Description:
ALZHEIMER DISEASE; AD
APOLIPOPROTEIN E; APOE
NIA AGING CELL REPOSITORY DNA PANEL - LATE ONSET FAMILIAL ALZHEIMER DISEASE
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Repository
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No Data
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| Subcollection |
Alzheimer's Disease |
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License Required
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No Data
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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| 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 |
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| Gene |
APOE |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 1 |
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. |
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| 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. |
| Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al, Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature376:775-8 1995 |
| PubMed ID: 7651536 |
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| Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME, et al, Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science258:668-71 1992 |
| PubMed ID: 1411576 |
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| Schellenberg GD, Pericak-Vance MA, Wijsman EM, Moore DK, Gaskell PC Jr, Yamaoka LA, Bebout JL, Anderson L, Welsh KA, Clark CM, et al, Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. Am J Hum Genet48:563-83 1991 |
| PubMed ID: 1998342 |
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| Bird TD, Sumi SM, Nemens EJ, Nochlin D, Schellenberg G, Lampe TH, Sadovnick A, Chui H, Miner GW, Tinklenberg J, Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds. Ann Neurol25:12-25 1989 |
| PubMed ID: 2913924 |
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| Bird TD, Lampe TH, Nemens EJ, Miner GW, Sumi SM, Schellenberg GD, Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect. Ann Neurol23:25-31 1988 |
| PubMed ID: 3345066 |
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