Pelizaeus-Merzbacher病的分子遗传学研究进展  

Progress in the research of molecular genetics of Pelizaeus-Merzbacher disease

作　　者：曹芳莉[1] 兰风华[1] 

机构地区：[1]南京军区福州总医院临床遗传与实验医学科,福州350025

出　　处：《国际遗传学杂志》2010年第4期221-224,229,共5页International Journal of Genetics

摘　　要：Pelizaeus-Merzbacher病（PMD）是罕见的遗传性脑白质营养不良病，是由于蛋白脂蛋白（poteolipid protein1，PLP1）基因的突变导致髓鞘不能正常形成所致，其中以PLP1基因的重复突变最多见。PLP1基因不同的突变可导致特定的疾病类型，且基因型和表型之间总体上存在对应关系。本文对PMD的分子遗传学特点及近期对该病分子、细胞机制的认识进行综述。Pelizaeus-Merzbacher disease （PMD） is a rare X-linked hereditary cerebral leukodystrophy caused by proteolipid protein 1 （PLP1） gene mutations. PLP1 gene encodes a major protein in CNS myelin. Duplication of the gene is the most frequent cause of PMD. The underlying genetic pathogenesis is distinct for each of the different abnormalities, and each class of PLP1 mutations is associated with a definite phenotypes. This article reviews the genetics of PMD and summarises the current knowledge of causative molecular and cellular mechanisms.

关 键 词：Pelizaeus-Merzbacher病 蛋白脂蛋白1 髓鞘形成障碍 

分 类 号：R742[医药卫生—神经病学与精神病学]