【摘要】 目的　对ERDA1基因CAG/CTG和SEF2 1基因CTG重复序列数目的遗传性痉挛性截瘫 (HSP)患者及正常人群中的分布和二者在逐代传递中的动态变化进行研究。方法　采用PCR扩增 ,聚丙烯酰胺凝胶电泳 ,GeneS can和Genotype软件分析的方法 ,对 7个有 2～ 3代样本的HSP家系中的 6 2名HSP患者和家系中 10 5名表型正常的患者亲属 ,2 2名散发患者和 31名散发患者的一级亲属 ,以及 116名无血缘关系的正常人检测ERDA1基因CAG/CTG和SEF2 1基因CTG重复序列的数目。结果　ERDA1基因CAG/CTG重复序列的数目在正常人中范围为 9～ 82 (平均2 6 35± 2 0 35 ) ,HSP患者为 9～ 85 (平均 2 8 35± 2 3 4 1) ,患者亲属为 9～ 87(平均 2 6 36± 2 2 0 6 )。SEF2 1基因CTG重复序列的数目在正常人中范围为 2 3～ 4 9(平均 30 90± 6 95 ) ,HSP患者为 2 4～ 5 7(平均 31 17± 7 99) ,患者亲属为 18～ 5 3(平均 30 37± 7 0 2 )。两种三核甘酸重复序列数目在HSP患者与患者亲属之间 ,以及患者与无关正常人群之间比较均无显著性差异。尽管在逐代传递中ERDA1基因CAG/CTG重复序列数目有一定的动态变化 ,但与发病年龄和疾病的严重程度无关。而SEF2 1基因CTG重复序列数目在各代间稳定传递。结论　ERDA1基因CAG/CTG和SEF2 1基因CTG重?更多还原

【Abstract】 Objective To study ERDA1 gene CAG/CTG and SEF2-1 gene CTGtrinucleotide repeated sequence’ distributions between hereditaty spastic paraplegia (HSP) patients and the normal population, and their changes in the successive generations. Methods By PCR and polyacrylamide gel electrophoresis, we examined the ERDA1 gene CAG/CTG and SEF2-1 gene CTG trinucleotide repeated sequence in 62 HSP patients and their 105 relatives with normal phenotype in 7 HSP families, 22 sporadic cases and 31 of their lineal relatives with normal phenotype, and 116 healthy people as normal controls. The resuls were analyzed with the GeneScan, Genotyper software. Results Our date showed that the ERDA1 gene CAG/CTG repeated sequence ranged from 9 to 85 (28.35±23.41) among the HSP patients, 9 to 87 (26.36±22.06) in the normal relatives and 9 to 82 (26.35±20.35) in healthy controls. The SEF2-1 gene CTG repeated sequence ranged from 24 to 57 (31.17±7.99) in the patients, 18 to 53 (30.37±7.02) in their normal relatives, and 23 to 49 (30.90±6.95) in the normal controls. There was no significant either difference between the patients and their relatives with normal phenotype, or between the patients and the normal controls. The analysis of the repeated sequence in each successive generation of the HSP families showed that there was some changes of ERDA1 gene CAG/CTG repeat, though it did not correlate with the age of onset and the severity of the disease. Whereas SEF2-1 gene CTG repeated numbers were stagnant in each generation. Conclusions Our results suggest that the ERDA1 gene CAG/CTG and (SEF2-1) gene CTG repeated sequence did not correlate with the disease.更多还原