| 中国人群家族性高胆固醇血症LDLR基因突变研究进展 |
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| 作者姓名： | Dai YF Sun LY Zhang XB Wang LY |
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| 作者单位： | 首都医科大学附属北京安贞医院,北京市心肺血管疾病研究所,北京,100029 |
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| 基金项目： | 国家自然科学基金,北京市自然科学基金 |
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| 摘 要： | 家族性高胆固醇血症(Familial hypercholesterolemia,FH)主要是由于低密度脂蛋白受体(Low-density lipoprotein receptor,LDLR)基因突变导致的单基因显性遗传性疾病。FH患者LDLR基因突变导致细胞膜表面LDLR减少或缺如,机体代谢胆固醇能力降低,血浆胆固醇增高并沉积在不同的组织和器官,常伴有全身黄色瘤和早发冠心病,因此FH也是最常见的严重代谢性疾病。世界范围内对LDLR基因突变的报道总共有1741种,经整理我国目前报道的140例FH指示病例,包括108种LDLR基因突变类型。文章对已报道的中国FH患者LDLR基因突变特点进行系统分析和综述,旨在为FH诊断治疗提供参考依据。
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| 关 键 词： | 高胆固醇血症 家族性 低密度脂蛋白受体 基因突变 中国人群 |
Research progression of LDLR mutations in Chinese Familial hypercholesterolemia |
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| Dai YF,Sun LY,Zhang XB,Wang LY.Research progression of LDLR mutations in Chinese Familial hypercholesterolemia[J].Hereditas,2011,33(1):1-8. |
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| Authors: | Dai Yan-Fang Sun Li-Yuan Zhang Xin-Bo Wang Lu-Ya |
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| Institution: | DAI Yan-Fang,SUN Li-Yuan,ZHANG Xin-Bo,WANG Lu-Ya Beijing Institute of Heart Lung and Blood Vessel Diseases-Beijing Anzhen Hospital,Affiliated of Capital Medical University,Beijing 100029,China |
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| Abstract: | Familial hypercholesterolemia(FH),one monogenic autosomal dominant disease,mainly results from genetic defects in the low-density lipoprotein receptor(LDLR) gene,which leads to the reduction or absence of cell surface LDLR,disorder of cholesterol metabolism,and cholesterol deposition in different tissues and organs.FH is a common metabolic disease clinically characterized by the presence of xanthomas and premature coronary heart disease.To date,about 1 741 variants have been identified in gene LDLR,among wh... |
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| Keywords: | hypercholesterolemia familial low-density lipoprotein receptor gene mutation Chinese |
| 本文献已被 CNKI 万方数据 PubMed 等数据库收录！ |
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