Sample Detail

Not Found

Description:

ALZHEIMER DISEASE; AD
APOLIPOPROTEIN E; APOE
NIA AGING CELL REPOSITORY DNA PANEL - LATE ONSET FAMILIAL ALZHEIMER DISEASE

Affected:

No Data

Gender

No Data

Age:

Overview

Repository

No Data

Subcollection

Alzheimer's Disease

License Required

No Data

Sample Source

No Data

Subject Type

No Data

Family Type

No Data

Ethnicity

No Data

Family Member

No Data

Genetic Data

No Data

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis

Gene

APOE

Chromosomal Location

19q13.2

Allelic Variant 1

107741.0015; APOE3 ISOFORM

Identified Mutation

CYS112 AND ARG158; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)] and Rall et al. [Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)] identified one of the 3 major apolipoprotein E isoforms, apolipoprotein E3. The variant has Cys112 and Arg158. This is the most common variant, with frequencies of 40% to 90% in various populations.

Gene

APOE

Chromosomal Location

19q13.2

Allelic Variant 2

107741.0016; APOE4 ISOFORM

Identified Mutation

CYS112ARG; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)], Das et al. [J. Biol. Chem. 260: 6240-6247 (1985)] and Paik et al. [Proc. Nat. Acad. Sci. 82: 3445-3449 (1985)] identified the apolipoprotein E4 isoform in which there is a Cys112-to-Arg substitution. This variant is found in 6% to 37% of individuals from different populations.

Phenotypic Data

No data is available

Publications

Schellenberg GD, Anderson L, O'dahl S, Wisjman EM, Sadovnick AD, Ball MJ, Larson EB, Kukull WA, Martin GM, Roses AD, et al, APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease [see comments] Am J Hum Genet49:511-7 1991

PubMed ID: 1679288