Genetic characterization of the APC locus involved in familial adenomatous polyposis

Sylviane Olschwang; Barbara Weiffenbach; Pierre Laurent-puig; Thomas Melot; Anne Vassal; Katherine Falls; Remy J. Salmon; Roland Parc; Louise Strong; Yusuke Nakamura; Lemuel Herrera; Gilles Thomas

doi:10.1016/0016-5085(91)90472-W

Genetic characterization of the APC locus involved in familial adenomatous polyposis

Sylviane Olschwang, Barbara Weiffenbach, Pierre Laurent-puig, Thomas Melot, Anne Vassal, Katherine Falls, Remy J. Salmon, Roland Parc, Louise Strong, Yusuke Nakamura, Lemuel Herrera, Gilles Thomas

Genetics

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

Familial adenomatous polyposis is a rare disease inherited in a Mendelian dominant fashion. It is characterized by the occurrence of more than 100 adenomatous polyps in the large bowels of affected individuals. The genetic defect responsible for adenomatous polyposis resides at a locus called APC which has been localized to the long arm of human chromosome 5. In this study, the APC locus was mapped with respect to 11 markers known to map to this chromosomal segment. Linkage of APC to four of these markers had been previously reported. Three additional markers are shown here to be linked to APC. By multipoint analysis, the APC locus maps to an interval bounded by D5S49 and D5S58. The refined map of the APC locus and the new markers described here improve the informativeness and accuracy of the presymptomatic diagnosis of familial adenomatous polyposis.

Original language	English (US)
Pages (from-to)	154-160
Number of pages	7
Journal	Gastroenterology
Volume	101
Issue number	1
DOIs	https://doi.org/10.1016/0016-5085(91)90472-W
State	Published - Jul 1991

ASJC Scopus subject areas

Hepatology
Gastroenterology

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title = "Genetic characterization of the APC locus involved in familial adenomatous polyposis",

abstract = "Familial adenomatous polyposis is a rare disease inherited in a Mendelian dominant fashion. It is characterized by the occurrence of more than 100 adenomatous polyps in the large bowels of affected individuals. The genetic defect responsible for adenomatous polyposis resides at a locus called APC which has been localized to the long arm of human chromosome 5. In this study, the APC locus was mapped with respect to 11 markers known to map to this chromosomal segment. Linkage of APC to four of these markers had been previously reported. Three additional markers are shown here to be linked to APC. By multipoint analysis, the APC locus maps to an interval bounded by D5S49 and D5S58. The refined map of the APC locus and the new markers described here improve the informativeness and accuracy of the presymptomatic diagnosis of familial adenomatous polyposis.",

author = "Sylviane Olschwang and Barbara Weiffenbach and Pierre Laurent-puig and Thomas Melot and Anne Vassal and Katherine Falls and Salmon, {Remy J.} and Roland Parc and Louise Strong and Yusuke Nakamura and Lemuel Herrera and Gilles Thomas",

year = "1991",

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doi = "10.1016/0016-5085(91)90472-W",

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T1 - Genetic characterization of the APC locus involved in familial adenomatous polyposis

AU - Olschwang, Sylviane

AU - Weiffenbach, Barbara

AU - Laurent-puig, Pierre

AU - Melot, Thomas

AU - Vassal, Anne

AU - Falls, Katherine

AU - Salmon, Remy J.

AU - Parc, Roland

AU - Strong, Louise

AU - Nakamura, Yusuke

AU - Herrera, Lemuel

AU - Thomas, Gilles

PY - 1991/7

Y1 - 1991/7

N2 - Familial adenomatous polyposis is a rare disease inherited in a Mendelian dominant fashion. It is characterized by the occurrence of more than 100 adenomatous polyps in the large bowels of affected individuals. The genetic defect responsible for adenomatous polyposis resides at a locus called APC which has been localized to the long arm of human chromosome 5. In this study, the APC locus was mapped with respect to 11 markers known to map to this chromosomal segment. Linkage of APC to four of these markers had been previously reported. Three additional markers are shown here to be linked to APC. By multipoint analysis, the APC locus maps to an interval bounded by D5S49 and D5S58. The refined map of the APC locus and the new markers described here improve the informativeness and accuracy of the presymptomatic diagnosis of familial adenomatous polyposis.

AB - Familial adenomatous polyposis is a rare disease inherited in a Mendelian dominant fashion. It is characterized by the occurrence of more than 100 adenomatous polyps in the large bowels of affected individuals. The genetic defect responsible for adenomatous polyposis resides at a locus called APC which has been localized to the long arm of human chromosome 5. In this study, the APC locus was mapped with respect to 11 markers known to map to this chromosomal segment. Linkage of APC to four of these markers had been previously reported. Three additional markers are shown here to be linked to APC. By multipoint analysis, the APC locus maps to an interval bounded by D5S49 and D5S58. The refined map of the APC locus and the new markers described here improve the informativeness and accuracy of the presymptomatic diagnosis of familial adenomatous polyposis.

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Genetic characterization of the APC locus involved in familial adenomatous polyposis

Abstract

ASJC Scopus subject areas

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