Linkage studies in Italian families with familial adenomatous polyposis

Cristina Mareni, Alessandro Stella, Paola Origone, Francesco Susca, Maria Pina Montera, Angelo Lonoce, Maurizio Ponz de Leon, Romano Sassatelli, Mattia Gentile, Anna Straface, Maria Lucia Caruso, Nicola Palasciano, Franco Ajmar, Ginevra Guanti

Research output: Contribution to journalArticlepeer-review


Linkage analysis was performed on 188 subjects belonging to 18 Italian families segregating for familial adenomatous polyposis (FAP) using 7 polymorphic markers (5 restriction fragment length and 2 dinucleotide repeat polymorphisms) mapping in 5q21. A two-point linkage analysis performed with the LINKAGE program gave significant lod scores (> 3) between the Pi227, C11p11, YN5.64, YN5.48 probes and the disease, whereas the ECB27, CB83 and EF5.44 markers showed lower lod scores. Some 11 recombination events were identified from the analysis of 101 meioses. The best map that we could determine confirmed that reported in previous studies. The location of the new marker, CB83, lying between YN5.64 and YN5.48, remains imprecise. No genetic heterogeneity was detected, with all the families showing linkage for at least one of the probes. One 34-year-old individual having an affected haplotype was however classified as healthy after clinical examinations. The results confirm the applicability of the linkage approach for presymptomatic diagnosis of FAP.

Original languageEnglish
Pages (from-to)545-550
Number of pages6
JournalHuman Genetics
Issue number5
Publication statusPublished - Jan 1993

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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