Prenatal Diagnosis of Dystrophin Gene Mutations using Multiplex Ligation Dependent Probe Amplification (MLPA) for Duchene Muscular Dystrophy
نویسندگان
چکیده
منابع مشابه
Use 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 کاملcan we rely on the multiplex ligation-dependent probe amplification method (mlpa) for prenatal diagnosis?
background: the major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, x and y. because multiplex ligation-dependent probe amplification (mlpa) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. objective: to evaluate the sensitiv...
متن کاملApplications 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 کاملImproved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.
Mutation detection in the DMD gene defective in Duchenne (DMD) and Becker muscular dystrophies (BMD) is complicated by the presence of 79 exons. The majority of recognized mutations are, however, copy number changes of individual exons, which traditionally have been identified by three common multiplex polymerase chain reaction (PCR) assays and/or Southern blotting. Here we report the use of th...
متن کاملCan we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?
BACKGROUND The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. OBJECTIVE To evaluate the sensitivi...
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ژورنال
عنوان ژورنال: Biomedical Journal of Scientific & Technical Research
سال: 2018
ISSN: 2574-1241
DOI: 10.26717/bjstr.2018.12.002251