Deletions and duplications in the factor VIII gene identified using multiplex ligation-dependent probe amplification
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چکیده
منابع مشابه
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).
OBJECTIVES To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. DESIGN AND METHODS The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne mu...
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 کاملMUTATION REPORT Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
A De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, I Torrente, A Schirinzi, B Dallapiccola . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملDeletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high-performance liquid chromatography or protein truncation test, to be heterozygous for intragenic NF1 point mutations/deletions/insertions, a...
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...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2011
ISSN: 1538-7933
DOI: 10.1111/j.1538-7836.2010.04165.x