Screening schizophrenic patients for mutations in the amyloid precursor protein gene.
Screening schizophrenic patients for mutations in the amyloid precursor protein gene.
复制标题
筛查精神分裂症患者淀粉样前体蛋白基因的突变。
DOI：
10.1097/00041444-199421000-00004
复制
发表时间：
1994
影响因子：
0.9
通讯作者：
D. St. Clair
中科院分区：
文献类型：
--
作者：
S. Morris;J. Leung;C. Sharp;D. Blackwood;W. Muir;D. St. Clair
淀粉样前体蛋白（APP）基因外显子16和17中的少数罕见错义突变已被报道。它们与多种表型相关，包括脑出血、多发性梗死性痴呆和阿尔茨海默病。我们最近报道了一例慢性家族性精神分裂症伴认知功能障碍的患者，其密码子713位发生丙氨酸-缬氨酸突变。使用变性梯度凝胶电泳（DGGE），我们筛选了一个队列的250慢性精神分裂症外显子7，16和17的进一步突变。然而，最近的证据表明，713突变确实是致病的临床表型观察，所涉及的机制进行了概述。
A limited number of rare missense mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene have been reported. They are associated with a variety of phenotypes including cerebral haemorrhage, multi-infarct dementia and Alzheimer's disease. We recently reported an alanine to valine mutation in codon 713 in a single case of chronic familial schizophrenia with cognitive deficits. Using denaturing gradient gel electrophoresis (DGGE) we have screened a cohort of 250 chronic schizophrenics for further mutations of exons 7, 16 and 17. None were found. Nevertheless recent evidence suggests that the 713 mutation is indeed pathogenic for the clinical phenotype observed; the mechanisms involved are outlined.