Investigating one case of deletion of 27 exons espanding at rod domain of dystrophin gene in a Duchenne Muscular Dystrophy

A majority deletion of 27 exons expanding from 8-34 at rod domain of dystrophic gene was identified in a Duchene Muscular Dystrophy (DMD) patients. Polymerase chain reaction (PCR) was used to analyze the deletion. The deletion caused an out of frame mutation leading to nonsense mutation which early stops code in exon 35 of dystrophic gene. The DMD gene was analyzed at both genomic DNA and mRNA levels. Identification of deletion at mRNA level is very useful for rapid diagnosis of DMD patients and avoid missing some mutations that we can’t identify at DNA level

Mutation in the Rod domain of dystrophin gene caused Duchenne muscular dystrophy disease

Analysis of gene mutation at AND degree on 2 patients with Duchenne having clinical complications: muscle weakness occurred early and progressive, enlarged leg muscles, increased CK level in peripheral blood, muscle biopsy present specific image of the disease. 19 exon were the most commonly mutated on dystrophin gene were selected to implement PCR reaction. Results showed that exon 45 had partial deletion phenomenon in all two patients while exon 44 and 48 had not this model. The patients were determined as bearing consecutive partial delete mutation of three exon 45, 46, 47 on dystrophin gene. This mutation caused incorrect coding frame

Repeating exon 2 mutation caused by trans-splicing dystrophin gene in Duchenne muscular dystrophin (DMD) patient

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.

To diagnosis 85 Duchene/Becker muscular dystrophy Vietnamese patients by Polymerase chain reaction (PCR) method

AND samples of 85 Duchenne/Becker muscular dystrophy patients treated at Department of Endocrinology, Pediatric Hopital Swede-Ha Noi were analyzed. Patients were diagnosed based on typical clinical characteristic of disease, increasing plasma CK concentration and family prehistory. The result showed that mutation is quite common, concentrating mainly at 5’ final region and central region, analyzing 19 exons among 79 exons of total dystrophin gene have been detected nearly 40% patient with mutation of wipe section. Appling PCR method to determine mutation on 19 typical exons will allow fastly and exactly diagnosis