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[The polyposis project].

T Gedde-Dahl, S Heim, R Lothe

    Nordisk Medicin
    |January 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

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    Researchers identified a gene linked to adenomatous polyposis coli (APC) and found increased chromosomal instability and DNA repair issues in patients. The disease prevalence in Norway was 1/43,500 in 1988.

    Area of Science:

    • Genetics
    • Oncology
    • Molecular Biology

    Context:

    • Established a national polyposis registry in Norway in 1978.
    • Conducted genetic linkage studies using DNA markers.
    • Investigated in vitro fibroblast transformation and chromosomal instability.

    Purpose:

    • To investigate the genetic basis of adenomatous polyposis coli (APC).
    • To determine the prevalence and mutation rate of APC in Norway.
    • To identify potential diagnostic markers for APC.

    Summary:

    • Confirmed close linkage between the APC gene locus and D5S71.
    • Detected statistically significant chromosomal instability and abnormal DNA repair in affected individuals.
    • Determined APC prevalence in Norway as 1/43,500 by January 1, 1988.

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    Impact:

    • Estimated APC incidence at birth for 1931-1950 cohort as 1/20,000.
    • Calculated APC mutation rate as 1/72,000 per gamete per generation.
    • Projected new APC mutations to constitute 1/3-1/2 of new cases in Norway over two decades.