Morris S, Leung J, Sharp C, Blackwood D, Muir W, St Clair D
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Psychiatr Genet. 1994 Spring;4(1):23-7. doi: 10.1097/00041444-199421000-00004.
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.
据报道，淀粉样前体蛋白（APP）基因第16和17外显子存在数量有限的罕见错义突变。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1例伴有认知缺陷的慢性家族性精神分裂症患者，其密码子713发生了丙氨酸到缬氨酸的突变。我们使用变性梯度凝胶电泳（DGGE）对250名慢性精神分裂症患者进行筛查，以寻找第7、16和17外显子的进一步突变。未发现任何突变。然而，最近的证据表明，713突变确实是所观察到的临床表型的致病因素；文中概述了其中涉及的机制。
