Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.
Artigo
em Inglês
| IMSEAR
| ID: sea-137368
ABSTRACT
Background & objectives:
Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allelespecific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes.Methods:
A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR.Results:
The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method. Interpretation &conclusions:
Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
Atrofia Muscular Espinal
/
Criança
/
Reação em Cadeia da Polimerase
/
Éxons
/
Adolescente
/
Custos de Cuidados de Saúde
/
Deleção de Sequência
Tipo de estudo:
Estudo diagnóstico
/
Avaliação Econômica em Saúde
/
Estudo de rastreamento
Idioma:
Inglês
Ano de publicação:
2012
Tipo de documento:
Artigo
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