摘要
目的探讨散发性Alzheimer病(SAD)与神经型尼古丁乙酰胆碱受体α7亚单位(CHRNA7)基因多态性的关系。方法用聚合酶链式反应温度梯度凝胶电(PCRTGGE)和DNA测序技术分析16例SAD患者及16名正常人CHRNA7基因全部10个外显子及其两侧的部分内含子序列和内含子4的部分基因序列。结果在CHRNA7基因上发现2个新的多态性位点;内含子3区的133418G/C突变,两组相比差异无显著性(χ2=4.571,P>0.05);内含子7上的117643+GTG三碱基插入突变,两组相比差异无显著性(χ2=1.032,P>0.05)。结论在CHRNA7基因上发现的2个新的多态性位点与SAD的发病无显著相关性。
Objective To investigate the correlation between nellronal nicotinic acetylcholine receptor α7 subnnit （CHRNA7） gene polymorphism and sporadic Alzheimer＇s disease （SAD）. Methods CHRNA7 gene was screened by PCR-TGGE in 16 patients with SAD and 16 healthy people as normal control. Genomic DNA including all exons and 4 shot pieces of intron 4 were amplified using PCR and GC-clapped primers. Abnormal bands in TGGE were sequenced. Results Two new polymorphic sites were found in CHRNA7 gene. There was no significant difference of 133418 G/C mutation in intron 3 between the two groups （χ^2= 4.571, P 〉0. 05 ）. Also no significant difference of 3bp insertion mutation （117643 ＋ GTG） was observed in intron 7 between SAD and control groups （ χ^2 = 1. 032, P 〉0. 05 ）. Conclusion Two new polymorphic sites were found in CHRNA7 gene. There were not associated in pathsgenesis of SAD.
出处
《临床神经病学杂志》
CAS
北大核心
2006年第4期241-243,共3页
Journal of Clinical Neurology
基金
国家自然科学基金项目(30450045)
贵州省省长基金(2001003)
贵州省科技厅国际合作项目(200211008)
