贵州少数民族遗传性痉挛性截瘫患者spastin基因突变的研究  

Study on spastin gene mutation in Guizhou minorities patients with hereditary spastic paraplegia

作　　者：李小丽[1] 楚兰[2] 徐坚[2] 

机构地区：[1]湖北医药学院附属人民医院神经内科,十堰442000 [2]贵阳医学院附属医院神经内科

出　　处：《临床神经病学杂志》2013年第2期87-89,共3页Journal of Clinical Neurology

摘　　要：目的研究贵州地区少数民族遗传性痉挛性截瘫(HSP)患者spastin基因突变的特征。方法应用PCR产物直接DNA测序法,对贵州16例少数民族(布依、苗、彝族)HSP患者(其中14例患者来自3个常染色体显性遗传家系,2例散发患者)spastin基因的8、10、14号外显子进行分析。将测序结果与人类基因组SPG4基因序列进行比对。结果 16例患者的spastin基因8、10、14号外显子直接DNA测序结果均未发现有突变。结论贵州少数民族HSP患者spastin基因8、10、14号外显子的突变可能较少见,其与汉族HSP患者的spastin基因突变形式可能不同。Objective To study the spastin gene mutation characteristics of Guizhou minorities patients with hereditary spastic paraplegia （HSP）. Methods 8, 10, 14 cxon analysis of spastin gene were carried out by polymerase chain reaction （PCR） combined with DNA direct sequencing in 16 patients （including 14 patients come from 3 autosomal dominant families and 2 cases of sporadic patients） with HSP in Guizhou minorities （ Buyi, Miao, Yi）. Sequencing rusults were compared with SPG4 gene sequence of the human genome. Results 8,10,14 exon of spastin gene mutation was not found by direct DNA sequencing in the 16 patients. Conclusion The abnormal mutations in 8,10,14 exon of spastin gene may be rare in HSP patients in Guizhou minorities, and the mutation forms may be different between Guizhou minorities and Han HSP patients.

关 键 词：少数民族 遗传性痉挛性截瘫 spastin基因 突变 

分 类 号：R741[医药卫生—神经病学与精神病学]