中国汉族人群PTK2B基因rs28834970位点单核苷酸多态性与阿尔茨海默病的相关性

Correlation between the polymorphism of PTK2B gene rs28834970 SNPs and Alzheimer Disease in Chinese Han population

目的分析PTK2B基因rs28834970位点单核苷酸多态性（SNP）与阿尔茨海默病（AD）的相关性。方法选取65岁以上汉族人群的172例AD患者及172名健康对照，采用聚合酶链式反应和DNA测序技术检测PTK2B基因rs28834970位点SNP。结果PTK2B基因rs28834970位点存在3种基因型：C／C、C／T及T／T，在AD组及对照组中3种基因型频率分布及等位基因频率分布差异均无统计学意义（P〉0．05）。结论本研究尚未证实中国汉族人群中PTK2Brs28834970位点多态性与AD患病的关系，需进一步研究该基因在AD中的作用，并探究PTK2B基因多态性是否存在种族特异性。

Objective To investigate the correlation between the polymorphism of PTK2B gene rs28834970 SNPs and Alzheimer disease （AD） in Chinese Han population. Methods A total of 172 AD patients over 65 and 172 healthy elderly controls were selected. The genetic variants in PTK2B （rs28834970） were analyzed by Polymerase Chain Reaction and DNA sequencing. Results There were three kinds of genotypes in PTK2B gene rs28834970 （C/C, C/T and T/T）. However, there was no significant difference in the frequency distribution and allele [rcquencies of 3 genotypes between the AD group and the control group （P 〉 0.05）. Conclusions PTK2B （rs28834970） hasn＇t been proved to be associated with AD in Chinese Han population. Further study is needed to investigate the role of PTK2B gene in the pathogenesis of AD and to explore whether there is a racial specificity of PTK2B gene poly- morphism.