Skip to main content
Log in

Evaluation of polymorphic genetic markers for linkage to the familial adenomatous polyposis locus on chromosome 5

  • Original Contributions
  • Published:
Diseases of the Colon & Rectum

Abstract

A gene associated with the inherited syndrome, familial adenomatous polyposis (FAP), has been localized to the long arm of chromosome 5 near the 5q21-22 region, and markers that identify genetic polymorphisms near this locus are now available. The authors evaluated several of these markers for linkage to the FAP trait in 11 families entered in the Cleveland Clinic Polyposis Registry. The original probe that established linkage to the FAP locus (C11p11) has limited utility for family studies because of low heterozygosity and distance from the FAP gene. Other probes, however, should be useful for assessing FAP inheritance by restriction fragment length polymorphism analysis, for presymptomatic diagnosis of the disease.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Bodmer WF, Bailey CJ, Bodmer J, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987;328:614–6.

    PubMed  Google Scholar 

  2. Solomon E, Voss R, Hall V, et al. Chromosome 5 allele loss in human colorectal carcinomas. Nature 1987;328:616–9.

    PubMed  Google Scholar 

  3. Leppert M, Dobbs M, Scambler P, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 1987;238:1411–3.

    PubMed  Google Scholar 

  4. Khan PM, Tops CM, Broek Mvd, et al. Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-22. Hum Genet 1988;79:183–5.

    PubMed  Google Scholar 

  5. Berger SL, Kimmel AR, eds. Guide to molecular cloning: methods in enzymology. New York: Academic Press, 1987: vol. 152.

    Google Scholar 

  6. Ausubel FM, Brent R, Kingston RE, eds. Current protocols in molecular biology. New York: John Wiley & Sons, 1987.

    Google Scholar 

  7. Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6–13. Addendum: Anal Biochem 1984;137:266–7.

    PubMed  Google Scholar 

  8. Ott J. Analysis of human genetic linkage. Baltimore: The Johns Hopkins University Press, 1985.

    Google Scholar 

  9. Lathrop GM, Lalouel J-M, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci 1984;81:3443–6.

    PubMed  Google Scholar 

  10. Lathrop GM, Lalouel J-M, Julier C, Ott J. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482–98.

    PubMed  Google Scholar 

  11. Nakamura Y, Leppert M, O'Connell P, et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 1987;235:1616–22.

    PubMed  Google Scholar 

  12. Nakamura Y, Lathrop M, Leppert M, et al. Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet 1988;43:638–44.

    PubMed  Google Scholar 

  13. Burt RW, Bishop DT, Cannon LA, Dowdle MA, Lee RG, Skolnick MH. Dominant inheritance of adenomatous colonic polyps and colorectal cancer. N Engl J Med 1985;312:1540–4.

    PubMed  Google Scholar 

  14. Law DJ, Olschwang S, Monpezat J-P, et al. Concerted nonsyntenic allelic loss in human colorectal carcinoma. Science 1988;241:961–5.

    PubMed  Google Scholar 

  15. Cannon-Albright LA, Skolnick MH, Bishop DT, Lee RG, Burt RW. Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med 1988;319:533–7.

    PubMed  Google Scholar 

  16. Vogelstein B, Fearon ER, Hamilton SR, et al. Genetic alterations during colorectal tumor development. N Engl J Med 1988;319:525–2.

    PubMed  Google Scholar 

  17. Okamoto M, Sasaki M, Sugio K, et al. Loss of constitutional heterozygosity in colon carcinoma from patients with familial polyposis coli. Nature 1988;331:273–7.

    PubMed  Google Scholar 

  18. Vogelstein B, Fearon ER, Kern SE, et al. Allelotype of colorectal carcinomas. Science 1989;244:207–11.

    PubMed  Google Scholar 

  19. Jagelman DG. Familial polyposis coli. Surg Clin North Am 1983;63:117–28.

    PubMed  Google Scholar 

  20. Alfred MA, Rees M, Tsioupra K, Leigh SE, Neale KF, Delhanty JD. Familial polyposis coli (letter). Lancet: Sept.3, 1988:565.

Download references

Author information

Authors and Affiliations

Authors

Additional information

Read in part at the meeting of The American Society of Colon and Rectal Surgeons, Toronto, Canada, June 11 to 16, 1989.

Supported in part by grants from the American Cancer Society, Cuyahoga County Unit, and the American Society of Colon and Rectal Surgeons Research Foundation.

About this article

Cite this article

Paul, P., Jagelman, D.G., Fazio, V.W. et al. Evaluation of polymorphic genetic markers for linkage to the familial adenomatous polyposis locus on chromosome 5. Dis Colon Rectum 33, 740–744 (1990). https://doi.org/10.1007/BF02052318

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02052318

Key words

Navigation