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Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer

Päivi Peltomäki, Lauri A. Aaltonen, Pertti Sistonen, Lea Pylkkänen, Jukka-Pekka Mecklin, Heikki Järvinen, Jane S. Green, Jeremy R. Jass, James L. Weber, Fredrick S. Leach, Gloria M. Petersen, Stanley R. Hamilton, Albert de la Chapelle and Bert Vogelstein
Science
New Series, Vol. 260, No. 5109 (May 7, 1993), pp. 810-812
Stable URL: http://www.jstor.org/stable/2881171
Page Count: 3
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Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer
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Abstract

Genetic linkage analysis was used to determine whether a specific chromosomal locus could be implicated in families with a history of early onset cancer but with no other unique features. Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.

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