Description:
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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10
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Relation to Proband
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maternal cousin
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Gene |
APC |
| Chromosomal Location |
5q21-q22 |
| Allelic Variant 1 |
611731.0030; GARDNER SYNDROME |
| Identified Mutation |
2-BP DEL, CODON 1538; In 2 previously reported patients with severe Gardner phenotype [Davies et al., J. Hum. Genet. 57: 1151-1158 (1995)], Armstrong et al. [Hum. Mutat. 10: 376-380 (1997)] found a deletion of AG from codon 1538, converting ACAGAA to ACAA and leading to a premature termination at pro1542. The patients were, however, of completely different ethnic backgrounds and had different haplotypes suggesting that the same mutation had arisen in 2 separate populations. |
| Remarks |
Multiple osteomas, fibromas, & epidermoid cysts; daughter of GM07511B & 07518; culture shows persistence of chromatid damage after x-irradiation; donor subject has a 2 bp deletion at nucleotide 4611 in codon 1537 exon 15 of the APC gene (4611_4612delAG) leading to a premature termination at proline 1542 [Pro1542Ter (P1542X)] |
| Takai S, Price FM, Sanford KK, Tarone RE, Parshad R, Persistence of chromatid damage after G2 phase X-irradiation in lymphoblastoid cells from Gardner's syndrome. Carcinogenesis11:1425-8 1990 |
| PubMed ID: 2387030 |
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| Gardner EJ, Rogers SW, Woodward S, Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum. Cancer49:1413-9 1982 |
| PubMed ID: 7059954 |
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