Human Genetics

, Volume 97, Issue 5, pp 599–603 | Cite as

Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters

  • Anna Savoia
  • Adriana Zatteral
  • Domenico Del Principe
  • Hans Joenje
Original Investigation


Cell fusion studies using lymphoblastoid cell lines from Fanconi anaemia (FA) patients have identified five complementation groups (FA-A to FA-E) among European FA patients. In Italy, of the 45 FA families referred to the Italian Registry of Fanconi Anaemia (RIAF), 15 took part in a project for the identification of complementation groups. Since three immortalized lymphoblast lines were resistant to a cross-linking agent, we analysed only 12 patients by complementation analysis and found that 11 belong to complementation group A. Four and seven families came from two geographic clusters in the Veneto and Campania regions, respectively, which are thought to consist of aggregates of related families in reproductive isolation. The clinical characteristics of the patients showed both intra-and interfamilial heterogeneity, although overall the disease had a relatively mild course. Since the populations in both Veneto and Campania are likely to represent genetic isolates, our finding predicts linkage disequilibrium for markers flanking theFAA gene. DNAs from these FA families may thus be utilized for positional cloning of this gene through haplotype disequilibrium mapping.


Linkage Disequilibrium Metabolic Disease Positional Cloning Reproductive Isolation Cell Fusion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Anna Savoia
    • 1
  • Adriana Zatteral
    • 2
  • Domenico Del Principe
    • 3
  • Hans Joenje
    • 4
  1. 1.Servizio di Genetica MedicaIRCCS-Ospedale CSSSan Giovanni Rotondo, FoggiaItaly
  2. 2.Servizio di CitogeneticaOspedale “Elena d'Aosta”NaplesItaly
  3. 3.Dipartimento di Salute Pubblica e Biologia CellulareUniversità di Roma Tor VergataRomeItaly
  4. 4.Department of Human GeneticsFree UniversityAmsterdamThe Netherlands

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