| ORMDL3基因多态性与内蒙古地区蒙古族支气管哮喘的相关性研究 |
| 投稿时间：2014-10-19 修订日期：2014-11-13 点此下载全文 |
| 引用本文：杨婷,崔丽英.ORMDL3基因多态性与内蒙古地区蒙古族支气管哮喘的相关性研究[J].医学研究杂志,2015,44(8):38-40,52 |
| DOI：
10.11969/j.issn.1673-548X.2015.08.012 |
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| 基金项目:内蒙古自治区自然科学基金资助项目(2012MS1155) |
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| 中文摘要:目的 探讨ORMDL3基因多态性与内蒙古地区蒙古族哮喘的相关性。 方法 选取内蒙古地区蒙古族成人哮喘患者100例与蒙古族健康成人100例,提取外周静脉血基因组DNA,利用聚合酶链式反应(PCR)对SNPs7216389进行基因扩增,应用基因测序技术检测其3种基因型(TT/TC/CC)及等位基因(T/C)的频率分布情况。 结果 哮喘组的ORMDL3基因rs7216389位点的基因型分布频率与其对照组相比,差异有统计学意义(χ2=7.581,P=0.023)。比较两组等位基因分布频率提示 差异有统计学意义(χ2=9.091,P=0.003);比较包括本研究对象在内的不同种族人群间的rs7216389-T 等位基因频率分布的差异性,差异有统计学意义(P<0.05)。 结论 ORMDL3基因多态性与内蒙古地区蒙古族支气管哮喘的发生有一定相关性,SNPrs7216389在不同种族的患病人群中的分布有差异有统计学意义。 |
| 中文关键词:ORMDL3 支气管哮喘 rs7216389 蒙古族 |
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| Association Study of ORMDL3 Gene with Mongolian Bronchial Asthma in the Inner Mongolia |
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| Abstract:Objective To investigate the role of ORMDL3 genetic variants and asthma in Mongolian cohort of the Inner Mongolia region. Methods As the most-correlated locus to asthma susceptibility in the ORMDL3 gene analyses, single nucleotide polymorphism (SNP) rs7216389 was amplified by polymerase chain-reaction (PCR) and its T/C allele frequencies were detected by gene sequencing technology. Results We found strongly significant difference of genotype and the variation of allele frequencies in Mongolian patient-control cohorts (P=0.023 and 0.003, respectively). There was a significant difference for the expression of rs7216389 among diverse ethnical populations (P=0.624 and 0.778, respectively). Conclusion We confirmed the association between asthma risk in the Mongolian asthmatic cohorts and the variant in ORMDL3. The variation of allele frequencies also support the hypothesis that ethnical diversity could predispose to asthma. |
| keywords:ORMDL3 genes Bronchial asthma Genetic polymorphism the Mongolian nationality |
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