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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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY
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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 and by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive 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 |
Dental abnormalities, multiple polyposis, multiple osteomas, multiple fibromas, multiple epidermoid cysts, & desmoids; see GM06855 Fibro; 46,XY in lymph cell cult; 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)] |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
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| 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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