新疆维、汉两民族非综合征性唇腭裂IRF6基因多态性分析

Analysis on IRF6 gene polymorphism in patients with non-syndromic cleft lip and/or palate of Uyghur nationality and Han nationality in Xinjiang

目的:探讨非综合征性唇腭裂(NSCL/P)干扰素调节因子6(IRF6)rs2013162位点单核苷酸多态性(SNP)在新疆维、汉两民族内和民族间基因型和等位基因型的频率差异。方法:抽取100例NSCL/P患者作为NSCL/P组(维吾尔族50例、汉族50例),对照组100例(维吾尔族50例、汉族50例),运用聚合酶链式反应-限制性片段长度多态性(PCR-RELF)技术来分析IRF6基因的多态性,病例-对照研究分析两组基因型和等位基因型频率及两民族内和民族间频率的差异。结果:rs2013162位点GG基因型和等位基因G和T频率在NSCL/P组和对照组中分布差异有统计学意义(P<0.05),维、汉两民族内rs2013162位点维吾尔族中GG和TT基因型及等位基因G和T分布差异有统计学意义(P<0.05),维、汉两民族间rs2013162位点NSCL/P组中维吾尔族GG和TT基因型和等位基因G的频率均高于汉族,两民族间基因型和等位基因型分布差异均无统计学意义(P>0.05)。结论:新疆维、汉族NSCL/P与rs2013162位点GG基因型及等位基因G存在相关性。

Objective： To explore the differences of genotypes and allele frequencies of single nucleotide polymorphism （SNP） of non - syndromie cleft lip and/or palate （NSCL,/P） interferon regulatory factor -6 （IRF -6 ） rs2013162 locus between the patients of Uyghur nationality and the patients of Han nationality. Methods ： One hundred NSCL/P patients were selected as NSCL/P group, 50 patients of Uy- ghur nationality and 50 patients of Han nationality were included; while one hundred patients without NSCL/P were selected as control group, 50 patients of Uyghur nationality and 50 patients of Han nationality were included. PCR - RELF technique was used to analyze IRF6 gene polymorphism, a case - control study was conducted to analyze frequencies of genotypes and allele between the two groups and the differences between the patients of Uyghur nationality and the patients of Han nationality. Results： Among the patients of Uyghur nationality and the patients of Han nationality, there were statistically significant differences in frequencies of GG genotype, allele G, and allele T of rs2013162 locus between NSCL/P group and control group （ P 〈 0. 05 ） ; among the patients of Uyghur nationality, there were statistically sig- nificant differences in GG genotype, T＇F genotype, allele G, and allele T of rs2013162 locus between NSCL/P group and control group （P 〈 0. 05 ） ; the frequencies of T genotype and allele G of rs2013162 locus in patients of Uyghur nationality were statistically significantly higher than those in patients of Han nationality, but there was no statistically significant difference in the distribution frequencies of genotypes and alleles between the patients of Uyghur nationality and the patients of Han nationality （ P 〉 0. 05 ） . Conclusion ： There is a correlation be- tween GG genotype and allele G of rs2013162 locus in patients with NSCL/P of Uyghur nationality and Han nationality.