Identification and characterization of the familial adenomatous polyposis coli gene

Joanna Groden, Andrew Thliveris, Wade Samowitz, Mary Carlson, Lawrence Gelbert, Hans Albertsen, Geoff Joslyn, Jeff Stevens, Lisa Spirio, Margaret Robertson, Leslie Sargeant, Karen Krapcho, Erika Wolff, Randall Burt, J. P. Hughes, Janet Warrington, John Douglas Mcpherson, John Wasmuth, Denis Le Paslier, Hadi AbderrahimDaniel Cohen, Mark Leppert, Ray White

Research output: Contribution to journalArticle

2258 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)589-600
Number of pages12
JournalCell
Volume66
Issue number3
DOIs
StatePublished - Aug 9 1991

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., Mcpherson, J. D., Wasmuth, J., Le Paslier, D., ... White, R. (1991). Identification and characterization of the familial adenomatous polyposis coli gene. Cell, 66(3), 589-600. https://doi.org/10.1016/0092-8674(81)90021-0