Fine exon-intron structure of the fanconi anemia group A (FAA) gene and characterization of two genomic deletions

Marta Centra, Elena Memeo, Maria D'Apolito, Maria Savino, Leonarda Ianzano, Angelo Notarangelo, Jingmei Liu, Norman A. Doggett, Leopoldo Zelante, Anna Savoia

Research output: Contribution to journalArticlepeer-review

Abstract

Fanconi anemia (FA) is a genetically heterogeneous disease with at least eight genes on the basis of complementation groups (FAA to FAH). The analysis of the FAA gene in patients suggested the existence of deletions, none of which have thus far been characterized at the genomic level. A detailed restriction map of the FAA gene with the fine localization of its 43 exons is reported in this paper. We also describe the first two genomic deletions, one of 5.0 kb and another of at least 120 kb. The former was likely the result of a recombination between related Alu sequences. Since these interspersed repeats could generate deletions and insertions by mispairing, rearrangements of this gene are a possibility in those FA families in which FAA mutations have not been identified.

Original languageEnglish
Pages (from-to)463-467
Number of pages5
JournalGenomics
Volume51
Issue number3
DOIs
Publication statusPublished - Aug 1 1998

ASJC Scopus subject areas

  • Genetics

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