A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

James R Howe; John C Ringold; Robert W Summers; Frank A Mitros; D.Y Nishimura; Edwin M Stone

doi:10.1086/301840

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A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

Journal article

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Peer reviewed

A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

James R Howe, John C Ringold, Robert W Summers, Frank A Mitros, D.Y Nishimura and Edwin M Stone

The American Journal of Human Genetics, Vol.62(5), pp.1129-1136

1998

DOI: 10.1086/301840

PMCID: PMC1377097

PMID: 9545410

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Abstract

Familial juvenile polyposis (FJP) is a hamartomatouspolyposis syndrome in which affected family members develop upper and lower gastrointestinal juvenile polyps and are at increased risk for gastrointestinal cancer. A genetic locus for FJP has not yet been identified by linkage; therefore, the objective of this study was to perform a focused genome screen in a large family segregating FJP. No evidence for linkage was found with markers near MSH2, MLH1, MCC, APC, HMPS, CDKN2A, JP1, PTEN, KRAS2, TP53, or LKB1. Linkage to FJP was established with several markers from chromosome 18q21.1. The maximum LOD score was 5.00, with marker D18S1099 (recombination fraction of .001). Analysis of critical recombinants places the FJP gene in an 11.9-cM interval bounded by D18S1118 and D18S487, a region that also contains the tumor-suppressor genes DCC and DPC4. These data demonstrate localization of a gene for FJP to chromosome 18q21.1 by linkage, and they raise the possibility that either DCC or DPC4 could be responsible for FJP.

Juvenile

Colorectal

Linkage

Gastrointestinal

Polyposis

Cancer

Details

Title: Subtitle: A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1
Creators: James R Howe - Department of Surgery, University of Iowa College of Medicine, Iowa City
John C Ringold - Department of Surgery, University of Iowa College of Medicine, Iowa City
Robert W Summers - Department of Medicine, University of Iowa College of Medicine, Iowa City
Frank A Mitros - Department of Pathology, University of Iowa College of Medicine, Iowa City
D.Y Nishimura - Department of Pediatrics, University of Iowa College of Medicine, Iowa City
Edwin M Stone - Department of Ophthalmology, University of Iowa College of Medicine, Iowa City
Resource Type: Journal article
Publication Details: The American Journal of Human Genetics, Vol.62(5), pp.1129-1136
DOI: 10.1086/301840
PMID: 9545410
PMCID: PMC1377097
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: Elsevier Inc
Language: English
Date published: 1998
Academic Unit: Pathology; Iowa Neuroscience Institute; Surgery; Ophthalmology and Visual Sciences
Record Identifier: 9983979976302771

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