阿尔茨海默病病人AACT、ERAB和NACP基因的多态性分析

摘要

Objective To analyze the polymorphisms of the AACT,ERAB and NACPgenes in Han Chinese Alzheimer′s disease (AD) patients. Methods Denaturant gradient gel electrophoresis (DGGE) was used to scan all DNA fragments of 3 genes mentioned above in AD group (15 cases) and elderly control group (241 cases). Results A25G and G39A substitutions were found in the AACT gene. The gene frequency of A25G was 80% in the AD group and 47% in the control group (P<0.05). The gene frequency of G39A genotype was 13% in the AD group and 0.4% in the control group (P<0.01). The allele(39) frequencies were also significantly different between the two groups (P<0.01). We did not find any points with polymorphism in the ERAB and NACP genes. Conclusion A25G and G39A substitutions in the AACT gene are probably one of the risk factors to AD in Han Chinese.%目的 探讨中国汉人阿尔茨海默(Alzheimer)病(AD)病人的AACT、NACP和ERAB基因的多态性。方法 应用DNA变性梯度凝胶电泳方法对15例AD和241例老年对照组的上述3个基因的DNA片段进行扫描分析。结果 在AACT基因中发现A25G和G39A两处替换。前者基因型出现频率很高，在AD组中占80%，对照组占47%，差异有显著意义（P<0.05)。后者基因型在AD组中占13%，对照组仅占0.4%，差异有非常显著意义（P<0.01)。39位点的等位基因频度差异也有非常显著意义（P<0.01)。其它两基因未发现有多态性位点。结论 AACT基因的A25G和G39A替换很可能是汉人AD的危险因素之一。