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)

Formamide gel electrophoresis separates the mRNA fraction from reticulocyte polyribosomes of adult humans into two major RNA species with migratory rates identical to those of the alpha- and beta-globin mRNAs of the rabbit. That these two RNAs of human origin are the globin mRNAs is further supported by the deficiency of the presumed beta mRNA in reticulocyte polyribosomes of fetuses and premature infants, whose cells make gamma chains in preference to beta chains. The globin mRNAs of reticulocyte polyribosomes from patients with hematological disorders were estimated by scanning the stained formamide gels. In contrast to individuals with either hemolytic anemia without hemoglobinopathy or sickle cell anemia who had beta mRNA to alpha mRNA ratios of approximately one, a patient with Hb S-beta-thalassemia had a ratio of beta mRNA to alpha mRNA of 0.75 while two subjects with homozygous beta-thalassemia had severe deficiencies of beta mRNA. Conversely, a patient with alpha-thalassemia (Hb H disease) had a ratio of beta mRNA to alpha mRNA on reticulocyte polyribosomes of 6. These data provide further evidence of a quantitative deficiency of chain-specific globin mRNA in patients with the thalassemia syndromes.
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PMID:Further evidence of a quantitative deficiency of chain-specific globin mRNA in the thalassemia syndromes. 105 38

OBJECTIVE: To establish a rapid and convenient single strand conformation polymorphism (SSCP) analysis method for detecting the point mutation of non-deletional alpha-thalassemia. METHODS: The 543bp DNA fragment spanning the hot spot region mainly responsible for non-deletional alpha-thalassemia was nested amplified using the selective amplification of alpha2 globin gene as a template and was denatured with low ionic strength(LIS) solution followed by SSCP analysis. RESULTS: LIS buffer was more efficient for ssDNA formation than formamide buffer was and the formation of ssDNA was very stable. In addition to a normal electrophoresis pattern, at least three SSCP profiles can be detected by the present method when the DNA samples bearing non-deletional genes of Hb H disease were screened. Confirmed by DNA sequencing analysis, the DNAs represented these profiles have turned out to be the different three mutants, i.e., the alphaCS mutation, the alpha QS mutation and the alphaWestmead mutation, respectively. Only 3 hours were needed to complete the electrophoresis procedure of this method. CONCLUSION: PCR-LIS-SSCP can be used as a tool in rapid screening for the alterations in human alpha-globin gene.
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PMID:[Rapid detection of non-deletional alpha-thalassemia mutations by PCR-LIS-SSCP] 1020 Mar 68

Beta-thalassemia, by its high frequency and its heterogeneity, constitutes a real problem of health in Tunisia. Prenatal diagnosis by DNA analysis represents the only reality for couples at risk. The denaturant gradient (urea and formamide) on polyacrylamide gel electrophoresis has been performed in our laboratory, using psoralen as chemical clamps. This method is simple, reliable, safe, rapid, without radioactivity and has a reasonable cost (chemical clamps). Even if it needs an informatic modelization in other laboratories, this method seems to be adapted to our economic and work conditions and to the molecular heterogeneity of the Tunisian beta-thalassemia. We present the results of an epidemiological molecular study on 75 patients with beta-thalassemia and the results of ten prenatal diagnosis. The molecular lesions codon 39 (C-T) and IVS1 nt2 (T-G) are the most frequent in our study. This technical approach provides genetic counselling for at risk families by offering prenatal diagnosis (reducing as possible the cost and the delay of the result) after prealable family study and identification of the mutation(s).
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PMID:[Molecular analysis and prenatal diagnosis of beta-thalassemia: about our experience in central Tunisia]. 1093 46

There are a number of methods for genetic diagnosis of a point mutation and/or deletion/insertion of several nucleotides. However, none of these methods are satisfactory with respect to sensitivity, accuracy and cost effectiveness. In 2003, the Hybridization Probe method was first reported, but it was unsatisfactory. We attempted to improve this method by separating the step of using real-time PCR with melting curve analysis. In our improved method, or Hybri Probe method, the sensitivity and accuracy of Tm were remarkably improved by employing H2O and Hi-Di Formamide. In order to detect several beta-thalassemia mutations, relevant probes of basically wild sequence were prepared, and optimal conditions for detecting mutations were studied. This method yielded highly sensitive and accurate results. This Hybri Probe method is available for SNPs and microsatellite polymorphisms, and it may also be useful for the detection of gene abnormalities other than those in beta-thalassemia.
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PMID:[Improved hybridization probe method for genetic analysis of beta-thalassemia]. 2211 3