FoxO1基因多态性与新疆维吾尔族先天性马蹄内翻足的相关性研究  

Association between FOXO1 gene polymorphisms and idiopathic congenital talipes equinovarus of Uighur from Xinjiang

作　　者：艾克巴尔.阿不都热西提 程国杰[1] 王晶[1] 王磊[1] 

机构地区：[1]新疆医科大学附属中医医院,新疆乌鲁木齐830001

出　　处：《中国现代医学杂志》2016年第17期54-58,共5页China Journal of Modern Medicine

基　　金：国家自然科学基金(No:81160215)

摘　　要：目的探索Fox01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Fox01基因转录水平。采用拟合优度x2检验分析基因型分布频率是否符合Hardy—Weinberg平衡定律，运用x2检验法分析Fox01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Fox01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Fox01基因rs3751436、rs199728685、rs139436481位点基因型分布频率均符合Haar—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Fox01基因rs3751436、rs199728685、rs139436481位点可能无相关性，但不能排除Fox01与ICTEV的关联性。Objective To investigate the association between FOXOI gene polymorphisms of rs3751436, rs199728685, rs139436481 and idiopathic congenital talipes equinovarus （ICTEV） of Uighur from Xinjiang. Methods There were 70 Uighur children with ICTEV and 30 normal controls in this study. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to detect their genotypes of polymor- phism loci rs3751436, rs199728685 and rs139436481. The qRT-PCR was performed to evaluate the mRNA levels of FOXOI from the ICTEV patients and the normal controls. The Hard-Weinberg equilibrium for geno- typic distribution was estimated by the goodness of fit X2 tests. The relationships of genotype frequency and allelic frequency of FOXO1 with ICTEV were analyzed by X2 tests. Results Compared with the normal con- trols, the ICTEV patients showed down-regulation of FOXO1 gene transcription （P〈 0.05）. The result of good- heSS of fit V2 tests showed that the genotvnic distribution of rs3751436, rs199728685 and rs139436481 of thetwo groups was in Hard-Weinherg equilihrium （P〉0.05）. There was no significant difference ill the distribu- tion of the genotype fiequency or allelie frequency between both groups （P 〉 0.05）. Conclusions The rs3751436, rsl99728685 anti rs139436481 gene loci may nol be associated with ICTEV of Uighur from Xin- jiang, but the cowlelalion between FOXOI and ICTEV eouht not be excluded.

关 键 词：FOXO1 基因多态性 先天性马蹄内翻足 

分 类 号：R726.8[医药卫生—儿科]