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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1998-10-22
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pubmed:abstractText |
Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A-H). Two of the FA genes (FAA and FAC) have been cloned, and mutations in these genes account for approximately 80% of FA patients. Subtyping of FA patients is an important first step toward identifying candidates for FA gene therapy. In the current study, we analyzed a reference group of 26 FA patients of known subtype. Most of the patients (18/26) were confirmed as either type A or type C by immunoblot analysis with anti-FAA and anti-FAC antisera. In order to resolve the subtype of the remaining patients, we generated retroviral constructs expressing FAA and FAC for transduction of FA cell lines (pMMP-FAA and pMMP-FAC). The pMMP-FAA construct specifically complemented the abnormal phenotype of cell lines from FA-A patients, while pMMP-FAC complemented FA-C cells. In summary, the combination of immunoblot analysis and retroviral-mediated phenotypic correction of FA cells allows a rapid method of FA subtyping.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-1303234,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-1574115,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-2416955,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-3804331,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-4050789,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-6431403,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-6804195,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7243421,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7517562,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7517716,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7581439,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7581463,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7662964,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7904176,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-7994019,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8081006,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8128956,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8500573,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8639804,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8673053,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8705856,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8876147,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-8896563,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9169126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9207444,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9217996,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9292505,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9345011,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9371798,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9382107,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9713825-9398857
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1076-1551
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pubmed:author |
pubmed-author:D'AndreaA DAD,
pubmed-author:GrompeMM,
pubmed-author:GuinanEE,
pubmed-author:JakobsPP,
pubmed-author:JoenjeHH,
pubmed-author:KupferG MGM,
pubmed-author:LeeJ SJS,
pubmed-author:MulliganRR,
pubmed-author:NagCC,
pubmed-author:PulsipherMM,
pubmed-author:SieffCC,
pubmed-author:SulimanAA
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pubmed:issnType |
Print
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pubmed:volume |
4
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
468-79
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9713825-Amino Acid Sequence,
pubmed-meshheading:9713825-Base Sequence,
pubmed-meshheading:9713825-Blotting, Western,
pubmed-meshheading:9713825-Cell Cycle,
pubmed-meshheading:9713825-Cell Cycle Proteins,
pubmed-meshheading:9713825-Cell Line, Transformed,
pubmed-meshheading:9713825-Cells, Cultured,
pubmed-meshheading:9713825-DNA-Binding Proteins,
pubmed-meshheading:9713825-Fanconi Anemia,
pubmed-meshheading:9713825-Fanconi Anemia Complementation Group Proteins,
pubmed-meshheading:9713825-Fibroblasts,
pubmed-meshheading:9713825-Gene Therapy,
pubmed-meshheading:9713825-Gene Transfer Techniques,
pubmed-meshheading:9713825-Genetic Complementation Test,
pubmed-meshheading:9713825-Humans,
pubmed-meshheading:9713825-Immune Sera,
pubmed-meshheading:9713825-Lymphocytes,
pubmed-meshheading:9713825-Mitomycin,
pubmed-meshheading:9713825-Molecular Sequence Data,
pubmed-meshheading:9713825-Nuclear Proteins,
pubmed-meshheading:9713825-Proteins,
pubmed-meshheading:9713825-Retroviridae
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pubmed:year |
1998
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pubmed:articleTitle |
Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer.
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pubmed:affiliation |
Division of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
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