摘要
目的明确胆固醇酯转运蛋白(CEPT)基因在中国人种有影响CEPT活性、血清HDL水平的3个单核苷酸多态(SNP,rs708272、rs5882、rs2303790)与中国东北地区人群散发性阿尔茨海默病(sporadic alzheimer's disease,SAD)发病的关系。方法 184例来自中国东北地区无AD家族史的AD患者组成SAD组,205名性别、年龄匹配的健康老年人组成对照组。PCR扩增包含前述位点的基因片段,应用基因测序方法检测这些SNP,并分析两组间分布的差别。结果 SAD组的rs2303790G碱基及AG基因型频率低于对照组(二者P=0.015及P=0.001);用ApoEε4分层后,发现有ApoEε4的SAD组rs2303790G碱基、AG基因型频率低于对照组。而无ApoEε4的分组中,rs2303790G碱基、AG基因型频率在两组间无差异。结论 rs2303790G碱基、AG基因型可能在SAD的发病中具有保护作用,这种保护作用只在拥有ApoEε4等位基因的人群中存在。
Objective To investigate the relationship of the CEPT gene single neucleotide polymorphism （SNP） （rs708272, rs5882, rs2303790） with onset of sporadic Alzheimer＇s disease （AD） in Northeast China population. Methods One hundred and eighty-four AD patients with no positive AD familial history in North China formed SAD group, 205 healthy senior people matched in age and gender formed control group. PCR and gene sequencing was performed to detect these SNPs, therefore analysis was processed. Results rs2303790G alle and AG genotype in SAD group was lower than those of the control group （P=O.O15, P=0.O01, respectively）. After divided by ApoE＆, found the people with ApoEs4 SAD rs2303790 G bases, group AG genotype got lower than those of the control group, while people without ApoEe4 rs2303790G bases, AG genotype frequency was no difference between the two groups. Conclusion rs2303790G alle and AG genotype may proba- bly play a potent role in SAD onset, and this is restricted to only people with ApoEe4.
出处
《中国当代医药》
2012年第18期5-7,10,共4页
China Modern Medicine
