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目的探索Fox O1基因多态位点rs3751436、rs199728685、rs139436481与新疆维吾尔族先天性马蹄内翻足(ICTEV)的相关性。方法选取70例维吾尔族ICTEV患儿和30例正常健康儿童为研究对象,应用限制性片段长度多态性聚合酶链反应研究实验对象rs3751436、rs199728685、rs139436481多态性位点基因型。运用实时荧光定量聚合酶链反应法检测维吾尔族ICTEV患儿和正常健康儿童肌肉组织Fox O1基因转录水平。采用拟合优度χ~2检验分析基因型分布频率是否符合Hardy-Weinberg平衡定律,运用χ~2检验法分析Fox O1基因多态位点基因型、等位基因与ICTEV的相关性。结果维吾尔族ICTEV患儿肌肉组织中Fox O1基因转录水平与正常健康儿童比较,差异有统计学意义(P<0.05),其转录水平下调;Hardy-Weinberg平衡检验结果显示,新疆维吾尔族ICTEV患儿与正常健康儿童的Fox O1基因rs3751436、rs199728685、rs139436481位点基因型分布频率均符合Hardy-Weinberg平衡(P>0.05)。基因型、等位基因关联分析表明,ICTEV组和正常健康儿童rs3751436、rs199728685、rs139436481位点基因型、等位基因分布频率比较差异无统计学意义(P>0.05)。结论维吾尔族ICTEV与Fox O1基因rs3751436、rs199728685、rs139436481位点可能无相关性,但不能排除Fox O1与ICTEV的关联性。
Objective To explore the association of FoxO1 polymorphism rs3751436, rs199728685, rs139436481 with the congenital clubfoot (ICTEV) in Uygur in Xinjiang. Methods Seventy Uygur children with ICTEV and 30 healthy children were enrolled in this study. The genotypes of rs3751436, rs199728685 and rs139436481 polymorphisms were studied by restriction fragment length polymorphism (PCR). Real-time fluorescent quantitative polymerase chain reaction method was used to detect the FoxO1 gene transcription level in muscle tissue of Uighur ICTEV children and normal healthy children. The goodness of fit (χ ~ 2) test was used to analyze whether the genotype distribution frequency conformed to the Hardy-Weinberg equilibrium law. Theχ ~ 2 test was used to analyze the association of FoxO1 genotype and allele with ICTEV. Results The transcriptional level of Fox O1 in muscle tissue of Uighur ICTEV children was significantly lower than that in normal healthy children (P <0.05), and the transcription level of FoxO1 was lower in Uighur ICTEV children. The results of Hardy-Weinberg equilibrium test showed that the Uighur ICTEV children The frequencies of genotypes of rs3751436, rs199728685 and rs139436481 in Fox O1 gene of healthy children were in accordance with Hardy-Weinberg equilibrium (P> 0.05). Genotype and allele association analysis showed that there was no significant difference in genotype and allele frequencies between rsteens, rs199728685 and rs139436481 in ICTEV group and normal healthy children (P> 0.05). Conclusion The Uygur ICTEV and Fox O1 gene rs3751436, rs199728685, rs139436481 sites may not be related, but Fox O1 and ICTEV association can not be ruled out.