APC intragenic haplotypes in familial adenomatous polyposis

Rosário Almeida, Newton Morton, Paulo Fidalgo, Nobre Leitão, Costa Mira, José Rueff, Carolino Monteiro

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Abstract

Genetic epidemiological studies are useful for the knowledge of the association of markers and genes involved in diseases. In the present work, we studied the frequency of four adenomatous polyposis coli intragenic RFLP markers often used in risk evaluation in a population of 10 familial adenomatous polyposis patients from 10 unrelated Portuguese familial adenomatous polyposis families not sharing the same mutation, and in a population of 55 unrelated healthy Portuguese volunteers. We compared the frequency obtained to normal and affected populations and to results already reported in other populations. We observed allelic frequencies for the Portuguese population that agree with the published ones. The intragenic polymorphisms show strong gametic disequilibrium suggesting little recombination between them. We observed haplotype frequencies significantly different in patients and controls. The gametic disequilibrium may be due to a common founder for a proportion of apparently unrelated probands.

Original languageEnglish
Pages (from-to)483-485
Number of pages3
JournalClinical Genetics
Volume50
Issue number6
Publication statusPublished - 1 Dec 1996

Keywords

  • APC
  • FAP
  • Founder effect
  • Gametic disequilibrium
  • Genetic epidemiology
  • Portuguese population

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    Almeida, R., Morton, N., Fidalgo, P., Leitão, N., Mira, C., Rueff, J., & Monteiro, C. (1996). APC intragenic haplotypes in familial adenomatous polyposis. Clinical Genetics, 50(6), 483-485.