初步探索贵州部分少数民族遗传性痉挛性截瘫Spastin基因诊断策略

Preliminarily explore spastin gene diagnostic strategy in part of Guizhou′s minorities with hereditary spastic paraplegia

目的筛查遗传性痉挛性截瘫Spastin基因突变,探索贵州地区少数民族(彝族、布衣族、苗族)Spastin基因诊断方法。方法应用PCR产物直接DNA测序法,分三阶段对9例少数民族HSP患者(包括3个家系中7名现证者和2例散发患者)Spastin基因1-17号外显子进行突变筛查。结果第一阶段首选8、10、14号外显子未筛及突变;第二阶段选择2、6、7、9、11、12、13、15、16号外显子进行突变筛查,也是阴性突变结果;第三阶段筛查1、3、4、5、17号外显子,在Spastin基因第4号外显子发现杂合错义突变,推测可能为一基因多态。结论参照国内外Spastin基因的研究现状,不能作为我们本次研究贵州地区部分少数民族Spastin基因诊断策略。

Objective：To screen the spastin gene mutation and explore its diagnostic strategy of spastin gene in Guizhou,s minorities（Yi,Buyi,Miao）with hereditary spastic paraplegia. Methods：Exons from one to seventeen of spastin gene mutation analysis which were divided into three stages were screened by polymerase chain reaction（PCR）combined with DNA direct sequencing in 9 patients with HSP（including 7 present patients of three families and two cases of sporadic patients）. Resμlts：No mutations were found in exon 8,10,14 in the first phase and exon2,6,7,9,11,12,13,15,16 in the second phase,but spastin gene exon four with a missense mutation which found in the third phase throuth screening exon 1,3,4,5,17 may be a polymorphism.Conclusion：Spastin gene researched at home and abroad can′t be used as gene diagnosis strategy in part of Guizhou′s minorities.