Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 386-391, 2008.
Artigo
em Coreano
| WPRIM
| ID: wpr-39341
ABSTRACT
BACKGROUND:
Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness of dual priming oligonucleotide multiplex PCR (DPO PCR) in detection of exon deletions of DMD gene.METHODS:
Thirty-seven DMD or BMD patients who had known exon deletions detected by conventional multiplex PCR (conventional PCR) and nine control subjects were enrolled in this study. When a discrepancy was shown between the results of conventional PCR and DPO PCR, the multiplex ligation-dependent probe amplification (MLPA) technique was performed as a confirmation test.RESULTS:
The same deletions previously identified by conventional PCR in 32 out of 37 subjects were also detected by DPO PCR. For the five subjects (13.5%) showing discrepant results between the conventional PCR and DPO PCR, MLPA was performed and its results were found to correlate better with those of DPO PCR. The discrepancies were due to false positive or false negative results of the conventional PCR.CONCLUSIONS:
DPO PCR shows a high agreement of results with the conventional PCR and is considered an adequate method to be used as a primary genetic test for the diagnosis of DMD. Because of an improved accuracy, especially for determining the boundaries of DMD gene deletions, DPO PCR can be very useful as a supplement to the conventional PCR.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Kit de Reagentes para Diagnóstico
/
Análise Mutacional de DNA
/
Sondas de Oligonucleotídeos
/
Testes Genéticos
/
Reação em Cadeia da Polimerase
/
Reprodutibilidade dos Testes
/
Distrofina
/
Deleção de Genes
/
Primers do DNA
/
Distrofia Muscular de Duchenne
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
The Korean Journal of Laboratory Medicine
Ano de publicação:
2008
Tipo de documento:
Artigo
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