中国北方老年人和散发型阿尔茨海默病患者胆固醇酯转运蛋白基因L296Q突变的缺失

Lake of L296Q mutation in cholesteryl ester transfer protein (CETP) gene in elders and Alzheimer’s disease of Northern Chinese

目的探讨胆固醇酯转运蛋白(CETP)基因的一个新发多态位点——L296Q与散发型阿尔茨海默病(SAD)易感性的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)、变性高效液相色谱(DHPLC)和测序等方法检测107例SAD患者和115名健康老年人L296Q基因多态性。结果无论是哪种方法均未发现SAD组和对照组存在Q等位基因或LQ和QQ基因型。结论在研究人群中未发现此多态位点,可能与研究人群间的种族、年龄差异或技术问题有关。

Objective To investigate the association between CETP（L296Q） polymorphism and sporadic AD （SAD） in Northern Han-Chinese.Methods L296Q genotype was determined in 107 cases and 115 age and gender-matched controls by three methods such as polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）,denaturing high performance liquid chromatography （DHPLC） and DNA sequencing.Results None of the AD and healthy subjects was carriers for this variant.Conclusions This difference from a previous study may be due to the differences in age and race,or a technical problem.