Identification and characterization of the familial adenomatous polyposis coli gene
| Autor: | Joanna Groden, Lawrence Gelbert, M. Carlson, Andrew Thliveris, Geoff Joslyn, Wade S. Samowitz, Lisa Spirio, Margaret Robertson, Hadi Abderrahim, Daniel Cohen, Denis Le Paslier, Mark Leppert, Ray White, John Douglas Mcpherson, Janet A. Warrington, John J. Wasmuth, E. Wolff, Jeff Stevens, Hans Albertsen, Leslie Sargeant, John P. Hughes, Karen Krapcho, Randall W. Burt |
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| Přispěvatelé: | Centre d'Etude du Polymorphisme Humain (CEPH), Fondation Jean Dausset-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7) |
| Rok vydání: | 1991 |
| Předmět: |
Adenomatous polyposis coli
[SDV]Life Sciences [q-bio] Molecular Sequence Data Restriction Mapping Oligonucleotides medicine.disease_cause Polymerase Chain Reaction General Biochemistry Genetics and Molecular Biology Familial adenomatous polyposis 03 medical and health sciences Exon 0302 clinical medicine medicine Humans Amino Acid Sequence Gene ComputingMilieux_MISCELLANEOUS 030304 developmental biology Genetics [SDV.GEN]Life Sciences [q-bio]/Genetics 0303 health sciences Mutation Polymorphism Genetic Base Sequence biology Nucleic acid sequence DNA Exons medicine.disease Molecular biology Stop codon Pedigree 3. Good health Adenomatous Polyposis Coli Genes Attenuated familial adenomatous polyposis 030220 oncology & carcinogenesis biology.protein Chromosome Deletion |
| Zdroj: | Cell Cell, Elsevier, 1991, 66 (3), pp.589-600. ⟨10.1016/0092-8674(81)90021-0⟩ |
| ISSN: | 0092-8674 1097-4172 |
| DOI: | 10.1016/0092-8674(81)90021-0 |
| Popis: | DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and DP2.5) located within a 100 kb region deleted in two of the patients. The intron-exon boundary sequences were defined for each of these genes, and single-strand conformation polymorphism analysis of exons from DP2.5 identified four mutations specific to APC patients. Each of two aberrant alleles contained a base substitution changing an amino acid to a stop codon in the predicted peptide; the other mutations were small deletions leading to frameshifts. Analysis of DNA from parents of one of these patients showed that his 2 bp deletion is a new mutation; furthermore, the mutation was transmitted to two of his children. These data have established that DP2.5 is the APC gene. |
| Databáze: | OpenAIRE |
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