关键词: 非综合征型唇腭裂, 干扰素调节因子6, 单核苷酸多态性

Abstract:

Objective To investigate the association between interferon regulatory factor 6（IRF6） gene polymorphism and non-syndromic oral clefting（NSOC）. Methods Experimental group consisted of 186 Ningxia NSOC patients, their parents（183 fathers and 174 mothers）, 172 core families（patient+parents）, and control group consisted of 200 normal children. DNA was extracted and PCR-restriction fragment length polymorphism（PCR-RFLP） was used to identify the genotypes of the samples, case-control analyses and transmission-disequilibrium test（TDT） were carried out. Results Compared with control group, there were significant differences in both rs642961′s and rs4844880′s AA genotype and A allele among NSOC patients（P<0.05）, but no difference in cleft palate（P=0.15, P=0.967, respectively）. In TDT analysis, the A allele of rs642961 had a strong over-transmission in NSOC（P<0.05）, so did the rs4844880′A allele（P<0.05）, but neither of them had significant difference in cleft palate（P=0.91, P=0.95, respectively）. Conclusion IRF6 gene polymorphism is associated with NSOC.

Key words: non-syndromic oral clefting, interferon regulatory factor 6, single nucleotide polymorphism