Identification of deletion/duplication mutations in DMD gene by multiple ligation probe amplification and denaturing high-performance liquid chromatography / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 83-86, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-230027
ABSTRACT
<p><b>OBJECTIVE</b>To compare the effectiveness of using multiple ligation probe amplification (MLPA) and denaturing high-performance liquid chromatography (DHPLC) in screening the exon deletions and duplications of the DMD gene.</p><p><b>METHODS</b>MLPA technique was applied to detect exon deletions and duplications previously confirmed by denaturing high-performance liquid chromatography (DHPLC).</p><p><b>RESULTS</b>From October 2004 to October 2005, 22 unrelated DMD probands and their possible female relatives with clinical diagnosis with dystrophinopathy at our hospital entered this study. Both DHPLC and MPLA detected DMD gene depletion in 11 probands and DMD duplications in 3 probands. MLPA detected deletions and duplications in 2 probands, which were not detected by DHPLC. MLPA also successfully identified the carriage status of the potential female carriers of the probands.</p><p><b>CONCLUSION</b>Compared with DHPLC and traditional PCR techniques, MLPA is a superior tool to analyze the deletions and duplications in affected males as well as in the identification of the carriage status of potential females carriers.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromatografia Líquida de Alta Pressão
/
Deleção de Genes
/
Predisposição Genética para Doença
/
Duplicação Gênica
/
Distrofia Muscular de Duchenne
/
Técnicas de Amplificação de Ácido Nucleico
/
Genética
/
Métodos
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2007
Tipo de documento:
Artigo
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