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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 investigate the polymorphism of SNP rs2013162 in non-syndromic cleft lip with or without cleft palate (NSCL / P) interferon regulatory factor 6 (IRF6) in Xinjiang Uygur and Han ethnic groups and among ethnic groups The difference in genotype frequency. Methods: One hundred NSCL / P NSCLC patients were selected as NSCL / P group (50 Uighur and 50 Han nationality) and 100 control subjects (50 Uighur and 50 Han nationality). The polymerase chain reaction-restriction fragment Length polymorphism (PCR-RELF) technique was used to analyze the polymorphism of IRF6 gene. The case-control study analyzed the genotype and allele frequency of the two groups and the frequency differences between the two ethnic groups. Results: The frequencies of GG genotype, allele G and T in rs2013162 locus were significantly different between NSCL / P group and control group (P <0.05). In locus of rs2013162 in locus Uygur, (P <0.05). The genotypes of GG and TT genotypes and alleles of Uygur in NSCL / P group of rs2013162 loci in Victoria and Han nationalities were significantly different from those in TT genotypes and alleles The frequencies of genotypes and alleles were not significantly different between the two ethnic groups (P> 0.05). CONCLUSION: There is a correlation between NSCL / P and GG genotype and allele G of rs2013162 locus in Xinjiang Uygur and Han nationality.