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Establishment of a system for rapid detection of JAK2 V617F mutation in myeloproliferative diseases / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 980-984, 2019.
Artigo em Chinês | WPRIM | ID: wpr-776763
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.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Análise Mutacional de DNA / Método Duplo-Cego / Sensibilidade e Especificidade / Alelos / Janus Quinase 2 / Reação em Cadeia da Polimerase em Tempo Real / Genética / Mutação / Transtornos Mieloproliferativos Tipo de estudo: Ensaio Clínico Controlado / Estudo diagnóstico Limite: Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Análise Mutacional de DNA / Método Duplo-Cego / Sensibilidade e Especificidade / Alelos / Janus Quinase 2 / Reação em Cadeia da Polimerase em Tempo Real / Genética / Mutação / Transtornos Mieloproliferativos Tipo de estudo: Ensaio Clínico Controlado / Estudo diagnóstico Limite: Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Artigo