RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of blood cancers. PURPOSE: The purpose of this study is to analyze in the laboratory blood and bone marrow cells from healthy volunteers or patients with Fanconi anemia, myeloproliferative disorders, or myeloma.
OBJECTIVES: * Identify the specific molecular function of the Fanconi anemia (FA) complementing gene products in hematopoietic progenitor cells from patients and normal volunteers. * Identify functional defects in hematopoietic stromal cells, including macrophages, from patients with FA, and selected blood cancers as well as normal volunteers. OUTLINE: Peripheral blood mononuclear leukocytes, skin fibroblasts, and marrow fibroblasts are collected for loss-of-function and gain-of-function analysis related to the Fanconi anemia complementing gene.
Study Type
OBSERVATIONAL
Enrollment
213
Knight Cancer Institute at Oregon Health and Science University
Portland, Oregon, United States
Loss of function analyses
Time frame: Duration of the study
Proteins binding to Fanconi anemia, complementation group C (FACC) gene-product by affinity chromatography of nuclear and whole cell lysates of normal cells
Time frame: Duration of the study
Screening of proteins binding to FACC gene-product using monoclonal antibodies specific to signal transduction and cell cycle proteins
Time frame: Duration of the study
Microsequencing of unique proteins
Time frame: Duration of the study
Location of specific downstream block point imposed by antisense molecules using antibodies specific to signal transduction, cell cycle, or repair proteins for the FACC protein
Time frame: Duration of the study
Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood
Time frame: Duration of the study
Identification of functional defects in Fanconi anemia hematopoietic stromal cells
Time frame: Duration of the study
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