Abstract
A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19p13.3. Each of 12 families studied was compatible with linkage to the marker D19S886. We have analysed 20 further families and found that the majority of these are consistent with a PJS gene on 19p13.3. Three families were, however, unlinked to 19p13.3 and none of the available PJS polyps from these families showed allele loss at D19S886. There were no obvious clinicopathological or ethnic differences between the 19p13.3 linked and unlinked families. There appears, therefore, to be a major PJS locus on chromosome 19p13.3 and the possibility exists of a minor locus (or loci) elsewhere.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Hemminki A., Tomlinson I., Markie D., Järvinen H., Sistonen P., Björkqvist A. M., Knuutila S., Salovaara R., Bodmer W., Shibata D. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet. 1997 Jan;15(1):87–90. doi: 10.1038/ng0197-87. [DOI] [PubMed] [Google Scholar]
- Li J., Yen C., Liaw D., Podsypanina K., Bose S., Wang S. I., Puc J., Miliaresis C., Rodgers L., McCombie R. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science. 1997 Mar 28;275(5308):1943–1947. doi: 10.1126/science.275.5308.1943. [DOI] [PubMed] [Google Scholar]
- Liaw D., Marsh D. J., Li J., Dahia P. L., Wang S. I., Zheng Z., Bose S., Call K. M., Tsou H. C., Peacocke M. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997 May;16(1):64–67. doi: 10.1038/ng0597-64. [DOI] [PubMed] [Google Scholar]
- Markie D., Huson S., Maher E., Davies A., Tomlinson I., Bodmer W. F. A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map. Hum Genet. 1996 Aug;98(2):125–128. doi: 10.1007/s004390050173. [DOI] [PubMed] [Google Scholar]
- Spigelman A. D., Arese P., Phillips R. K. Polyposis: the Peutz-Jeghers syndrome. Br J Surg. 1995 Oct;82(10):1311–1314. doi: 10.1002/bjs.1800821006. [DOI] [PubMed] [Google Scholar]
- Tomlinson I. P., Olschwang S., Abelovitch D., Nakamura Y., Bodmer W. F., Thomas G., Markie D. Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease. Ann Hum Genet. 1996 Sep;60(Pt 5):377–384. doi: 10.1111/j.1469-1809.1996.tb00435.x. [DOI] [PubMed] [Google Scholar]