| Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. | |
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MedLine Citation:
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PMID: 7662964 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Blood Volume: 86 ISSN: 0006-4971 ISO Abbreviation: Blood Publication Date: 1995 Sep |
Date Detail:
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Created Date: 1995-10-12 Completed Date: 1995-10-12 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7603509 Medline TA: Blood Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 2156-60 Citation Subset: AIM; IM |
Affiliation:
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Department of Human Genetics, Free University, Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cell Fusion Cell Line Chromosome Aberrations Fanconi Anemia / classification*, genetics, pathology Genes, Recessive Genetic Complementation Test Humans Infant, Newborn Lymphocytes / ultrastructure Male |
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