Molecular characterization of Fanconi anaemia group C (FAC) gene polymorphisms

Anna Savoia, Marta Centra, Leonarda Ianzano, Gian Pio De Cillis, Manuel Buchwald, Leopoldo Zelante

Research output: Contribution to journalArticlepeer-review


Fanconi anaemia (FA) is a genetically heterogeneous disease with defects in at least five genes. The gene for complementation group C (FAC) has been cloned and mapped to chromosome 9q22.3 in the interval between D9S280 and D9S287. Linkage analysis is a rapid tool for the exclusion of FA families from complementation group C. The currently available markers are informative microsatellites flanking FAC and an intragenic restriction fragment length polymorphism (RFLP). In this paper, the identification of three CA polymorphic repeats localized in introns - 1a, 2 and 3 and one rare variant in exon 2 are reported. The new microsatellites will enable more accurate analysis not only of FA but also in families affected by multiple self-healing squamous epitheliomata (ESS1) and nevoid basal cell carcinoma (NBCCS), since the genes of both syndromes have been mapped in the same interval as FAC.

Original languageEnglish
Pages (from-to)213-218
Number of pages6
JournalMolecular and Cellular Probes
Issue number3
Publication statusPublished - Jun 1996


  • CA repeat
  • Fanconi anaemia
  • Linkage analysis
  • Polymorphism

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology


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