Abstract
The genetic locus that harbors mutation(s) responsible for adenomatous polyposis coli (APC) and for Gardner syndrome has been mapped to chromosome 5 by linkage analysis with DNA markers. New markers have been developed for this region of chromosome 5 in order to refine the location of the gene(s) involved, as an important step toward isolation and characterization of the molecular defects responsible for these two diseases. A third type of polyp syndrome linked to the same locus has been observed in a family originally ascertained by Eldon Gardner. The linkage results in this family suggest that allelic heterogeneity at the APC locus may account for some predispositions to colon cancer even when typical polyposis is absent.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Baker SJ, Fearon ER, Nigro JM, Hamilton SR, Preisinger AC, Jessup JM, vanTuinen, P, Ledbetter D, Barker D, Nakamura Y, White R, Vogelstein B (1989) Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science 244:217–21
Bodmer W, Bailey C, Bodmer J, Bussey HJR, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, Sheer D, Solomon E, Spurr NK (1987) Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328:614–16
Burt RW, Samowitz W (1988) The adenomatous polyp and the hereditary polyposis syndromes. Gastro Clin N Amer 17:657–78
Bussey JJR (1975) Familial Polyposis Coli. Family studies, histopathology, differential diagnosis, and results of treatment. Johns Hopkins University Press, Baltimore, MD
Cannon-Albright LA, Skolnick MH, Bishop DT, Lee RG, Burt RW (1988) Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med 319:533–37
Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White R (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305:779–84
Cirullo R, Dana A, Wasmuth J (1983) Efficient procedure for transferring specific human genes into Chinese hamster cell mutants: interspecific transfer of the human genes encoding leucyl-and asparaginyl-tRNA synthetases. Mol Cell Biol 3:892–902
Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA (1986) Brief clinical report: Gardner syndrome in a man with an interstitial deletion of 5q. Amer J Med Genet 25:473–476
Iada M, Yao T, Itoh H (1985) Natural history of fundic gland polyposis in patients with familial adenomatosis coli/Gardner syndrome. Gastroenterology 89: 1021–25
Leppert M, Dobbs M, Scambler P, O’Connell P, Nakamura Y, Stauffer D, Woodward S, Burt R, Hughes J, Gardner E, Lathrop M, Wasmuth J, Lalouel, J-M, White, R (1987) The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 238: 1411–1413
Muto T, Bussey HJR, Morson BC (1975) The evolution of cancer of the colon and rectum. Cancer 36:2251–70.
Nakamura Y, Lathrop M, Leppert M, Dobbs M, Wasmuth J, Wolff E, Carlson M, Fujimoto E, Krapcho K, Sears T, Woodward S, Hughes J, Burt R, Gardner E, Lalouel J-M, White R (1988) Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet 43: 638–44
Vogelstein B, Fearon ER, Hamilton SR, Kern S, Preisinger AC, Leppert M, Nakamura Y, White R, Smits AMM, Bos JL (1988) Genetic alterations during colorectal-tumor development. N Engl J Med 319:525–32.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1990 Springer Japan
About this paper
Cite this paper
Leppert, M. et al. (1990). Eldon Gardner Memorial Lecture: Genetic Mapping and Allelic Heterogeneity of the Familial Polyposis Gene. In: Utsunomiya, J., Lynch, H.T. (eds) Hereditary Colorectal Cancer. Springer, Tokyo. https://doi.org/10.1007/978-4-431-68337-7_3
Download citation
DOI: https://doi.org/10.1007/978-4-431-68337-7_3
Publisher Name: Springer, Tokyo
Print ISBN: 978-4-431-68339-1
Online ISBN: 978-4-431-68337-7
eBook Packages: Springer Book Archive