| α-甘露糖苷贮积症的分子遗传学及其在临床诊断与防治方面的意义 |
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| 引用本文： | 吴晓昀,张杰,郭奕斌.α-甘露糖苷贮积症的分子遗传学及其在临床诊断与防治方面的意义[J].分子诊断与治疗杂志,2013,0(4):261-267. |
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| 作者姓名： | 吴晓昀 张杰 郭奕斌 |
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| 作者单位： | 1. 中山大学中山医学院医学遗传学教研室，广东，广州510080
2. 中山大学中山医学院临床专业2009级八年制直博生，广东，广州510080 |
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| 基金项目： | 国家自然科学基金(No.30772069)；闽粤横向课题基金 |
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| 摘 要： | MAN281基因突变导致α-甘露糖苷酶缺乏或活性降低是引起α-甘露糖苷贮积症的根本内因。对MAN2BI基因、LAMAN酶的结构和功能的研究、基因型与表现型的相关性研究以及诊防治方面的研究近年来都取得了诸多新进展。本文重点围绕这几方面作一综述。
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| 关 键 词： | α-甘露糖苷贮积症 MAN281基因 α-甘露糖苷酶 溶酶体α-D-甘露糖苷酶 分子遗 传学 |
Molecular genetics diagnosis of alpha-mannosidosis and its significance in clinical diagnosis and prevention |
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| WU Xiaoyun
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ZHANG Jie
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GUO Yibin.Molecular genetics diagnosis of alpha-mannosidosis and its significance in clinical diagnosis and prevention[J].Journal of Molecular Diagnosis and Therapy,2013,0(4):261-267. |
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| Authors: | WU Xiaoyun ZHANG Jie GUO Yibin |
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| Institution: | I ＊ (1.Department of Medical Genetics, Sun Yat-sen Medical School, Sun Yat-sen University, Guangdong, Guangzhou 510080, China; 2.Clinical Medicine (Eight Year Program), Grade 2009, Zhongshan School of Medicine, Sun Yat-sen University, Guangdong, Guangzhou 510080, China) |
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| Abstract: | The basic cause of alpha-mannosidosis is the deficiency of alpha-mannosidase resulting from the MAN2B1 gene mutation. In resent years, there are plenty of research progress with the study of the structure and function of MAN2B1 gene and LAMAN enzyme, the relationship between the genotype and phenotype, and prevention and treatment. This paper focus on these aspects to make a summary. |
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| Keywords: | Alpha-mannosidosis MAN2B1 gene Alpha-mannosidase(MAN2B1) Lysosomal alpha-D-mannosidase(LAMAN) Molecular genetics |
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