Genetic linkage map of six polymorphic DNA markers around the gene for familial adenomatous polyposis on chromosome 5
- PMID: 1978564
- PMCID: PMC1683900
Genetic linkage map of six polymorphic DNA markers around the gene for familial adenomatous polyposis on chromosome 5
Abstract
A genetic linkage map of six polymorphic DNA markers close to the gene (APC) for familial adenomatous polyposis (FAP) on chromosome 5q is reported. One hundred fifty-five typed members of nine FAP kindred provided more than 90 meioses for linkage analysis. A number of crucial recombination events have been identified which are informative at three or more loci, allowing confident ordering of parts of the map. There was no evidence of genetic heterogeneity, with all families showing linkage of at least one chromosome 5 marker to the gene. Recombination data and two-point linkage analysis support a locus order of centromere-pi 227-C11P11-ECB27-L5.62-APC-EF5.44-YN5.48-telomer e, although EF5.44 could lie in the interval L5.62-APC or ECB27-L5.62. No recombinants were identified between APC and either EF5.44 or YN5.48, but published deletion mapping in colorectal carcinomas and linkage analysis in FAP suggest that YN5.48 is 1-3 cM from APC. The present study suggests that YN5.48 and L5.62 delineate a small region of chromosome 5 within which the EF5.44 locus lies very close to the APC gene. These data not only allow use of flanking markers for presymptomatic diagnosis of FAP but also provide a high-density map of the region for isolation of the APC gene itself and for further assessment of the role of chromosome 5 deletions in the biology of sporadic colorectal cancer.
Similar articles
-
Linkage studies in Italian families with familial adenomatous polyposis.Hum Genet. 1993 Jan;90(5):545-50. doi: 10.1007/BF00217456. Hum Genet. 1993. PMID: 8094067
-
Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers.Lancet. 1989 Dec 9;2(8676):1361-3. doi: 10.1016/s0140-6736(89)91968-5. Lancet. 1989. PMID: 2574305
-
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5.Am J Hum Genet. 1988 Nov;43(5):638-44. Am J Hum Genet. 1988. PMID: 2903664 Free PMC article.
-
[Familial adenomatous polyposis syndrome (FAP): pathogenesis and molecular mechanisms].Med Klin (Munich). 2003 Dec 15;98(12):776-82. doi: 10.1007/s00063-003-1325-2. Med Klin (Munich). 2003. PMID: 14685680 Review. German.
-
Genetic analysis of colorectal cancer.Princess Takamatsu Symp. 1989;20:49-59. Princess Takamatsu Symp. 1989. PMID: 2562187 Review.
Cited by
-
Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.Am J Hum Genet. 1993 Feb;52(2):273-9. Am J Hum Genet. 1993. PMID: 8381580 Free PMC article.
-
Allele loss from 5q21 (APC/MCC) and 18q21 (DCC) and DCC mRNA expression in breast cancer.Br J Cancer. 1993 Jul;68(1):64-8. doi: 10.1038/bjc.1993.287. Br J Cancer. 1993. PMID: 8318422 Free PMC article.
-
Linkage studies in Italian families with familial adenomatous polyposis.Hum Genet. 1993 Jan;90(5):545-50. doi: 10.1007/BF00217456. Hum Genet. 1993. PMID: 8094067
-
Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer.Br J Cancer. 1994 Jul;70(1):173-6. doi: 10.1038/bjc.1994.271. Br J Cancer. 1994. PMID: 8018532 Free PMC article.
-
APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.Br J Cancer. 1994 Nov;70(5):841-6. doi: 10.1038/bjc.1994.408. Br J Cancer. 1994. PMID: 7524601 Free PMC article.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Research Materials
Miscellaneous