【摘 要】
：
目的：探讨可能与中国汉族人群SCA3/MJD患者发病年龄(AO)变异有关的其他基因.方法：收集已发病的SCA3/MJD患者共802例,应用PCR和毛细管电泳检测10个PolyQ相关基因的CAG重复拷贝数(包括ATXN1,ATXN2,ATXN3,CACNA1A,ATXN7,TBP,ATN1,IT15,KCNN3,RAI1),应用协方差分析、多元线性回归分析其他9个基因的CAG重复拷贝数与SCA3/M
【机 构】
：
中南大学湘雅医院神经内科;神经退行性疾病湖南省重点实验室;医学遗传学国家重点实验室 中南大学湘雅医
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目的：探讨可能与中国汉族人群SCA3/MJD患者发病年龄(AO)变异有关的其他基因.方法：收集已发病的SCA3/MJD患者共802例,应用PCR和毛细管电泳检测10个PolyQ相关基因的CAG重复拷贝数(包括ATXN1,ATXN2,ATXN3,CACNA1A,ATXN7,TBP,ATN1,IT15,KCNN3,RAI1),应用协方差分析、多元线性回归分析其他9个基因的CAG重复拷贝数与SCA3/MJD患者AO的相关性.所有数据均使用SPSS 19.0软件分析,P＜0.05有统计学差异.结果：1.SCA3/MJD患者的ATXN3等位基因长链的CAG重复拷贝数可解释患者AO 56.9％的变异；当ATXN3等位基因短链CAG重复拷贝数小于19或在26-40时可解释SCA3/MJD患者AO 1.3％和1.9％的变异. 2.ATXN1等位基因短链CAG重复拷贝数、IT15等位基因两条链CAG重复拷贝数差值、KCNN3等位基因两条链CAG重复拷贝数的差值与ATXN3等位基因长链的交互作用分别可解释SCA3/MJD患者AO 0.4％、0.7％、0.8％的变异,与ATXN1基因交互作用越强时,患者AO越晚,与IT15、KCNN3基因交互作用越强时,患者AO越早.3.ATXN2基因是ATXN3的修饰基因之一,当SCA3/MJD患者的ATXN2基因等位基因长链的CAG重复拷贝数在27-30时,该基因可解释患者AO 23.2％的变异,患者AO下降约2.48岁. 4.当CACNA1A基因的CAG的重复拷贝数为8-15的纯合子时,可解释SCA3/MJD患者AO 4.8％的变异.当ATXN7等位基因短链的CAG重复拷贝数＜10时或长链的CAG重复拷贝数为10-11时,可解释患者AO 2.5％和1.6％的变异,当该基因长链的CAG重复拷贝数为12-17且短链≥10时,可解释患者AO 2.3％的变异.当RAI1等位基因短链的CAG重复拷贝数为12或长链为13-14时,可解释患者AO 0.7％和5.2％的变异,当该基因长链的CAG重复拷贝数13-14且短链＞11时,可解释患者AO 7.3％的变异.结论：在中国汉族人群中ATXN3等位基因长链的CAG重复拷贝数可解释SCA3/MJD患者AO 56.9％的变异；ATXN1、ATXN2、KCNN3、CACNA1A、ATXN7和RAI1基因对SCA3/MJD患者的AO有一定修饰作用.
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