Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction
| Autor: | Ulf Pettersson, Rohan W. Jayasekara, Claes Wadelius, J. Welihinda, Eric H. Karunanayake, J. B. Peiris |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
musculoskeletal diseases
Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Duchenne muscular dystrophy 030231 tropical medicine Common gene Polymerase Chain Reaction Muscular Dystrophies law.invention 03 medical and health sciences 0302 clinical medicine law 030225 pediatrics medicine Humans Multiplex Myopathy Polymerase chain reaction Sri Lanka business.industry Gene Amplification medicine.disease Dna amplification Molecular biology nervous system diseases Dmd gene Pediatrics Perinatology and Child Health Sri lanka medicine.symptom business Gene Deletion |
| Zdroj: | Annals of tropical paediatrics. 13(1) |
| ISSN: | 0272-4936 |
| Popis: | Duchenne muscular dystrophy (DMD) is an X-chromosome-linked myopathy caused by a defect in the DMD gene. Intragenic deletions appear to be the most common gene defect leading to DMD, and the deletion frequency has been estimated to be 66%. Results of this study using a group of 24 DMD patients of Sri Lankan origin employing the technique of multiplex DNA amplification using the polymerase chain reaction indicated a deletion frequency of 62.5%. Eighty per cent of these deletions were localized in a region of the DMD gene regarded as a 'hot spot' for DMD deletions. Our results are in agreement with the results of other studies carried out on Caucasian populations. |
| Databáze: | OpenAIRE |
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