Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer

Michael Pulsipher, Gary M. Kupfer, Dieter Naf, Ahmed Suliman, Jeng Shin Lee, Petra Jakobs, Markus Grompe, Hans Joenje, Colin Sieff, Eva Guinan, Richard Mulligan, Alan D. D'Andrea

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A-H). Two of the FA genes (FAA and FAC) have been cloned, and mutations in these genes account for approximately 80% of FA patients. Subtyping of FA patients is an important first step forward identifying candidates for FA gene therapy. In the current study, we analyzed a reference group of 26 FA patients of known subtype. Most of the patients (18/26) were confirmed as either type A or type C by immunoblot analysis with anti-FAA and anti-FAC antisera. In order to resolve the subtype of the remaining patients, we generated retroviral constructs expressing FAA and FAC for tranduction of FA cell lines (pMMP-FAA and pMMP-FAC). The pMMP-FAA construct specifically complemented the abnormal phenotype of cell lines from FA-A patients, while pMMP-FAC complement FA-C cells. In summary, the combination of immunoblot analysis and retroviral- mediated phenotypic correction of FA cells allows a rapid method of FA subtyping.

Original languageEnglish (US)
Pages (from-to)468-479
Number of pages12
JournalMolecular Medicine
Issue number7
StatePublished - 1998

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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