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目的研究干扰素调节因子6(IRF6)基因rs2235371和rs2235375位点单核苷酸多态性(SNP)与新疆维吾尔族、汉族非综合征性唇腭裂的关系,并探讨两位点在维吾尔族、汉族两个民族内和民族间基因型和等位基因型的频率差异。方法在流行病学调查的基础上,按照卫生部《中国妇幼卫生监测工作手册》出生缺陷诊断标准,同时参照国际疾病分类第10次修订本(ICD-10)进行唇腭裂诊断,选取100例非综合征性唇腭裂(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),运用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术来分析IRF6基因的多态性,检验基因型分布是否符合哈迪-温伯格平衡(HWE),分析基因型和等位基因型频率及其在两民族内和民族间频率分布的差异性。结果两位点基因型频率分布符合HWE(P>0.05),IRF6基因的rs2235371位点等位基因C和T频率及rs2235375位点GG基因型和等位基因G和C频率在NSCL/P组和对照组比较,分布差异均具有统计学意义(P<0.05)。维、汉两民族内,IRF6基因的rs2235371位点维族中TT基因型和汉族中CC和CT基因型分布差异有统计学意义(P<0.05);IRF6基因的rs2235375位点维族中等位基因G和C和汉族中GG基因型和等位基因G和C分布差异有统计学意义(P<0.05)。维、汉两民族间,IRF6基因型的rs2235371位点,NSCL/P组中维族CC和TT基因型和等位基因C的频率高于汉族,两民族间CT和TT基因型分布差异有统计学意义(P<0.05)。rs2235375位点NSCL/P组中维族CC和等位基因G的频率均高于汉族,维、汉两民族间CC基因型和等位基因G和C的分布差异有统计学意义(P<0.05)。结论新疆维吾尔族、汉族NSCL/P与IRF6基因的rs2235371位点等位基因C及rs2235375位点GG基因型及等位基因G存在相关性。
Objective To investigate the relationship between polymorphisms of rs2235371 and rs2235375 of interferon regulatory factor 6 (IRF6) gene and non-syndromic cleft lip and palate of Uygur and Han nationalities in Xinjiang Uygur and Han nationality. Frequency differences between genotypes and alleles in Han nationality and in two nationalities. Methods On the basis of epidemiological investigation, according to the diagnostic criteria of birth defects in the “Maternal and Child Health Surveillance Work Handbook” issued by the Ministry of Public Health and with reference to the 10th Revision of the International Classification of Diseases (ICD-10) for the diagnosis of cleft lip and palate, 100 cases of non- Patients with NSCL / P in NSCL / P group were enrolled in this study. NSCL / P group (50 Uygur and 50 Han patients) and 100 control subjects (50 Uygur and 50 Han patients) were treated with matrix-assisted laser desorption ionization time of flight (MALDI-TOF-MS) was used to analyze the polymorphism of IRF6 gene to test whether the genotype distribution accorded with Hardy-Weinberg equilibrium (HWE), to analyze the genotype and allele frequency and its relationship with the two peoples And ethnic differences in the frequency distribution. Results The frequency distribution of genotypes at the two loci was in accordance with HWE (P> 0.05). The frequency of C and T alleles at rs2235371 and GG and C at rs2235375 of IRF6 gene were significantly higher in NSCL / P and The differences between the two groups were statistically significant (P <0.05). There were significant differences in the distribution of TT genotypes in Uyghur ethnic group (rs2235371) and CC genotypes (genotypes) and CT genotypes (p <0.05) in Han and Uygur nationality ethnic groups in China and Uzbekistan. There were significant differences in the distribution of GG genotype and allele G and C between C and Han (P <0.05). The frequency of CC and TT genotypes and allele C of Uighurs in NSCL / P group was higher than that of Han nationality in the locus of rs2235371 in IRF6 genotypes between Victoria and Han ethnic groups. The distribution of CT and TT genotypes between the two ethnic groups was statistically different Significance (P <0.05). The frequency of CC and allele G of Uighur population in NSCL / P group at rs2235375 locus was higher than that in Han nationality. There was significant difference in the distribution of CC genotypes and alleles G and C between Victoria and Han (P <0.05) . Conclusions There is a correlation between the genotype C of rs2235371 and the GG genotype of rs2235375 and the allele G of NSCL / P and IRF6 genes in Xinjiang Uygur and Hans.