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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 for Spastin gene mutations in hereditary spastic paraplegia and to explore the methods for diagnosing Spastin gene in Guizhou ethnic minorities (Yi, Buyu, Miao). Methods A total of 9 cases of minority HSP patients (including 7 witnesses and 2 sporadic patients) were screened for mutation in exon 1-17 of Spastin gene by PCR-based direct DNA sequencing. Results Exon 8, exon 10 and exon 14 were not screened and mutated in the first stage. Mutations screening of exon 2, 6, 7, 9, 11, 12, 13, 15 and 16 in the second stage were also negative Results: In the third stage, exons 1, 3, 4, 5 and 17 were screened, heterozygous missense mutations were found in exon 4 of Spastin gene, which may be a polymorphism. Conclusion According to the current research status of Spastin gene at home and abroad, it can not be used as a diagnostic strategy for Spastin gene in some ethnic minorities in Guizhou Province.