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
α-감로당감저적증적분자유전학급기재림상진단여방치방면적의의
Molecular genetics diagnosis of alpha-mannosidosis and its significance in clinical diagnosis and prevention
  • 万方数据
    分子诊断与治疗杂志 분자진단여치료잡지
    JOURNAL OF MOLECULAR DIAGNOSIS AND THERAPY
    2013年 4期 261-267 ,共7页

    吴晓昀%张杰%郭奕斌

    오효윤%장걸%곽혁빈

    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 α-甘露糖苷貯積癥%MAN2B1基因%α-甘露糖苷酶%溶酶體α-D-甘露糖苷酶%分子遺傳學
    α-감로당감저적증%MAN2B1기인%α-감로당감매%용매체α-D-감로당감매%분자유전학
    Alpha-mannosidosis%MAN2B1 gene%Alpha-mannosidase(MAN2B1)%Lysosomal alpha-D-mannosidase(LAMAN)%Molecular genetics
    　　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。
    　　MAN2B1기인돌변도치α-감로당감매결핍혹활성강저시인기α-감로당감저적증적근본내인。대MAN2B1기인、LAMAN매적결구화공능적연구、기인형여표현형적상관성연구이급진방치방면적연구근년래도취득료제다신진전。본문중점위요저궤방면작일종술。
    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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