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  

Molecular genetics diagnosis of alpha-mannosidosis and its significance in clinical diagnosis and prevention

作　　者：吴晓昀[1] 张杰[2] 郭奕斌[1] 

机构地区：[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

出　　处：《分子诊断与治疗杂志》2013年第4期261-267,共7页Journal of Molecular Diagnostics and Therapy

基　　金：国家自然科学基金(No.30772069);闽粤横向课题基金(No.7101025)

摘　　要：MAN2B1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MAN2B1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。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.

关 键 词：α-甘露糖苷贮积症 MAN2B1基因 α-甘露糖苷酶 溶酶体α-D-甘露糖苷酶 分子遗传学 

分 类 号：R440[医药卫生—诊断学]