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Hanenberg, H. et al.

Hanenberg, Batish, Pollok, Vieten, Verlander, Leurs, Cooper, Göttsche, Haneline, Clapp, Lobitz, Williams, Auerbach,

Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool.

OBJECTIVE: The aim of this study was to develop a rapid laboratory procedure that is capable of subtyping Fanconi anemia (FA) complementation groups FA-A, FA-C, FA-G, and FA-nonACG patients from a small amount of peripheral blood. MATERIALS AND METHODS: For this test, primary peripheral blood-derived FA T cells were transduced with oncoretroviral vectors that expressed FANCA, FANCC, or FANCG cDNA. We achieved a high efficiency of gene transfer into primary FA T cells by using the fibronectin fragment CH296 during transduction. Transduced cells were analyzed for correction of the characteristic DNA cross-linker hypersensitivity by cell survival or by metaphase analyses. RESULTS: Retroviral vectors containing the cDNA for FA-A, FA-C, and FA-G, the most frequent complementation groups in North America, allowed rapid identification of the defective gene by complementation of primary T cells from 12 FA patients. CONCLUSION: Phenotypic correction of FA T cells using retroviral vectors can be used successfully to determine the FA complementation group immediately after diagnosis of the disease.[1]

References

Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. Hanenberg, H., Batish, S.D., Pollok, K.E., Vieten, L., Verlander, P.C., Leurs, C., Cooper, R.J., Göttsche, K., Haneline, L., Clapp, D.W., Lobitz, S., Williams, D.A., Auerbach, A.D. Exp. Hematol. (2002) [Pubmed]

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