Mutation Spectrum ofDystrophinGene in Malaysian Patients with Duchenne/Becker Muscular Dystrophy
| Autor: | Masafumi Matsuo, Abdul Qawee Mahyoob Rani, Sarina Sulong, Abdul Razak Salmi, Teguh Haryo Sasongko, David J. Bunyan, Bin Alwi Zilfalil, Z A M H Zabidi-Hussin |
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| Rok vydání: | 2013 |
| Předmět: |
Male
musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Adolescent Genotype Duchenne muscular dystrophy DNA Mutational Analysis Nonsense mutation Cohort Studies Dystrophin Cellular and Molecular Neuroscience Exon Gene duplication Genetics medicine Humans Genetic Predisposition to Disease Multiplex ligation-dependent probe amplification Muscular dystrophy Child Creatine Kinase biology business.industry Malaysia Sequence Analysis DNA medicine.disease Molecular biology Muscular Dystrophy Duchenne Child Preschool Mutation biology.protein Female business |
| Zdroj: | Journal of Neurogenetics. 27:11-15 |
| ISSN: | 1563-5260 0167-7063 |
| Popis: | We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) patients. We found 27 patients with deletions of one or more exons, 2 patients with one exon duplication, 2 patients with nucleotide deletion, and 4 patients with nonsense mutations (including 1 patient with two nonsense mutations in the same exon). Although most cases showed compliance to the reading frame rule, we found two unrelated DMD patients with an in-frame deletion of the gene. Two novel mutations have been detected in the Dystrophin gene and our results were compatible with other studies where the majority of the mutations (62.8%) are located in the distal hotspot. However, the frequency of the mutations in our patient varied as compared with those found in other populations. |
| Databáze: | OpenAIRE |
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