Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer

  • Päivi Peltomäki
    Department of Medical Genetics, University of Helsinki, SF-00014 Helsinki, Finland.
  • Lauri A. Aaltonen
    Department of Medical Genetics, University of Helsinki, SF-00014 Helsinki, Finland.
  • Pertti Sistonen
    Department of Medical Sciences, University of Helsinki, and Finnish Red Cross Blood Transfusion Service, SF-00310 Helsinki, Finland.
  • Lea Pylkkänen
    Department of Medical Genetics, University of Helsinki, SF-00014 Helsinki, Finland.
  • Jukka-Pekka Mecklin
    Department of Surgery, Jyväskylä Central Hospital, SF-40620 Jyvaskyla, Finland.
  • Heikki Järvinen
    Second Department of Surgery, Helsinki University Central Hospital, SF-00290 Helsinki, Finland.
  • Jane S. Green
    Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada A1 B 3V6.
  • Jeremy R. Jass
    Department of Pathology, University of Auckland School of Medicine, Auckland, New Zealand.
  • James L. Weber
    Marshfield Medical Research Foundation, Marshfield, Wl 54449.
  • Fredrick S. Leach
    Departments of Oncology, Pathology, and Epidemiology, Johns Hopkins University School of Medicine and School of Public Health and Hygiene, and Johns Hopkins Hospital, Baltimore, MD 21231.
  • Gloria M. Petersen
    Departments of Oncology, Pathology, and Epidemiology, Johns Hopkins University School of Medicine and School of Public Health and Hygiene, and Johns Hopkins Hospital, Baltimore, MD 21231.
  • Stanley R. Hamilton
    Departments of Oncology, Pathology, and Epidemiology, Johns Hopkins University School of Medicine and School of Public Health and Hygiene, and Johns Hopkins Hospital, Baltimore, MD 21231.
  • Albert de la Chapelle
    Department of Medical Genetics, University of Helsinki, SF-00014 Helsinki, Finland.
  • Bert Vogelstein
    Departments of Oncology, Pathology, and Epidemiology, Johns Hopkins University School of Medicine and School of Public Health and Hygiene, and Johns Hopkins Hospital, Baltimore, MD 21231.

抄録

<jats:p>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.</jats:p>

収録刊行物

  • Science

    Science 260 (5109), 810-812, 1993-05-07

    American Association for the Advancement of Science (AAAS)

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