遗传性痉挛性截瘫患者ERDA1和SEF2-1基因三核苷酸重复序列的研究  

ERDA1 gene and SEF2-1 gene nucleotide repeated sequence in patients with hereditary spastic paraplegia.

作　　者：郭辉[1] 拉布[2] 耿德勤[3] 刘焯霖[4] 李洵桦[4] 王学峰[5] 徐评议[4] 张成[4] 陈素琴[1] 徐兴顺[3] 王一鸣[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广州510080 [2]西藏自治区第二人民医院妇产科 [3]徐州医学院附属医院神经科 [4]中山大学附属第一医院神经内科 [5]重庆医科大学附属第一医院神经科

出　　处：《中国神经精神疾病杂志》2004年第4期244-247,共4页Chinese Journal of Nervous and Mental Diseases

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?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.

关 键 词：遗传性痉挛性截瘫 三核甘酸序列 相关关系 

分 类 号：R744[医药卫生—神经病学与精神病学]