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Poly A RNA status and itsin vitro translation in a rabbit reticulolysate cell free system, were assessed in the skeletal muscle of young boys with Duchenne muscular dystrophy. Compared to normals there is a significant 48% increase in poly A RNA content of dystrophic muscle and its translatability was increased by 56% based on35S methionine incorporation into total protein systhesised. Immunoprecipitation of the translated products with monospecific antibodies showed that there is a 2.6 fold and a 2 fold increase in m and μ calpains respectively. This underlines the importance of both synthetic and degenerative activities in the early pathology in DMD muscle.  相似文献   
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The enhanced presence of calcium in the erythrocytes of thalassemia homozygotes along with an increase in cytosolic and membrane bound CANP, and a decrease in membrane glycoprotein and total membrane sulfhydryl groups are statistically significant changes.In vitro loading of erythrocytes with calcium in the presence of lonophore A23187 caused similar changes pointing to the significance of calcium mediated proteolysis, especially by CANP in preparing erythrocytes for the phagocytic event.  相似文献   
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Calcium—activated neutral proteases (CANP) were examined in the subcellular fractions of the skeletal muscle from Duchenne muscular dystrophy patients and healthy individuals. Both and m CANP were detected in subcellular fractions of skeletal muscle. An increase in the quantity of CANP in subcellular particles of DMD muscle was observed. A 33 fold rise in the concentration of calcium in nuclei of dystrophic muscle was noted followed by cytosol, myofibrils, microsomes and mitochondria.  相似文献   
4.
DNA samples from a family (parents and a son) with hereditary persistence of fetal hemoglobin (HPFH) condition were subjected to amplification of a 1.214 kbp DNA fragment from β-globin gene using polymerase chain reaction (PCR). The aim of this study was to identify the type of HPFH i.e. deletional or non deletional. Non deletional type of HPFH was identified in two samples and moreover, these samples were found to be associated with 619bp β°-thalassemia deletion. This is the first report on the association of non deletional HPFH with 619bp β°-thalassemia deletion.  相似文献   
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Hemoglobin E (beta-26Glutamic acid→Lysine) is the second most prevalent hemoglobin variant in the world. 293 blood samples from cases referred from several hospitals in the region of Andhra Pradesh were screened for the detection of hemoglobinopathies. Four samples were found to be in heterozygous state for Hb E condition. Mutation in two of these heterozygotes was analysed using a 722 base pair (bp) amplified DNA fragment from beta-globin gene and restriction enzyme Mnl 1. A 232bp DNA fragment was found to be associated with the Hb E mutation.  相似文献   
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The response of the UK Government to the Report on science publishing by the Science and Technology Select Committee of the House of Commons is criticized for failing to take the necessary action to research or help catalyse a change in the publishing model. The initiatives of the National Institutes of Health and the Wellcome Foundation in setting up central archives are examined and their utility questioned. The evidence base for a change to open access is explored.  相似文献   
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With a view to gain an insight into the regulation of calcium activated neutral protease by its endogenous inhibitor, the inhibitor was quantitated in platelets and lymphocytes of Duchenne muscular dystrophy patients and controls by dot immunoblot procedure using polyclonal antibodies against the inhibitor. A two fold increase in inhibitor levels was observed in lymphocytes but no significant increase in inhibitor levels in platelets from Duchenne muscular dystrophy. These results suggest that different regulatory mechanisms of modulation of CANP operate in these two cell types in Duchenne muscular dystrophy.  相似文献   
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The efficacy of two intragenic polymorphic markers of factor VIII gene has been examined in Andhra Pradesh population with a view to confirm/revise the strategy for carrier detection that would be precise and economical. The haemophilia A carrier was detected using Bcl I and Xba I polymorphic sites in intron 18 and 22 respectively. The cumulative efficiency of these two sites for detection of carriers is 100% since all 15 families tested were informative for one of these polymorphisms, thus confirming their usefulness for factor VIII gene mutations found in Andhra Pradesh.  相似文献   
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