阿尔茨海默病患者神经型尼古丁受体α7亚单位基因多态性:发现一个新的GTG三碱基插入突变

Subunit gene polymorphisms of neural nicotinic receptor alpha 7 in patients with Alzheimer disease: A new GTG tribasic insertion mutation

目的:探讨阿尔茨海默病患者神经型尼古丁受体α7亚单位基因多态性情况。方法:选择2001-01-01/2002-12-03贵阳医学院附属医院及贵阳中医学院附属医院住院的贵州籍汉族阿尔茨海默病患者12例。年龄62～81岁,平均(70.0±21.9)岁,其中男9例,女3例,病程均超过1年。用聚合酶链式反应-温度梯度凝胶电泳分析阿尔茨海默病患者神经型尼古丁受体α7亚单位基因全部10个外显子及其两侧的部分内含子DNA片段,电泳条带异常者进行DNA序列分析,借以了解贵州汉族阿尔茨海默病患者的神经型尼古丁受体α7亚单位基因多态性情况。结果:12例阿尔茨海默病患者中,含外显子7和部分内含子7序列的DNA片段温度梯度凝胶电泳结果均出现两条带,在神经型尼古丁受体α7亚单位基因上发现1个新的突变位点,即在外显子7附近的内含子7上的117643+GTG三碱基插入突变。结论:在贵州汉族阿尔茨海默病患者的神经型尼古丁受体α7亚单位基因上发现一个新的多态性位点,与阿尔茨海默病的发生是否有关联尚需进一步的研究。

AIM：To explore subunit gene polymorphisms of neural nicotinic receptor alpha 7 in patients with Ahheimer disease. METHODS：Twelve patients with Alzheimer disease,Guizhou Han nationality, who were treated at the Affiliated Hospital of Guiyang Medical University or Affiliated Hospital of Guiyang Hospital of Traditional Chinese Medicine from January 2001 to December 2002, were selected, aged from 62 to 81, averagely （70±21.9） years, including 9 males and 3 females, and the progress was all over one year. The whole 10 exons of subunit gene of neural nicotinic receptor alpha 7 and DNA section of part of intervening sequence at the two sides in patients with Alzheimer disease were analyzed with polymerase chain reaction-temperature gradient gel electrophoresis. The DNA rank analysis was performed in the patients with abnormal electrophoresis strap, in order to know the subunit gene polymorphisms of neural nicotinic receptor alpha 7 in Guizhou Han nationality patients with Ahheimer disease. RESULTS： The temperature gradient gel electrophoresis on DNA section including exon 7 and part of intron 7 rank showed two straps in 12 patients with Ahheimer disease.A new mutation was detected in the subunit gene of neural nicotinic receptor alpha 7, i.e.,117643＋GTG tribasic insertion mutation in intron 7 around exon 7. CONCLUSION： A new polymorphism in subunit gene of neural nicotinic receptor alpha 7 in Han nationality patients with Ahheimer disease in Guizhou is found,hut further research is needed on association between the polymorphism and Ahheimer disease.