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-796461
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Ensaio Clínico Controlado
/
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS