SCREENING FOR THE BETA-AMYLOID PRECURSOR PROTEIN MUTATION (APP717-VAL-]ILE) IN EXTENDED PEDIGREES WITH EARLY ONSET ALZHEIMERS-DISEASE

被引：58

作者：

CHARTIERHARLIN, MC

CRAWFORD, F

HAMANDI, K

MULLAN, M

GOATE, A

HARDY, J

BACKHOVENS, H

MARTIN, JJ

VAN BROECKHOVEN, C

机构：

[1] ST MARYS HOSP, SCH MED, DEPT BIOCHEM, ALZHEIMERS DIS RES GRP, LONDON W2 1PG, ENGLAND

[2] ST MARYS HOSP, SCH MED, DEPT NEUROL, LONDON W2 1PG, ENGLAND

[3] UNIV INSTELLING ANTWERP, BORN BUNGE FDN, NEUROGENET LAB, B-2610 WILRIJK, BELGIUM

[4] UNIV INSTELLING ANTWERP, BORN BUNGE FDN, NEUROPATHOL LAB, B-2610 WILRIJK, BELGIUM

来源：

NEUROSCIENCE LETTERS | 1991年 / 129卷 / 01期

关键词：

ALZHEIMERS DISEASE; CHROMOSOME-21; BETA-AMYLOID PRECURSOR PROTEIN (APP);

D O I：

10.1016/0304-3940(91)90738-F

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Screening for the APP717 mutation in 5 further families with early onset Alzheimer's disease failed to reveal further cases with this variant. Screening a further 100 normal individuals for this mutation also failed to reveal further occurrences of this variant in the general population. Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene (the exons which encode the beta-amyloid fragment) in pedigree FAD4 revealed them to be of normal sequence. The significance of these observations to the genetics of Alzheimer's disease is discussed.

引用

页码：134 / 135

页数：2

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