The Gene for Familial Polyposis Coli Maps to the Long Arm of Chromosome 5
SciencePublished 4 December 1987
M. Leppert, M. Dobbs, Peter Scambler, P. O’Connell, Yusuke Nakamura, Dora Stauffer
Citations676
SJR quartileQ1
SJR score10.42
SNIP6.62
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5.
Abstract
The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5. Sixteen DNA marker loci were used to construct a linkage map of the chromosome. When five kindreds segregating a gene for adenomatous polyposis coli were characterized with a number of the markers, significant linkage was found between one marker and the disease gene. Linkage analysis determined the location of the defective gene within a primary genetic map of chromosome 5.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
Proceedings of the National Academy of SciencesStrategies for multilocus linkage analysis in humans.
2,574 Citations1984G.M. Lathrop, J.-M. Lalouel +2 more
The results show that considerable economy and efficiency can be brought to the mapping endeavor by resorting to appropriate strategies of detecting linkage and by constructing the human genetic map on a common reference panel of families.
NaturePrevalence of ras gene mutations in human colorectal cancers
1,863 Citations1987Johannes L. Bos, Eric R. Fearon +5 more
A combination of DNA hybridization analyses and tissue sectioning techniques demonstrate that ras gene mutations occur in over a third of human colorectal cancers, that most of the mutations are at codon 12 of the c-Ki-ras gene and that the mutations usually precede the development of malignancy.
Nucleic Acids ResearchRapid transfer of DNA from agarose gels to nylon membranes
1,796 Citations1985Ken C. Reed, David A. Mann
It is found that nylon membrane completely retains native (and denatured) DNA in transfer solvents of low ionic strength (including distilled water), although quantitative elution of DNA from the gel is limited to fragments smaller than 4 Kb.
NatureLocalization of the gene for familial adenomatous polyposis on chromosome 5
1,388 Citations1987Walter F. Bodmer, Clyde Bailey +11 more
It is shown that the FAP gene is on chromosome 5, most probably near bands 5q21–q22, and that the same gene may be involved in both familial and non-familial cases of a given tumour.
PubMedMultilocus linkage analysis in humans: detection of linkage and estimation of recombination.
1,233 Citations1985G.M. Lathrop, J.-M. Lalouel +2 more
A computer program package, LINKAGE, for multilocus linkage analysis is described and the appropriateness of assuming no interference with data available in human genetic studies is considered.
Diseases of the Colon & RectumMalignant tumors of the central nervous system associated with familial polyposis of the colon
472 Citations1959J Turcot, Jean-Paul Després +1 more
Turcot syndrome is the association between familial adenomatous polyposis and brain tumors like medulloblastoma, malignant glioma, and hence carries the first author's name.
American Journal of Medical GeneticsGardner syndrome in a man with an interstitial deletion of 5q
461 Citations1986L Herrera, Surabhi Kakati +4 more
This is the first report of a Gardner syndrome patient with an interstitial deletion of 5q, and a polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations.
PubMedA genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum.
407 Citations1951Eldon J. Gardner
The hereditary pattern of a simple dominant factor was demonstrated and followed through several successive generations and several of the pedigrees cited above illustrate the pattern of simple dominant inheritance.
CancerHereditary nonpolyposis colorectal cancer (lynch syndromes I and II). I. Clinical description of resource
398 Citations1985Henry T. Lynch, William J. Kimberling +11 more
One documented clinical feature was a predilection for proximal versus distal colonic cancer in both CFS and HSSCC kindreds, which clarifies the need for instituting effective surveillance earlier to detect the predominantly proximal colonic cancers.
NatureConstruction of linkage maps with DNA markers for human chromosomes
320 Citations1985R. White, Mark Leppert +7 more
DNA markers and sampling of three-generation families can be used to construct complete linkage maps of human chromosomes, important in mapping disease loci and in determining the genetic or environmental component of a disease.
New England Journal of MedicineDominant Inheritance of Adenomatous Colonic Polyps and Colorectal Cancer
230 Citations1985Randall W. Burt, D. Timothy Bishop +4 more
Investigation of the inheritance of susceptibility to colonic polyps and cancer in a large Utah pedigree with multiple cases of common colorectal cancer suggested that the observed excess was the result of an inherited autosomal dominant gene for susceptibility, rather than an inherited recessive genes for susceptibility or a chance occurrence.
PubMedIsolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.
166 Citations1984Webster K. Cavenee, Robin J. Leach +3 more
A recombinant DNA library enriched for portions of human chromosome 13 has been constructed from a hamster-human somatic cell hybrid that contained human chromosomes 13, 12, and 6p, and the RFLPs at these loci have been shown to behave as codominant Mendelian alleles.
OphthalmologyThe Gardner Syndrome
111 Citations1984Richard A. Lewis, William E. Crowder +3 more
Three families in which multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium are related uniquely to other phenotypic features of the Gardner gene are studied, suggesting that the Gardner syndrome may be genetically heterogeneous.
PubMedA fine structure physical map of the short arm of chromosome 5.
33 Citations1986Joan Overhauser, Arthur L. Beaudet +1 more
One hundred twenty DNA fragments isolated from a genomic library enriched for sequences from 5p were regionally localized by Southern blot analysis of the hybrid cell deletion mapping panel, including five DNA fragments that reveal restriction fragment length polymorphisms.
PubMedDeletion mapping of human chromosome 5 using chromosome-specific DNA probes.
17 Citations1985L R Carlock, Douglas Skarecky +2 more
The chromosome 5-specific DNA library, together with a genetic selective procedure allowing the isolation of hybrid cell lines with deletions of virtually any portion of 5q, will provide a means to construct very accurate physical and recombinational maps of this human chromosome.
PubMed[IUDs available for clinical use].
1 Citations1985G Riano-gamboa
Before the pros and cons of the different types of intrauterine devices now available on the market for clinical use are considered it is worth making some notations with regard to the term availability.