Genetic Diagnosis of Duchenne and Becker Muscular Dystrophy using Multiplex Ligation-Dependent Probe Amplification in Rwandan Patients
نویسندگان
چکیده
منابع مشابه
Applications of multiplex ligation-dependent probe amplification (MLPA) method in diagnosis of cancer and genetic disorders
Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAP...
متن کاملMultiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) (OMIM: 310200) is one of the most commonly inherited neuromuscular diseases, affecting 1 in 3500 males. It is an X-linked disorder caused by mutations in the DMD gene (1) which is composed of 79 exons encoding a 14-kb mRNA (2). Mutations altering the reading frame cause the severe phenotype of DMD, whereas mutations retaining the full-length mRNA cause the more...
متن کاملUse of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.
BACKGROUND & OBJECTIVES Duchenne (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders, caused by mutations in the dystrophin gene. Genetic diagnosis of the proband becomes crucial, and forms the base for carrier analysis, genetic counselling, prediction of natural history and prognosis, and eligibility for therapeutic strategies. Traditional multiplex PCR assay is the comm...
متن کاملDuchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort
BACKGROUND AND PURPOSE Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. METHODS A retrospective genotype-phen...
متن کاملMultiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disorders caused due to mutation in dystrophin gene, leading to progressive muscle weakness. This study was done to identify mutation in dystrophin gene in Nepalese patients with DMD using Multiplex Ligation Dependent Probe Amplification (MLPA) assay in Nepal. Twenty one patients from different regions of Nepal, who were clin...
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ژورنال
عنوان ژورنال: Journal of Tropical Pediatrics
سال: 2013
ISSN: 0142-6338,1465-3664
DOI: 10.1093/tropej/fmt090