A Preliminary study towards carrier detection in duchenne muscular dystrophy (DMD) using DNA based techniques
| dc.contributor.author | YASARATNE, SE | en_US |
| dc.date.accessioned | 2011-02-14T15:15:17Z | |
| dc.date.available | 2011-02-14T15:15:17Z | |
| dc.date.created | 1988 | en_US |
| dc.date.issued | 1988 | en_US |
| dc.description | Dissertation: M.Sc., University of Colombo: UC(MED), 1988. | en_US |
| dc.description.abstract | Duchenne muscular dystrophy (DMD) is a X linked recessive muscle disorder which affects about 1 in 3500 males. The first synptoms appear by the timne the affected boys begin to walk. They are wheel-chair bound by the age of ten, and usually die before reaching the age of twenty. This genetically lethal disorder, is transmitted by carrier females who rarely show any clinical manifestations of the disease. The diagnosis of DMD, is presently based on clinical features, supported by electromyography (EMG), muscle biopsy and serum Creatine Kinase (CK) assays. This approach however is unsatisfactory in the detection of female carriers, as serum CK determination has been found to display both variability and overlap between normal women and carriers of the disease. Therefore, the results of these investigations have proved to be inconclusive. The present study deals with the application of recombinant DNA techniques previously not available in Sri Lanka, in the detection of DMD carriers. The inheritance of DMD has been studied in 14 families with X chromosome specific cloned DNA sequences detecting Restricition Fragment Length Polymorphisms (RFLPs) within and flanking, the DMD locus. The results have been used to identify RFLPs associated with the disease, in these families. Although not conclusive, these results have revealed preliminary indications on the carrier status of several female family members. | en_US |
| dc.identifier.citation | YASARATNE, SE, A Preliminary study towards carrier detection in duchenne muscular dystrophy (DMD) using DNA based techniques, University of Colombo UC(MED), 1988: viii,126p. | en_US |
| dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/129476 | |
| dc.language.iso | en_US | en_US |
| dc.publisher | University of Colombo: UC(MED). | en_US |
| dc.rights | University of Colombo, UC(MED): Sri Lanka HELLIS Network | en_US |
| dc.source.uri | https://hellis.srilanka.healthrepository.org | en_US |
| dc.subject | Muscular dystrophies | en_US |
| dc.subject.mesh | Muscular Dystrophy, Duchenne | en_US |
| dc.subject.mesh | Muscular Dystrophy, Duchenne-genetics | en_US |
| dc.subject.mesh | DNA-genetics | en_US |
| dc.subject.mesh | Muscular Dystrophy, Duchenne-diagnosis | en_US |
| dc.title | A Preliminary study towards carrier detection in duchenne muscular dystrophy (DMD) using DNA based techniques | en_US |
| dc.type | Thesis | en_US |