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Evaluation of Formin Gene Status and Expression in Myeloproliferative and Myelodysplastic Disorders

04:27 EDT 26th May 2013 | BioPortfolio

Summary

Aim of the study is to analyze the expression of genes and sequences encoding the human mammalian diaphanous (mDia) related formin proteins to test the hypothesis that defects in the mDia expression or function might drive the pathophysiology of myelodysplastic syndrome, acute myeloid leukemia and other myeloproliferative diseases.

Description

Leukocytes and myeloid lineage cells from these specimens will be assayed for expression of DRF genes using standard molecular biological approaches to measure mRNA levels. Extracted DNA will be analyzed for mutations that affect expressions or function using direct sequencing techniques.

Alternatively, expression of DRF gene products (mDia proteins) will be assessed using specific antibodies and flow cytometry. Molecular findings resulting from these assays will be correlated with clinical information recorded in specimen logbook.

Study Design

Time Perspective: Prospective

Conditions

Myeloproliferative Disorder

Location

Van Andel Research Institute
Grand Rapids
Michigan
United States
49503

Status

Completed

Source

Spectrum Health Hospitals

Results (where available)

View Results

Links

Medical and Biotech [MESH] Definitions

Leukemia, Myelomonocytic, Juvenile

A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.

Myelodysplastic-myeloproliferative Diseases

Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.

Leukemia, Erythroblastic, Acute

A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.

Leukemia, Neutrophilic, Chronic

A rare myeloproliferative disorder that is characterized by a sustained, mature neutrophilic leukocytosis. No monocytosis, EOSINOPHILIA, or basophilia is present, nor is there a PHILADELPHIA CHROMOSOME or bcr-abl fusion gene (GENES, ABL).

Leukemia, Myeloid, Chronic, Atypical, Bcr-abl Negative

A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL).

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