遗传性痉挛性截瘫atlastin基因突变分析

Mutation analysis of atlastin gene in patients with hereditary spastic paraplegia

目的探讨中国人遗传性痉挛性截瘫(HSP)atlastin基因的突变特点,为HSP的基因诊断奠定基础。方法应用聚合酶链反应-单链构象多态性(PCR-SSCP)结合DNA序列分析方法,对来自全国20例常染色体显性遗传HSP家系的先证者和10例散发性HSP患者进行了atlastin基因突变分析。结果在20例常染色体显性遗传HSP家系的先证者和10例散发性HSP患者中均未发现异常SSCP条带,第7号外显子直接DNA序列分析亦无异常。结论atlastin基因突变可能在中国人HSP患者中少见。

Objective To investigate the mutation characteristics of atlastin gene in Chinese patients with hereditary spastic paraplegia （HSP） and establish the base of gene diagnosis of HSP. Methods Mutation analysis of atlastin gene was made by use of polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） combined with DNA direct sequencing in 30 unrelated affected HSP individuals in China in which 20 cases were from autosomal dominant families and ten cases were sporadic HSP patients. Results No abnormal SSCP bands were found in the 30 individuals and the results of DNA direct sequencing were also normal. Conclusion Mutation of atlastin gene may be rare in Chinese HSP patients.