早发性阿尔茨海默病由早老素-1基因第219密码子处的新突变引起。
Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.
作者信息
Smith M J, Gardner R J, Knight M A, Forrest S M, Beyreuther K, Storey E, McLean C A, Cotton R G, Cappal R, Masters C L
机构信息
Department of Pathology, The University of Melbourne, Parkville, Vic, Australia.
出版信息
Neuroreport. 1999 Feb 25;10(3):503-7. doi: 10.1097/00001756-199902250-00011.
Mutations in the presenilin 1 (PS1) gene are responsible for approximately 50% of early onset autosomal-dominant Alzheimer's disease cases. A PCR based mutation detection method, chemical cleavage of mismatch, was used to detect a novel PS1 mutation in the coding sequence of the PS1 gene. Sequencing confirmed a T to C transition altering a leucine to proline at codon 219 of the PS1 gene. This is a novel mutation in exon 7 of the PS1 gene occurring outside the transmembrane regions of IV and V.
早老素1（PS1）基因的突变约占早发性常染色体显性阿尔茨海默病病例的50%。一种基于聚合酶链反应（PCR）的突变检测方法——错配化学切割法，被用于检测PS1基因编码序列中的一种新突变。测序证实了PS1基因第219密码子处发生了由T到C的转换，导致亮氨酸变为脯氨酸。这是PS1基因第7外显子上的一种新突变，发生在IV和V跨膜区域之外。
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