摘要
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.
出处
《中国优生与遗传杂志》
2016年第10期13-16,共4页
Chinese Journal of Birth Health & Heredity