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
1998 Molecular Medicine  
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 toward 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
doi:10.1007/bf03401752 fatcat:ua2pfyyzencz5al4ateim2b4si