Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

About 950 genes (or a part of them) have been cloned. Using them as probes, DNA diagnosis is now available in hundreds of hereditary diseases and some malignant diseases. In many of them, detailed analysis into the mechanisms underlying the diseases has become possible. Examples of this capability include 21 hydroxylase deficiency, amyloid polyneuropathy, Duchenne/Becker muscular dystrophy, and CML. About one third of the cloned genes show RFLPs (restriction fragment length polymorphisms). In addition "random" DNA fragments have been cloned, many of them can also be used to detect RFLPs. An RFLP study has proven very useful in the preclinical/prenatal diagnosis of hereditary diseases even though gene-action is unknown (e.g., Huntington disease and von Recklinghausen disease). DNA diagnosis has also been found to be very useful in the detection of microorganisms, minute chromosome changes (e.g., XX males) and for forensic purposes. The techniques and understanding of DNA diagnosis have become mandatory in many areas of medicine.
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PMID:[DNA diagnosis in medicine]. 197 43

Applications of nucleic acid testing in most areas of the clinical laboratory have increased rapidly. The advantages of nucleic acid testing include enhanced specificity and sensitivity, ease of sample procurement, and more rapid turnaround time compared to conventional laboratory testing methods. However, the cost of testing is usually higher due to the need for additional laboratory space, specialized equipment, safety apparel, and the need for highly trained personnel. Most nucleic acid techniques currently used in a clinical setting can be categorized as either hybridization or amplification assays. Hybridization assays, including blotting techniques and microarrays, involve the complementary binding of an oligonucleotide probe of known DNA sequence with nucleic acid derived from the patient sample. To amplify small amounts of nucleic acid, assays such as the polymerase chain reaction and branched chain DNA employ either signal amplification or exponential amplification of target nucleic acid. Clinical applications of nucleic acid testing involve the detection of genetic diseases, e.g., sickle cell anemia and Huntington disease; and identification of infectious agents, e.g., HCV and HIV; or malignancies, e.g., chronic myelogenous leukemia and Burkitt lymphoma. Quantitative molecular assays also play important roles in predicting prognosis and monitoring responsiveness to therapy.
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PMID:The new millennium laboratory: molecular diagnostics goes clinical. 1176 Aug 24