| 载脂蛋白E上3个氨基酸缺失-脂蛋白肾病相关的基因突变 |
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| 引用本文： | Chen YQ,Zhang H,Zhu SL,Zou WZ,Wang M,Liu ZS,Wang HY. 载脂蛋白E上3个氨基酸缺失-脂蛋白肾病相关的基因突变[J]. 中华医学杂志, 2003, 83(9): 774-777 |
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| 作者姓名： | Chen YQ Zhang H Zhu SL Zou WZ Wang M Liu ZS Wang HY |
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| 作者单位： | 1. 100034,北京大学第一医院肾内科
2. 郑州大学第一附属医院肾内科 |
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| 基金项目： | 首都医学发展科研基金资助 (ZD199910 ) |
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| 摘 要： | 目的 通过对3例脂蛋白肾病患者(其中2例为母子,1例与他们无血缘关系)的载脂蛋白E(apoE)基因的分析,研究脂蛋白肾病的发病机制。方法 使用限制性酶切片段长度多态性的方法分析3例患者及其中一些家系成员的apoE的基因型,对患者的apoE进行DNA测序。结果 该3例脂蛋白肾病患者均携带一个apoE的突变体(3个氨基酸的缺失)。结论 该突变与脂蛋白肾病有关,在中国汉族人可能为脂蛋白肾病的致病性基因突变。
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| 关 键 词： | 载脂蛋白E 氨基酸缺失 脂蛋白肾病 基因突变 |
| 修稿时间： | 2002-09-11 |
A 3-amino acid deletion of apolipoprotein E found in 3 Chinese lipoprotein glomerulopathy patients |
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| Chen Yu-qing,Zhang Hong,Zhu Shi-le,Zou Wan-zhong,Wang Mei,Liu Zhang-suo,Wang Hai-yan. A 3-amino acid deletion of apolipoprotein E found in 3 Chinese lipoprotein glomerulopathy patients[J]. Zhonghua yi xue za zhi, 2003, 83(9): 774-777 |
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| Authors: | Chen Yu-qing Zhang Hong Zhu Shi-le Zou Wan-zhong Wang Mei Liu Zhang-suo Wang Hai-yan |
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| Affiliation: | Department of Nephrology, First Hospital of Peking University, Beijing 100034, China. |
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| Abstract: | Objective To analyze the mutation of apolipoprotein E (apoE) gene so as to investigate the pathogenesis of lipoprotein glomerulopathy (LPG). Methods Restriction fragment length polymorphism methods was used to analyze the apoE genotypes of three Chinese patients with LPG and 3 of their relatives. Automated DNA sequencing was performed upon their apoE genes. Results A 9 bp deletion in exon 4 of apoE, resulting in a 3 amino acid deletion (residues 142 144 0) was identified. Conclusion A 3 amino acid deletion of apoE has been discovered which is associated with LPG. |
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| Keywords: | Lipoprotein glomerulopathy Apolipoprotein E |
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