单倍体域，第一个单倍体域最常见的单倍型有4种：CCGGT>CCGAT>CACAT>TAGAC，其中最有意义的单倍型为CCGAT(P=0.032)；第二个单倍体域最常见的单倍型有3种：TAC>ATG>TAG，其中最有意义的单倍型为TAC(P=0.009)，TAG(P=0.003)。分析结果发现，IRF6基因与非综合征性唇腭裂的发生可能存在相关性。
배경：목전결핍관우신강유오이족비종합정성진악렬상관역감기인연구상관유전자료。목적：탐토IRF6기인여신강지구유오이인군비종합정성진악렬적상관성。<br>　　방법：선택구거신강적유오이족비종합정성진악렬환자100례화동기상호흡도감염인동60례주대조조，용제이대측서기술대IRF6기인편마구、5’UTR구급제일외현자전500 bp진행측서。<br>　　결과여결론：장측서결과여기인조수거고진행비교，공발현11개고빈SNPs위점：rs861019、rs7552506、rs2235377、rs2235371、rs2013162、rs7545538、rs7545542、rs12403006、rs846808、rs34743335、rs2235373。rs7545538(C>G，P=0.007)，rs7545542(C>T，P=0.044)화rs2235373(G>A，P=0.049)등위기인분포재병례조여대조조간차이유현저성의의(P<0.05)；rs7545538기인형분포재병례조여대조조간차이유현저성의의(P=0.037)；여위점등위기인여기인형분포재병례조여대조조간차이무현저성의의(P>0.05)。대이상11개고빈SNPs진행단배형분석，공구성2개단배체역，제일개단배체역최상견적단배형유4충：CCGGT>CCGAT>CACAT>TAGAC，기중최유의의적단배형위CCGAT(P=0.032)；제이개단배체역최상견적단배형유3충：TAC>ATG>TAG，기중최유의의적단배형위TAC(P=0.009)，TAG(P=0.003)。분석결과발현，IRF6기인여비종합정성진악렬적발생가능존재상관성。
BACKGROUND:There are few genetic data related to nonsyndromic cleft lip and palate in Xinjiang Uygur population. OBJECTIVE:To investigate the relationship between interferon regulatory factor 6 (IRF6) and non-syndromic cleft lip and palate in Xinjiang Uygur population. METHODS:A total of 100 Uyghur patients with non-syndromic cleft lip and palate from Xinjiang were included as case group, and meanwhile, 60 children with upper respiratory infection were enrol ed as controls. Next-generation sequencing was used to detect coding region, 5’UTR and 500 bp before exon1 of IRF6 gene, and sequencing results were compared with the information on the genome database. RESULTS AND CONCLUSION:Eleven high-frequency SNPs were found:rs861019, rs7552506, rs2235377, rs2235371, rs2013162, rs7545538, rs7545542, rs12403006, rs846808, rs34743335, rs2235373. The frequencies of al eles of loci rs7545538 (C>G, P=0.007), rs7545542 (C>T, P=0.044) and rs2235373 (G>A, P=0.049) were significantly different in the case group and control group;the genotype distribution of rs7545538 showed significant difference between the case group and control group (P=0.037);the genotype distribution and the frequency of al eles of other loci had no significant difference between the case group and control group (P>0.05). Two blocks were identified in the 11 high-frequency SNPs. There were four common haploid types in Block 1:CCGGT>CCGAT>CACAT>TAGAC, and the most significant single type was CCGAT (P=0.032). There were three common haploid types in Block 2:TAC>ATG>TAG, and the most significant single types were TAC (P=0.009) and TAG (P=0.003). These findings indicate that IRF6 gene polymorphisms are probably associated with the occurrence of non-syndromic cleft lip and palate in Xinjiang Uygur population.