The familial adenomatous polyposis region exhibits many different haplotypes

Alessandro Stella, Nicoletta Resta, Angela Polizzi, Mariapina Montera, Filomena Cariola, Francesco Susca, Viviana Gismondi, Lucio Bertario, Cristiana Marchese, Romano Tenconi, Maria Grazia Tibiletti, Paola Izzo, Mattia Gentile, Fernando Prete, Oronzo Pannarale, Giovanni Di Matteo, Paola Sala, Liliana Varesco, Cristina Mareni, Ginevra Guanti

Research output: Contribution to journalArticle

Abstract

In the present study, we used five different polymorphic markers to construct the haplotype at the adenomatous polyposis coli (APC) locus in families with familial adenomatous polyposis (FAP) and in the normal Italian population. Non-ambiguous haplotypes were reconstruct ed from 246 normal chromosomes and 65 FAP chromesomes. In the control population, the four polymorphisms intragenic to APC gave rise to 16 haplotypes, the most common of which (II and XV) accounted for over 50% of all chromosomes. In FAP patients, 13 haplotypes were found but their distribution was not statistically different from normal subjects. Eighty complete chromosomal haplotypes (many fewer than the theoretical maximum of 208) for the five polymorphic sites assayed were observed in the control population, 35 being found in the FAP patients. We compared the distribution of these haplotypes within the two groups; no statistically significant differences between normal and FAP chromosomes were found. The elevated heterogeneity of FAP chromosomes was clearly confirmed by the observation that 19 patients who carried one or other of the two most common APC mutations (nt 3183 and nt 3927) showed 18 different haplotypes. On the basis of these results, we were not able to identify a founder FAP chromosome. Various mechanisms are presented to explain this observation.

Original languageEnglish
Pages (from-to)624-628
Number of pages5
JournalHuman Genetics
Volume102
Issue number6
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Stella, A., Resta, N., Polizzi, A., Montera, M., Cariola, F., Susca, F., Gismondi, V., Bertario, L., Marchese, C., Tenconi, R., Tibiletti, M. G., Izzo, P., Gentile, M., Prete, F., Pannarale, O., Di Matteo, G., Sala, P., Varesco, L., Mareni, C., & Guanti, G. (1998). The familial adenomatous polyposis region exhibits many different haplotypes. Human Genetics, 102(6), 624-628. https://doi.org/10.1007/s004390050752