Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have developed a technique to diagnose the alpha- and beta-thalassemia (thal) syndromes using the polymerase chain reaction to amplify cDNA copies of circulating erythroid cell messenger RNA (mRNA) so as to quantitate the relative amounts of alpha-, beta-, and gamma-globin mRNA contained therein. Quantitation, performed by scintillation counting of 32P-dCTP incorporated into specific globin cDNA bands, showed ratios of alpha/beta-globin mRNA greater than 10-fold and greater than fivefold increased in patients with beta 0- and beta (+)-thal, respectively, as well as a relative increase in gamma-globin mRNA levels. Conversely, patients with alpha-thalassemia showed a decreased ratio of alpha/beta-globin mRNA proportional to the number of alpha-globin genes deleted. This methodology of ascertaining ratios of globin mRNA species provides a new, simplified approach toward the diagnosis of thalassemia syndromes, and may be of value in other studies of globin gene expression at the transcription level.
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PMID:Diagnosis of thalassemia using cDNA amplification of circulating erythroid cell mRNA with the polymerase chain reaction. 162 91

In previous studies of patients with beta thalassemia, mRNA extracted from reticulocytes in peripheral blood when added to cell-free systems reproduces the deficient beta-chain synthesis characteristic of intact cells. The present studies with specific probes for alpha and beta mRNA were designed to decide whether the decreased beta mRNA activity is due to the presence of abnormal or reduced beta globin mRNA in these cells. Purified alpha and beta complementary DNAs (cDNAs) have been synthesized with RNA-instructed DNA polymerase; alpha and beta mRNAs isolated from heavy (beta-producing) and light (alpha-producing) polyribosomes of rabbit reticulocytes were used as templates. Each of the cDNAs is more than 80% pure by the criterion of biological activity. The alpha cDNA labeled with [(32)P]dCTP and the beta cDNA labeled with [(3)H]dCTP have been added simultaneously to reaction mixtures containing various concentrations of mRNA from thalassemic and nonthalassemic subjects. The extent and rate of hybridization were determined, permitting a comparison of relative alpha and beta mRNA content in the same annealing mixture. In six nonthalassemic patients, relatively equal amounts of hybridizable alpha and beta mRNA appear to be present. In five of seven patients with beta-thalassemia, significantly decreased amounts of beta mRNA compared to alpha mRNA can be demonstrated. In two patients with Hemoglobin H disease, there is a decreased amount of alpha mRNA compared to beta mRNA.
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PMID:Decreased globin messenger RNA in thalassemia detected by molecular hybridization. 412 7