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目的探讨遗传性痉挛性截瘫(HSP)spastin、atlastin和parap legin基因的突变特点。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24个常染色体显性遗传HSP家系和14例散发患者进行spastin基因和atlastin基因突变分析;对12个常染色体隐性遗传HSP家系和14例散发患者进行parap legin基因突变分析。结果在5个不同的常染色体显性遗传HSP家系中发现4个spastin基因新突变(1223 insCTCA、1258T→A,1293A→G和1668delCTA),在2例散发患者中发现2个spastin基因多态(IVS1-31C→G和IVS2-47A→G);在常染色体显性遗传HSP家系和散发患者中未发现atlastin基因突变或多态;在常染色体隐性遗传HSP家系和散发患者中未发现致病突变,仅在2例散发患者中发现2个parap legin基因多态(2063G→A及2066G→A)。结论我国遗传性痉挛性截瘫患者中spastin基因突变较常见,atlastin和parap legin基因的突变率可能较低。
Objective To investigate the gene mutation characteristics of spastin, atlastin and parap legin in hereditary spastic paraplegia (HSP). Methods The mutations of spastin gene and atlastin gene in 24 autosomal dominant HSP families and 14 sporadic cases were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequence analysis. An autosomal recessive HSP pedigree and 14 sporadic patients were analyzed for parap legin gene mutations. Results Four novel spastin gene mutations (1223 insCTCA, 1258T → A, 1293A → G and 1668delCTA) were found in five different autosomal dominant inherited HSP families. Two spastin gene polymorphisms IVS1-31C → G and IVS2-47A → G); no mutations or polymorphisms in the atlastin gene were found in autosomal dominant hereditary HSP families and sporadic patients; no pathology was found in autosomal recessive HSP families and sporadic patients Two parap legin gene polymorphisms (2063G → A and 2066G → A) were found in only 2 cases of sporadic cases. Conclusion The mutations of spastin gene are common in Chinese patients with hereditary spastic paraplegia and the mutation rates of atlastin and parap legin genes may be low.