Document Detail

Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.
MedLine Citation:
PMID:  7662964     Owner:  NLM     Status:  MEDLINE    
Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms, life-threatening progressive panmyelopathy, and cellular hypersensitivity to cross-linking agents. Currently, 4 genetic subtypes or complementation groups (FA-A through FA-D) have been distinguished among 7 unrelated FA patients. We report the use of genetically marked FA lymphoblastoid cell lines representing each of the 4 presently known complementation groups to classify 13 unrelated FA patients through cell fusion and complementation analysis. Twelve cell lines failed to complement cross-linker sensitivity in fusion hybrids with only 1 of the 4 reference cell lines and could thus be unambiguously classified as FA-A (7 patients), FA-C (4 patients), or FA-D (1 patient). One cell line complemented all 4 reference cell lines and therefore represents a new complementation group, designated FA-E. These results imply that at least 5 genes appear to be involved in a pathway that, when defective, causes bone marrow failure in FA patients.
H Joenje; J R Lo ten Foe; A B Oostra; C G van Berkel; M A Rooimans; T Schroeder-Kurth; R D Wegner; J J Gille; M Buchwald; F Arwert
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Blood     Volume:  86     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  1995 Sep 
Date Detail:
Created Date:  1995-10-12     Completed Date:  1995-10-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2156-60     Citation Subset:  AIM; IM    
Department of Human Genetics, Free University, Amsterdam, The Netherlands.
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MeSH Terms
Cell Fusion
Cell Line
Chromosome Aberrations
Fanconi Anemia / classification*,  genetics,  pathology
Genes, Recessive
Genetic Complementation Test
Infant, Newborn
Lymphocytes / ultrastructure

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