论文部分内容阅读
Pelizaeus—Merzbachers病(PMS)是一种罕见的X—连锁陷性遗传病,是由于蛋白脂质蛋白(Proteolipid Protein,PLP)基因突变所致。它以婴儿期发病,存在眼球震颤及慢性进行性的锥体束征、肌张力障碍和小脑征候为特征。尽管PLP基因已克隆并且对全部基因序列已有较为精确的了解,已研究的家系中仅约25％在基因的7号外码子处显示可检测到的突变。这种情况可能是由于特异性突变机制如捻接部位(Splice site)突变引起的,且曾被证实。对于曾经研究过的家系来说,仅一个家系的PLP基因呈现全缺失,而大多数家系则有不同的突变,这也是
Pelizaeus-Merzbachers disease (PMS) is a rare X-linked traumatic disease caused by mutations in the Proteolipid Protein (PLP) gene. It is characterized by infantile onset, nystagmus and chronic progressive pyramidal signs, dystonia and cerebellar signs. Although the PLP gene has been cloned and has a more accurate understanding of the entire gene sequence, only about 25% of the studied families show detectable mutations at codon 7 of the gene. This may be due to specific mutations such as Splice site mutations that have been demonstrated. For the pedigrees that have been studied, only one pedigree has a complete deletion of the PLP gene, while most families have different mutations, which is also