贵州部分少数民族遗传性痉挛性截瘫Spastin基因突变研究  

Spastin gene mutation in part of Guizhou minorities with hereditary spastic paraplegia

作　　者：庄俊鸿[1] 徐坚[2] 李小丽[3] 

机构地区：[1]海口市人民医院神经内科,海南海口570208 [2]贵阳医学院附属医院神经内科,贵州贵阳550004 [3]十堰市人民医院神经内科,湖北十堰442000

出　　处：《中风与神经疾病杂志》2015年第5期434-437,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的筛查及分析遗传性痉挛性截瘫(HSP)Spastin基因突变,了解贵州地区少数民族(彝族、布衣族、苗族)Spastin基因突变特点。方法应用PCR产物直接DNA测序法,对9例HSP患者(包括3个家系中7例现证者和2例散发患者)Spastin基因1-17号外显子进行突变筛查;被发现存在突变的外显子,其次行家系内其他成员相对应外显子的筛查。结果在9例HSP患者中发现家系3两例患者(Ⅴ24、Ⅴ25)的Spastin基因第4号外显子同一位点上发生错义突变c.847C>T,其他参与抽血的亲属均无该位点突变,推测该位点的突变为一多态。另外的突变位点均位于外显子序列前后的内含子区域。结论此次贵州地区部分少数民族spastin基因突变率低,与国内文献报道的汉族人群不同。Objective To screen the mutation and analyze its characteristics of spastin gene in Guizhou minorities （Yi, Buyi, Miao） with hereditary spastic paraplegia. Methods The exons from one to seventeen of spastin gene mutation analysis was were screened by polymerase chain reaction （PCR） combined with DNA direct sequencing in 9 patients with HSP （ including 7 present patients of from three families and two cases of sporadic patients ）. Spastin gene mutation exon that was found in HSP patients was screened in other family members of this family again. Results A missense mutation in the c. 847C 〉 T in the same site of Spastin gene exon four4 in the same site with a missense mutation in the c. 847C 〉 T was found in two patients（ V24、 V25） of the family 3 ,but no mutation at the same site was found in other participating family members of this family;The mutation may be a polymorphism. Other mutations were located in intronic regions. Conclusion Spastin gene mutation rate in part of Guizhou minorities is low and the minority mutation hot spots in our study is different from the Chinese han Nationalities.

关 键 词：遗传性痉挛性截瘫 SPASTIN 基因突变 外显子 

分 类 号：R744[医药卫生—神经病学与精神病学]