1.Detection of dystrophin gene deletions and pattern of deletion distribution in Vietnamese Duchenne Muscular Dystrophy (DMD) patients
Journal of Medical Research 2008;0(1):33-38
Background/Introduction: DMD is an X\u2013link recessive genetic disease, caused by the dystrophin gene mutation and gene deletion is the most common.\r\n', u'Objectives: Determine the ratio of deletion mutation of dystrophin gene and research the deletion distribution in Vietnamese DMD patients. \r\n', u'Subjects and methods: There are two groups of research Subjects. One group includes two men who have no familial history of DMD. The other includes 62 male patients gathered during 2003 \u2013 2006. The study used multiplex PCR with 19 primer pairs in order to amplify 18 exon and region muscular promoter (Pm) of dystrophin gene for those 62 DMD male patients. Exon deletions are detected by electrophoresis of PCR products.\r\n', u'Results/Outcomes: We found dystrophin gene deletions in 32 cases amongst 62 DMD patients (51.6%). The deletion proportions of DMD patients with clear and unclear familial history are 52.9% and 51.1% respectively. Deletion distribution were clustered in the two \u201chot-spots\u201d regions: region from exon 44 \u2013 52 (89,3%); region the end 5\u2019 (from exon 3-19 and Pm) more rarely (10.7%).\r\n', u'Conclusion: The proportion of dystropin gene deletion in the 62 DMD patients is 51.6%; with familial history of DMD is 52.9%, and without familial history of DMD is 51.1%. \r\n', u'
Duchenne Muscular Dystrophy (DMD)
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Dytrophin Gene Deletion
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Polymerase chain
2.Repeating exon 2 mutation caused by trans-splicing dystrophin gene in Duchenne muscular dystrophin (DMD) patient
Journal of Medical Research 2005;34(2):12-16
The dystrophin gene is the largest human gene. Mutations in this gene cause Duchenne muscular dystrophin (DMD) disease. This is complex genomic unit exhibiting many errors splicing during mRNA process. More than 10 alternative splicing products have been identified in the 5' region of the dystrophin gene. In this study, two dystrophin transcripts including one containing exon 2 and exon X duplications, other one containing single exon 2 duplication were identified in peripheral blood lymphocytes of DMD case. Interestingly, genomic Southern blot analysis ruled out the hypothesis of duplication of dystrophin at exon 2. Therefore, these data suggested that exon 2 duplication transcripts were likely generated by trans-splicing event that occurring during the mARN maturation in which RNA segments of two independent transcripts are spliced together to generate a new mRNA species. However, the mechanisms modulating the trans-splicing activity of the dystrophin exon 2 remain to be clarified.
Muscular Dystrophy, Duchenne, Dystrophin, Genes, DMD protein, human