Establishment of a system for rapid detection of JAK2 V617F mutation in myeloproliferative diseases / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 980-984, 2019.
Article
en Zh
| WPRIM
| ID: wpr-776763
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To develop a system for rapid detection of JAK2 V617F mutation among patients with myeloproliferative diseases.@*METHODS@#Specific primers and TagMan probes were designed for the mutant and wild type alleles based on the principle of real-time PCR. A complete system including the method for detection and product for quality control were established through the evaluation of sensitivity and accuracy of the method, double-blind trial, and preparation of negative and positive controls through site-directed mutagenesis and molecular cloning.@*RESULTS@#A system for rapid detection of the JAK V617F mutation has been developed. Compared with Sanger sequencing, the sensitivity and specificity of the method have both reached 100%. Meanwhile, 1000 normal samples and 1 case with the JAK2 V617F mutation were detected, which gave a population rate of 1‰.@*CONCLUSION@#The system was fast, accurate, cheap, high throughput, and easy to use. It can be utilized as a routine test. Although the JAK2 V617F mutation is rare in the population, it should be screened among myeloproliferative neoplasm patients.
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Base de datos:
WPRIM
Asunto principal:
Análisis Mutacional de ADN
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Método Doble Ciego
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Sensibilidad y Especificidad
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Alelos
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Janus Quinasa 2
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Reacción en Cadena en Tiempo Real de la Polimerasa
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Genética
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Mutación
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Trastornos Mieloproliferativos
Tipo de estudio:
Clinical_trials
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Diagnostic_studies
Límite:
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2019
Tipo del documento:
Article