【摘要】 目的探讨Nicastrin基因转录产物的选择性剪接与阿尔茨海默病的相关性。方法通过使用RT-PCR法分别在病理确诊的10例AD患者与13例非AD对照中检测了海马区Nicastrin基因转录产物的选择性剪接,同时PCR-RFLP法进行apoE基因分型,对比分析Nicastrin基因、apoE基因与AD的相关性。结果我们发现Nicastrin基因上的一个新的选择性剪接转录产物-NCSTN△E16,该转录产物导致其跨膜结构域上游71个氨基酸缺失,在apoEε4携带者伴外显子16缺失阳性组中AD患病率明显增加,但这一相关性没有统计学意义。结论Nicastrin基因转录产物的选择性剪接-NCSTN△E16与AD没有明显相关性。更多还原

【Abstract】 Objective To explore the association of alternatively-spliced transcript of nicastrin gene with Alzheimer disease. Methods Using RT-PCR the alternatively-spliced transcript of nicastrin gene was detected in the hippocampus of 10 pathologically-diagnosed Alzheimer disease and 13 controls. PCR-RFLP (restriction fragment length polymorphism) was performed to determine the genotypes of APOE (apolipoprotein E). The association between nicastrin gene, APOE and AD was analyzed. Results A novel alternatively-spliced transcript of nicastrin-NCSTN-△E16 was identified, which leads to deletion of 71 amino acids just upstream of its trans-membrane domain. In patients with the APOE-ε4 allele, the frequency of AD appeared to be increased in the NCSTN-△E16-positive group, but this association was not statistically significant. Conclusions The novel alternatively-spliced transcript of nicastrin-NCSTN-△E16 is not associated with Alzheimer disease.更多还原