No founder effect in three novel Alzheimer's disease families with APP 717 Val->Ile mutation

被引：16

作者：

Campion, D

Brice, A

Hannequin, D

Charbonnier, F

Dubois, B

Martin, C

Michon, A

Penet, C

Bellis, M

Calenda, A

Martinez, M

Agid, Y

ClergetDarpoux, F

Frebourg, T

机构：

[1] CHU ROUEN,GENET MOL LAB,F-76031 ROUEN,FRANCE

[2] UNIV ROUEN,CHSR,DEPT RECH,F-76300 SOTTEVILLE ROUEN,FRANCE

[3] INSERM U289,F-75013 PARIS,FRANCE

[4] CHU ROUEN,NEUROL CLIN,F-76031 ROUEN,FRANCE

[5] INST BIOL,CNRS UPR 8402,F-34060 MONTPELLIER,FRANCE

[6] INSERM U155,F-75016 PARIS,FRANCE

[7] HOP ST LOUIS,INSERM U358,F-75010 PARIS,FRANCE

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 08期

关键词：

Alzheimer's disease; amyloid precursor protein; apolipoprotein E; founder effect;

D O I：

10.1136/jmg.33.8.661

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

We sequenced exons 16 and 17 of the APP (amyloid precursor protein) gene in 18 unrelated French Alzheimer's disease (AD) patients. These patients had an onset before the age of 60 and belonged to families with autosomal dominant transmission of the disease. We detected the APP 717 Val-->Ile mutation in three out of 18 (16.6%) families. In these three families, all affected subjects had the APOE 3/3 genotype, but their ages of onset ranged from 38 to 60 years, indicating that factors other than the APOE genotype influence age of onset. Analysis of two polymorphic loci adjacent to the APP gene showed that at least two independent mutational events had occurred within these pedigrees, in spite of their origin in the same region of France.

引用

页码：661 / 664

页数：4

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