Description:
MAJOR AFFECTIVE DISORDER; OLD ORDER AMISH - 125480 OR 309200
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Old Order Amish Major Affective Disorder
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
AMISH
|
|
Family Member
|
14
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Remarks |
Clinically unaffected; see GM05928 Fibroblast; spouse of GM05927 |
| Huff MO, Li XP, Ginns E, El-Mallakh RS, Effect of ethacrynic acid on the sodium- and potassium-activated adenosine triphosphatase activity and expression in Old Order Amish bipolar individuals Journal of affective disorders123:303-7 2009 |
| PubMed ID: 19880188 |
| |
| Liao D, Weiner AM, Concerted evolution of the tandemly repeated genes encoding primate U2 small nuclear RNA (the RNU2 locus) does not prevent rapid diversification of the (CT)n.(GA)n microsatellite embedded within the U2 repeat unit. Genomics30(3):583-593 1995 |
| PubMed ID: 8825646 |
| |
| Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G, et al, Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish [see comments] Nature342:238-43 1989 |
| PubMed ID: 2682265 |
| |
| Egeland JA, Gerhard DS, Pauls DL, Sussex JN, Kidd KK, Allen CR, Hostetter AM, Housman DE, Bipolar affective disorders linked to DNA markers on chromosome 11. Nature325:783-7 1987 |
| PubMed ID: 2881209 |
|
|