【摘 要】
：
目的：探索中国东部人群肌萎缩侧索硬化患者(ALS)与ATXN2基因CAG重复数的关系.方法：研究对象包括394例ALS患者,其中有15例是家族性ALS患者；900例未罹患神经变性性疾病的健康对照.采集上述研究对象的外周血,并对其进行DNA的抽提.在ATXN2基因的CAG重复序列的两端侧翼序列设计引物,并应用聚合酶链式反应(PCR)对ALS患者及健康对照的CAG重复数进行扩增.应用变性聚丙烯酰胺凝胶
【机 构】
：
复旦大学附属华山医院神经内科;浙江大学金华医院 复旦大学附属华山医院神经内科
【出 处】
：
长三角地区神经科学论坛暨浙江省神经科学学会2014年年会
论文部分内容阅读
目的：探索中国东部人群肌萎缩侧索硬化患者(ALS)与ATXN2基因CAG重复数的关系.方法：研究对象包括394例ALS患者,其中有15例是家族性ALS患者；900例未罹患神经变性性疾病的健康对照.采集上述研究对象的外周血,并对其进行DNA的抽提.在ATXN2基因的CAG重复序列的两端侧翼序列设计引物,并应用聚合酶链式反应(PCR)对ALS患者及健康对照的CAG重复数进行扩增.应用变性聚丙烯酰胺凝胶电泳(PAGE)对PCR产物的CAG重复序列进行检测并对PAGE结果可疑为中间片段(CAG重复数≥24)的病人及健康对照进行直接测序验证.结果：1.在394例ALS患者中发现19例的ATXN2-CAG重复数大于24,健康对照中CAG重复数大于24的有21名,有统计学差异(P=0.017)；其中包括2例FALS患者(P=0.052)和19例SALS患者(P=0.038)；2.在ALS患者中发现有11例的CAG的重复数大于27,而在健康对照中仅有6例,有统计学意义(P=0.002)；其中有1例FALS患者(P=0.110)10例SALS患者(P=0.004)；3.携带ATXN2-CAG重复数超过24或27的ALS患者与未携带该中间片段的患者之间并未发现发病年龄存在统计学差异(P＞0.05),并未发现ATXN2-CAG重复数在男性与女性之间有统计学差异(P＞0.05).结论：1.在中国东部人群中,ATXN2基因的中间片段(CAG重复数大于24或27)与ALS显著相关,ATXN2基因可能在ALS的发病中扮演重要的角色.2.中国东部ALS患者的临床表型同ATXN2基因的中间片段无明显相关性.
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