| TIM-1基因多态性与原发性肾病综合征的关系 |
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| 引用本文： | 陈娟,袁丽萍,鹿玲.TIM-1基因多态性与原发性肾病综合征的关系[J].实用儿科临床杂志,2011,26(5):351-353. |
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| 作者姓名： | 陈娟 袁丽萍 鹿玲 |
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| 作者单位： | 安徽医科大学第一附属医院,儿科,合肥,230022 |
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| 摘 要： | 目的 研究TIM-1基因多态性与儿童原发性肾病综合征(PNS)的相关性.方法 采用病例对照研究,选取PNS患儿57例,应用PCR-限制性片段长度多态性分析、PCR-聚丙烯酰胺凝胶电泳分析、基因测序技术检测PNS患儿和144例健康儿童(健康对照组)的TIM-1基因启动子区-1454G/A的SNP与外显子4 ins/del多态性,计算基因型和等位基因频率.结果 健康对照组TIM-1启动子区-1454位G/G、G/A和A/A基因型频率分别为0.608、0.328、0.064,而PNS组频率分别为0.772、0.228、0.000,其基因型频率与健康对照组比较差异有统计学意义(χ2=6.561,P=0.038),且PNS组患儿携带-1454G等位基因的频率增高(OR=2.295,95%CI:1.199～4.390,P=0.011);健康对照组TIM-1外显子4 del/del、del/ins和ins/ins基因型频率分别为0.611、0.340、0.049,而PNS组频率分别为0.579、0.368、0.053,其基因型频率与健康对照组比较差异无统计学意义(χ2=0.176,P=0.916).结论 TIM-1基因启动子-1454G/A的单核苷酸多态性可能与儿童PNS的易感性相关.
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| 关 键 词： | 肾病综合征 基因多态性 儿童 |
Association between TIM-1 Gene Polymorphisms and Primary Nephrotic Syndrome in Children |
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| CHEN Juan
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YUAN Li-ping
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LU Ling.Association between TIM-1 Gene Polymorphisms and Primary Nephrotic Syndrome in Children[J].Journal of Applied Clinical Pediatrics,2011,26(5):351-353. |
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| Authors: | CHEN Juan YUAN Li-ping LU Ling |
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| Institution: | CHEN Juan,YUAN Li-ping,LU Ling(Department of Pediatrics,the First Affiliated Hospital of Anhui Medical University,Hefei 230022,Anhui Province,China) |
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| Abstract: | Objective To assess the genetic association between the TIM-1 polymorphisms and primary nephrotic syndrome(PNS)in children. Methods A case-control study was performed in 57 cases of PNS patients and 144 cases of healthy controls.Associations between the TIM-1 polymorphisms and PNS were examined by using polymerase chain reaction-restriction fragment length polymorphism analysis,PCR-polyacrylamide gel electrophoresis and gene sequencing technology,genotype and allele frequencies were calculated;the relations... |
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| Keywords: | primary nephrotic syndrome gene polymorphism child |
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