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TGF-β1基因^(-509)C>T单核苷酸多态性与椎间盘疾病的关系 被引量:12

Association of the promoter^(-509)C>T polymorphism of transforming growth factor-β1 with lumbar disc disease
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摘要 [目的]研究转化生长因子β1(TGF-β1)基因内含子861-20T>C和启动子-509C>T单核苷酸多态性与椎间盘疾病的相关关系。[方法]采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测105例椎间盘疾病患者和117例正常对照组TGF-β1基因内含子861-20T>C和启动子-509C>T单核苷酸多态性情况,并分析其与椎间盘疾病及椎间盘退变严重程度的关系。[结果]椎间盘疾病组和正常人群中不存在内含子861-20T>C单核苷酸多态性,均存在启动子-509C>T单核苷酸多态性。虽然启动子-509C>T单核苷酸多态性在椎间盘疾病组和正常人群中的分布无显著性差异(P>0.05),但启动子-509C>T单核苷酸多态性的分布差异与L4、5、L5S1的椎间盘退变严重程度有关。[结论]TGF-β1基因内含子861-20T>C位点和启动子-509C>T单核苷酸多态性与椎间盘疾病无关,但启动子-509C>T多态性可能与椎间盘疾病的发展过程有关。 [ Objective] To explore the association of polymorphism of intron^861-20T 〉 C and promoter^-509C 〉 T of transforming growth factor-β1 with lumbar disc disease. [Method] The polymorphisms of TGF-β1 gene, including polymorphisms of intron^861-20T 〉 C and promoter^-509C 〉 T, were analyzed by the polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) methods in 105 patients with lumbar disc diseases and 117 healthy controls. At the same time, the association of the polymorphisms of promoter^-509C 〉 T with the degree of L3,4, L4,5 and L5S1 disc degeneration were measured. [ Result ] There were the promoter^-509 C 〉 T polymorphism of TGF-β1 gene, but no intron^860-20T 〉 C polymorphism of TGF-β1 gene in two groups. There was no difference between the dixtribution of the promoter^-509C 〉 T polymorphism of TGF-β1 gene in two groups. The distribution of the promoter^-509 C 〉 T polymorphism of TGF-β1 gene in the cases was related with the degree of L3,4, L4,5 and L5S1 disc degeneration. [ Conclusion] Though no relation between promoter^-509 C 〉 T polymorphism of TGF-β1 gene and lumbar disc disease was found, we still found the promoter^-509C 〉 T polymorphism of TGF-β1 gene related with the degree of L4,5 and L5S1 disc degeneration.
出处 《中国矫形外科杂志》 CAS CSCD 北大核心 2006年第7期531-534,共4页 Orthopedic Journal of China
基金 国家自然科学基金(No.30471746) 广东省自然科学基金(No.5001754) 广东省社会发展计划基金(No.2005B34001006) 广东省卫生厅科学基金(No.B2005033)
关键词 椎间盘疾病 椎间盘退变 转化生长因子 多态性 Lumbar disc disease Intervertebral disc degeneration TGF-β1 Polymorphism
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参考文献11

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