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.
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.
Authors: Isabell Popp; Maqsood Punekar; Nick Telford; Stavros Stivaros; Kate Chandler; Meenakshi Minnis; Anna Castleton; Claire Higham; Louise Hopewell; D Gareth Evans; Anja Raams; Arjan F Theil; Stefan Meyer; Detlev Schindler Journal: BMC Med Genet Date: 2018-01-11 Impact factor: 2.103
Authors: Peter Ebeling; P Bach; U Sorg; A Schneider; T Trarbach; D Dilloo; H Hanenberg; S Niesert; S Seeber; T Moritz; M Flasshove Journal: J Cancer Res Clin Oncol Date: 2006-10-20 Impact factor: 4.553
Authors: Reinhard Kalb; Kornelia Neveling; Holger Hoehn; Hildegard Schneider; Yvonne Linka; Sat Dev Batish; Curtis Hunt; Marianne Berwick; Elsa Callen; Jordi Surralles; Jose A Casado; Juan Bueren; Angeles Dasi; Jean Soulier; Eliane Gluckman; C Michel Zwaan; Rosalina van Spaendonk; Gerard Pals; Johan P de Winter; Hans Joenje; Markus Grompe; Arleen D Auerbach; Helmut Hanenberg; Detlev Schindler Journal: Am J Hum Genet Date: 2007-04-06 Impact factor: 11.025
Authors: Alfons Meindl; Heide Hellebrand; Constanze Wiek; Verena Erven; Barbara Wappenschmidt; Dieter Niederacher; Marcel Freund; Peter Lichtner; Linda Hartmann; Heiner Schaal; Juliane Ramser; Ellen Honisch; Christian Kubisch; Hans E Wichmann; Karin Kast; Helmut Deissler; Christoph Engel; Bertram Müller-Myhsok; Kornelia Neveling; Marion Kiechle; Christopher G Mathew; Detlev Schindler; Rita K Schmutzler; Helmut Hanenberg Journal: Nat Genet Date: 2010-04-18 Impact factor: 38.330
Authors: Yan Li; Shi Chen; Jin Yuan; Yanzhu Yang; Jingling Li; Jin Ma; Xiaohua Wu; Marcel Freund; Karen Pollok; Helmut Hanenberg; W Scott Goebel; Feng-Chun Yang Journal: Blood Date: 2009-01-07 Impact factor: 22.113
Authors: Marianne Berwick; Jaya M Satagopan; Leah Ben-Porat; Ann Carlson; Katherine Mah; Rashida Henry; Raffaella Diotti; Kelly Milton; Kanan Pujara; Tom Landers; Sat Dev Batish; José Morales; Detlev Schindler; Helmut Hanenberg; Robert Hromas; Orna Levran; Arleen D Auerbach Journal: Cancer Res Date: 2007-10-01 Impact factor: 12.701
Authors: E E Hoskins; T A Morris; J M Higginbotham; N Spardy; E Cha; P Kelly; D A Williams; K A Wikenheiser-Brokamp; S Duensing; S I Wells Journal: Oncogene Date: 2008-11-17 Impact factor: 9.867