Establishment of a system for rapid detection of JAK2 V617F mutation in myeloproliferative diseases
10.3760/cma.j.issn.1003-9406.2019.10.007
- VernacularTitle: 骨髓增生疾病JAK2 V617F突变快速检测体系的建立
- Author:
Qiang ZHANG
1
;
Yijia ZHANG
2
;
Xiangmin XU
2
;
Wanjun ZHOU
1
;
Xin FAN
1
Author Information
1. Central Laboratory for Inborn Error of Metabolism, Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China
2. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, China
- Publication Type:Journal Article
- Keywords:
Myeloproliferative neoplasm;
Genetic mutation;
TagMan probe;
Carrier rate
- From:
Chinese Journal of Medical Genetics
2019;36(10):980-984
- CountryChina
- Language:Chinese
-
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.
