早发性阿尔茨海默症与TMED10基因的相关性研究

Study on Correlation Between Early-onset Familial Alzheimer's Disease and TMED10 Gene

目的探讨TMED10基因在早发性阿尔茨海默症遗传病因中的作用。方法收集271例早发性阿尔茨海默症患者,对TMED10基因的编码区进行直接测序。结果在患者中发现了4个单核苷酸多态(SNP),分别为:c.338-71G>A,c.338-65—338-64ins4,c.539-73C>G和c.539-28T>C。结论本研究未能发现TMED10基因与早发性阿尔茨海默症有关。

Objective To explore the role of TMED10 gene in the etiology of early-onset familial Alzheimer＇s disease.Methods The study included 271 cases of early-onset familial Alzheimer＇s disease.The coding regions of TMED10 in these patients were directly sequenced.Results Four single nucleotide polymerases（SNP） were found in these patients,they were c.338-71GA,c.338-65-338-64ins4,c.539-73CG and c.539-28TC,respectively.Conclusions We found no evidence of association between TMED10 and early-onset familial Alzheimer＇s disease in the surveyed population.