{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T03:40:05Z","timestamp":1790048405662,"version":"4.0.1"},"reference-count":57,"publisher":"American Society of Hematology","issue":"13","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2002,12,15]]},"abstract":"<jats:p>Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome characterized by congenital abnormalities, progressive bone marrow failure, and cancer predisposition. Although patients with FA are candidates for bone marrow transplantation or gene therapy, their phenotypic heterogeneity can delay or obscure diagnosis. The current diagnostic test for FA consists of cytogenetic quantitation of chromosomal breakage in response to diepoxybutane (DEB) or mitomycin C (MMC). Recent studies have elucidated a biochemical pathway for Fanconi anemia that culminates in the monoubiquitination of the FANCD2 protein. In the current study, we develop a new rapid diagnostic and subtyping FA assay amenable for screening broad populations at risk of FA. Primary lymphocytes were assayed for FANCD2 monoubiquitination by immunoblot. The absence of the monoubiquitinated FANCD2 isoform correlated with the diagnosis of FA by DEB testing in 11 known patients with FA, 37 patients referred for possible FA, and 29 healthy control subjects. Monoubiquitination of FANCD2 was normal in other bone marrow failure syndromes and chromosomal breakage syndromes. A combination of retroviral gene transfer and FANCD2 immunoblotting provides a rapid subtyping assay for patients newly diagnosed with FA. These new FA screening assays would allow efficient testing of broad populations at risk.<\/jats:p>","DOI":"10.1182\/blood-2002-05-1399","type":"journal-article","created":{"date-parts":[[2002,11,26]],"date-time":"2002-11-26T18:42:38Z","timestamp":1038336158000},"page":"4649-4654","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":97,"title":["A novel diagnostic screen for defects in the Fanconi anemia pathway"],"prefix":"10.1182","volume":"100","author":[{"given":"Akiko","family":"Shimamura","sequence":"first","affiliation":[{"name":"From the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio Montes","family":"de Oca","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John L.","family":"Svenson","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Haining","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Moreau","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David G.","family":"Nathan","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan D.","family":"D'Andrea","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2019111822572257300_B1","first-page":"237","article-title":"The bone marrow failure syndromes.","volume":"1","author":"Alter","year":"1998","journal-title":"Nathan and Oski's Hematology of Infancy and Childhood."},{"key":"2019111822572257300_B2","first-page":"753","article-title":"In: Scriver CR et al. eds.","volume-title":"The Metabolic and Molecular Bases of Inherited Disease.","author":"Auerbach","year":"2001"},{"key":"2019111822572257300_B3","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1182\/blood.V90.5.1725","article-title":"Molecular biology of Fanconi anemia: implications for diagnosis and therapy.","volume":"90","author":"D'Andrea","year":"1997","journal-title":"Blood."},{"key":"2019111822572257300_B4","first-page":"47","article-title":"Fanconi's anemia.","volume-title":"Bone Marrow Failure Syndromes.","author":"Liu","year":"2000"},{"key":"2019111822572257300_B5","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/35076590","article-title":"The emerging genetic and molecular basis of Fanconi anaemia.","volume":"2","author":"Joenje","year":"2001","journal-title":"Nat Rev Genet."},{"key":"2019111822572257300_B6","first-page":"370","article-title":"Formal genetics of Fanconi's anaemia in the genetics of neoplasia.","volume":"230","author":"Schroeder","year":"1976","journal-title":"Nature."},{"key":"2019111822572257300_B7","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1002\/ajmg.1320270408","article-title":"Fanconi anemia; another disease of unusually high prevalence in the Afrikaans population of South Africa.","volume":"2","author":"Rosendorff","year":"1987","journal-title":"Am J Med Genet."},{"key":"2019111822572257300_B8","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/j.1365-2141.1980.tb07179.x","article-title":"In vitro effect of cyclophosphamide metabolites on chromosomes of Fanconi anaemia patients.","volume":"45","author":"Berger","year":"1980","journal-title":"Br J Haematol."},{"key":"2019111822572257300_B9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0165-4608(83)90021-3","article-title":"Effect of procarbazine and cyclophosphamide on chromosome breakage in Fanconi anemia cells: relevance to bone marrow transplantation.","volume":"9","author":"Auerbach","year":"1983","journal-title":"Cancer Genet Cytogenet."},{"key":"2019111822572257300_B10","first-page":"377","article-title":"Bone marrow transplantation for Fanconi anemia. 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