载脂蛋白E和SHCP66的基因单核苷酸多态性及其与长寿性状的相关研究

研究载脂蛋白E（Apolipoprotein E,APOE)和SHCP66（Src homology-domain cotaining protein,66ku)的基因在一个中国隔离人群中的单核苷酸多态性（single nucleotide polymorphism,SNP),以及它们与长寿性状的相关性,应用多聚酶链式反应结合测序技术对2个基因的外显子区域进行小样本（40个随机个体）的单碱基多态位点（SNP）检测,并对其中apoe的2个侯选位点在大样本中进行基因分型,结果在apoe基因中发现3个SNP位点,其中一个在调控区内的位点是首次报道,shcp66发现3个SNP位点和一个缺失突变,均为首次报告.apoe的2个候选位点在隔离人群中的长寿个体及对照组中基因频率的卡方测验显示无显著差别（P＞5％）,因此,在该长寿人群中,该基因的多态现象与长寿性状无显著的关联。

SNPs in APOE and SHCP66 in an Isolated Chinese Population and the Association of APOE and Longevity

In order to investigate the association between longevity and the polymorphism of genes apoe and schp 66 in one Chinese isolate population, the SNPs in the exons and upstream promoter regions of both genes in 40 unrelated individuals by polymerase chain reaction and sequencing were detected. Three SNPs in apoe were found, including one SNP in promoter region which was first reported.Three SNPs and deletion mutant were detected in shcp 66. Between the control group and longevity individuals(>80 years old) in the isolated population, chi square test showed no significant difference in the gene frequencies of two candidate sites( P >0.05). So a conclusion can be drawn that there is no significant relationship between longevity and the polymorphism of apoe in this longevity population.