遗传性痉挛性截瘫相关基因研究进展

Progress on the associated-gene of hereditary spastic paraplegia

目前研究已发现21个遗传性痉挛性截瘫疾病基因相关位点,其中常染色体显性遗传位点有11个,常染色体隐性遗传位点7个,X2连锁隐性遗传位点3个,9个疾病基因已被克隆,分别是atlastin基因、spastin基因、paraplegin基因、神经细胞黏附分子L1基因、蛋白脂蛋白基因、神经膜蛋白基因、动力蛋白重链5A基因、热休克蛋白60基因和maspardin基因突变,此外还有TRAK1基因及其他相关基因.

There are twenty-one gene-associated sites of hereditary spastic paraplegia （HSP） that have been reported, including eleve gene-associated sites of autosomal dominant inheritance, seven gene-associated sites of autosomal recessive and three gene-associated sites of X2 linked recessive. Nine genes of HSP have been cloned as followed, atlastin, spastin, paraplegin, L1CAM, PLP, Hsp60, maspardin, TRAK1 and so on.