Brindle N, Song Y, Rogaeva E, Premkumar S, Levesque G, Yu G, Ikeda M, Nishimura M, Paterson A, Sorbi S, Duara R, Farrer L, St George-Hyslop P
Centre for Research in Neurodegenerative Diseases, Department of Medicine (Division of Neurology), University of Toronto, Toronto, Ontario, Canada.
Hum Mol Genet. 1998 May;7(5):933-5. doi: 10.1093/hmg/7.5.933.
The K-variant of butyrylcholinesterase (BCHE-K) recently has been reported to be associated with Alzheimer disease (AD) in carriers of the epsilon4 allele of the apolipoprotein E (APOE) gene. We have re-examined the frequency of the BCHE-K allele in a large data set of both sporadic and familial cases of AD disease, and we have also examined the segregation of three genetic markers on chromosome 3 near BCHE . Our data neither support an association of BCHE-K with sporadic or familial AD, nor do they suggest the existence of another gene nearby on chromosome 3 as a common cause of familial AD.
最近有报道称,丁酰胆碱酯酶的K变体(BCHE-K)与载脂蛋白E(APOE)基因ε4等位基因携带者的阿尔茨海默病(AD)有关。我们在一个包含散发性和家族性AD病例的大型数据集中重新检查了BCHE-K等位基因的频率,并且还研究了3号染色体上靠近BCHE的三个遗传标记的分离情况。我们的数据既不支持BCHE-K与散发性或家族性AD相关,也不表明3号染色体上附近存在另一个基因是家族性AD的常见病因。