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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?
OBJECTIVE: To investigate the distribution of the CTG repeats of CAG / CTG and SEF2 1 gene in patients with hereditary spastic paraplegia (HSP) and their normal population, and the dynamic changes of the two in the passage-by-passage transmission. Methods PCR amplification, polyacrylamide gel electrophoresis, GeneScan and Genotype software were used to analyze the expression of 105 normal phenotypes in 62 HSP patients and their pedigrees in seven HSP families with 2-3 generations of samples The relatives of patients, 22 sentinel patients and 31 first degree relatives distributed in patients, and 116 unrelated normals were tested for the number of CTG repeats of the CAG / CTG and SEF2 1 genes in the ERDA1 gene. Results The number of CAG / CTG repeat sequences in ERDA1 gene ranged from 9 to 82 (mean 2 6 35 ± 2 0 35) in normal subjects and from 9 to 85 in HSP patients (mean 2 8 35 ± 2 3 4 1). The relatives Ranged from 9 to 87 (an average of 2 366 ± 2 20 6). The number of CTG repeat of SEF2 1 gene ranged from 23 to 49 (average 30 90 ± 6 95) in normal subjects, 24 to 57 in HSP patients (average 31 17 ± 7 99) 5 3 (average 30 37 ± 7 0 2). There was no significant difference in the number of two trinucleotide repeat sequences between HSP patients and their relatives, as well as between patients and unrelated normal subjects. Although there is some dynamic change in the number of CAG / CTG repeats of ERDA1 gene in the passage-by-generation, it is not related to the age of onset and the severity of the disease. While the number of CTG repeats of SEF2 1 gene was stably transmitted between generations. Conclusion The CTG of ERDA1 gene CAG / CTG and SEF2 1 gene are heavy