Detection of dystrophin gene deletions and pattern of deletion distribution in Vietnamese Duchenne Muscular Dystrophy (DMD) patients

ABSTRACT

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'