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.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Howe JR,Ringold JC,Summers RW,Mitros FA,Nishimura DY,Stone EMdoi
10.1086/301840subject
Has Abstractpub_date
1998-05-01 00:00:00pages
1129-36issue
5eissn
0002-9297issn
1537-6605pii
S0002-9297(07)61536-5journal_volume
62pub_type
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