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Direct Diagnosis of Carriers of Duchenne & Becker Muscular Dystrophy by Amplification of Lymphocyte RNA Roberts. R. G. , et al, Lancet 336:1523-1526., , 1990 See this aricle in Pubmed Article Abstract Rapid detection of deletion and duplication mutations that cause Duchenne and Becker muscular dystrophy was achieved in patients and carriers after amplification of small amounts of mRNA from peripheral blood lymphocytes. The entire coding region of the dystrophin mRNA was amplified in 10 sections by reverse transcription and nested polymerase chain reaction,and the products were directly visualized on acrylamide minigels with ethidium staining.Major structural gene mutations were identified by the appearance of a band of different size to that of the wild type.The altered band was readily detected in all patients and heterozygous relatives.This nonradioactive test of venous blood samples can be used for unambiguous and rapid identification of virtually all carriers of deletions or insertions within the dystrophin gene.

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(click to filter results - removes previous filter) dystrophin muscular dystrophy muscular dystrophy,Becker muscular dystrophy,Becker,carrier muscular dystrophy,Duchenne muscular dystrophy,Duchenne,carrier neurologic disease,diagnoses of polymerase chain reaction

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