Document Detail

Molecular and cellular biology of Fanconi anemia.
MedLine Citation:
PMID:  1530124     Owner:  NLM     Status:  MEDLINE    
Fanconi anemia (FA) is an autosomal recessive disorder characterized by progressive pancytopaenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. The extensive clinical heterogeneity observed in FA is reflected in genetic heterogeneity; the existence of 4 complementation groups has been inferred from complementation analysis. FA is putatively characterized as a DNA repair disorder since cells derived from patients are hypersensitive to DNA cross-linking agents. Although the primary defects in FA are not known, biochemical evidence supports either a direct defect in the removal of DNA cross-links or a defect in the ability of cells to respond to oxidative stress resulting from the interaction with cross-linking agents. Confirmation of either hypothesis awaits the cloning of genes defective in FA; some of the strategies to this end are discussed.
C A Strathdee; M Buchwald
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  The American journal of pediatric hematology/oncology     Volume:  14     ISSN:  0192-8562     ISO Abbreviation:  Am J Pediatr Hematol Oncol     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-10-20     Completed Date:  1992-10-20     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7908071     Medline TA:  Am J Pediatr Hematol Oncol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  177-85     Citation Subset:  IM    
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
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MeSH Terms
Cells, Cultured
Child, Preschool
Chromosome Aberrations
Cloning, Molecular
DNA / genetics
DNA Repair
Fanconi Anemia / classification,  epidemiology,  genetics*
Free Radicals
Genes, Recessive
Genetic Complementation Test
Infant, Newborn
Leukemia, Myeloid, Acute / genetics
Oxygen / metabolism
Preleukemia / genetics
Reg. No./Substance:
0/Free Radicals; 7782-44-7/Oxygen; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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