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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Double-Blind Method
/
Sensitivity and Specificity
/
Alleles
/
Janus Kinase 2
/
Real-Time Polymerase Chain Reaction
/
Genetics
/
Mutation
/
Myeloproliferative Disorders
Type of study:
Controlled clinical trial
/
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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