Evaluation of methods for detection of NPM1 gene mutations in acute myeloid leukemia / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 999-1004, 2011.
Artículo
en Chino
| WPRIM
| ID: wpr-261942
ABSTRACT
The purpose of this study was to establish real-time based methods for detection of NPM1 gene mutation in acute myeloid leukemia (AML). Primers/probes were designed according to the clustered region of NPM1 mutations on exon 12. Two real-time PCR assays, including high resolution melting curve (HRM) and allele-specific PCR (AS-PCR), were developed and clinically evaluated with 89 AML samples, which were parallelly detected by capillary electrophoresis (CE) and sequencing. The results showed that a total of 17 mutation-positive samples were detected, including type A (15 cases), type B (1 case) and type Nm (1 case). HRM assay could detect all mutant types, and the analytical sensitivity was around 5%. In contrast, AS-PCR assay detected only 95% mutant types, but its sensitivity was as high as 0.01%. It is concluded that considering the characteristics of each method as well as the clinical evaluation results, HRM may be used for screening of NPM1 mutations at diagnosis, while the AS-PCR can be used for the MRD quantification during follow-up.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Plásmidos
/
Análisis Mutacional de ADN
/
Proteínas Nucleares
/
Leucemia Mieloide Aguda
/
Reacción en Cadena de la Polimerasa
/
Sensibilidad y Especificidad
/
Genoma
/
Neoplasia Residual
/
Electroforesis Capilar
/
Diagnóstico
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Journal of Experimental Hematology
Año:
2011
Tipo del documento:
Artículo
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