A NOVEL MUTATION IN THE BETA-PROTEIN CODING REGION OF THE AMYLOID BETA-PROTEIN PRECURSOR (APP) GENE

被引：0
|
作者：
BALBIN, M
ABRAHAMSON, M
GUSTAFSON, L
NILSSON, K
BRUN, A
GRUBB, A
机构：
[1] UNIV LUND HOSP, DEPT PSYCHOGERIATR, S-22185 LUND, SWEDEN
[2] UNIV LUND HOSP, DEPT PATHOL, S-22185 LUND, SWEDEN
来源：
HUMAN GENETICS | 1992年 / 89卷 / 05期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow population studies of this DNA variation. The mutation, which is silent at the protein level, was present in 2 out of 12 investigated AD patients, in 1 out of 60 non-AD patients and in 1 out of 30 healthy individuals. The mutation can be used as a new marker for linkage studies involving the APP gene, although more comprehensive population studies are required to determine the status of the mutation as a possible risk factor for the development of AD.
引用
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页码：580 / 582
页数：3
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