Related Experiment Videos
[Molecular study of hematological diseases]
1First Department of Internal Medicine, Tokyo Medical and Dental University.
Rinsho Byori. the Japanese Journal of Clinical Pathology
|June 1, 1994
Summary
Molecular diagnostics are revolutionizing hematology, enabling DNA-level disease detection. Techniques like PCR and blotting identify gene rearrangements and mutations crucial for diagnosing leukemia and lymphoma.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Context:
- Advances in molecular technology have introduced DNA-level diagnostic procedures in hematology.
- Established techniques include Southern blotting, Northern blotting, RT-PCR, and PCR-SSCR for gene analysis.
Purpose:
- To review and highlight the application of molecular diagnostic methods in hematological diseases.
- To discuss the detection of specific gene rearrangements and mutations in various hematological malignancies.
Summary:
- Gene rearrangements in Bcr are key in chronic myelogenous leukemia and Philadelphia-positive leukemia.
- Acute promyelocytic leukemia shows rearrangements in retinoic acid receptor-alpha and PML genes.
- Malignant lymphomas involve rearrangements of immunoglobulin, T-cell receptor, and other genes like Bcl-5.
- Point mutations and deletions in coagulation and fibrinolysis genes, including alpha 2-plasmin inhibitor, have been identified.
- Mutated proteins are often retained in the endoplasmic reticulum.
Impact:
- Molecular diagnostics are becoming routine for gene mutation identification, improving disease diagnosis and understanding.
- These methods facilitate precise characterization of hematological malignancies.
- The study underscores the utility of cloned probes and PCR in identifying specific genetic alterations.