Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 699-704, 2011.
Article
em Zh
| WPRIM
| ID: wpr-295550
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To clarify advantages and disadvantages of using multiplex ligation-dependent probe amplification (MLPA) for detecting exonic deletions and duplications of the Dystrophin gene, and to explore the appropriate management for single-exon abnormality detected by MLPA.</p><p><b>METHODS</b>MLPA were performed to detect exonic copy number changes in 70 Duchenne/Becker muscular dystrophy (DMD/BMD) patients diagnosed by clinical and histological findings. PCR, DNA sequencing and real-time PCR were applied to the samples in which MLPA indicated single-exon deletion or duplication.</p><p><b>RESULTS</b>Of all 70 patients, MLPA detected exonic deletions in 42 (60%), including 12 with single-exon deletion and one with ambiguous single-exon deletion. Exon duplications were found in 7 patients (10%), among which two were single-exon duplication. 21 patients showed normal results (30%). For the 12 patients with single-exon deletion, MLPA results were confirmed by PCR in 11. In one patient, a deletion of two nucleotides (c.4470-4471delAA) was found by sequencing. A novel two-nucleotide deletion (c.4746-4747delCT) was identified in the patient with the ambiguous single-exon deletion. For the two patients showed single-exon duplication, MLPA results were confirmed by real-time PCR.</p><p><b>CONCLUSION</b>MLPA should be the first choice in detecting Dystrophin gene exon deletions and duplications. Single-exon deletion/duplication resulted from MLPA should be further evaluated by other methods.</p>
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Índice:
WPRIM
Assunto principal:
Análise Mutacional de DNA
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Sequência de Bases
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Éxons
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Distrofina
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Deleção de Genes
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Duplicação Gênica
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Técnicas de Amplificação de Ácido Nucleico
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Variações do Número de Cópias de DNA
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Genética
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Métodos
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Article