Abstract
Bachground: Jak2 V617F and CARLmutation arerecognized as essential molecular genetic markers in diagnostic definition of myeloid proliferative neoplasm (MPN).
Objective: To establish an income relevant Allele-specific-PCR-ARMS (DSA-PCR-ARMS) assays to identify Jak2 V617F, CARL mutations in MPN patients.
Subjects: 64 MPN patients’ samples, one V617F positive referrance samples and one CALR mutant positive sample.
Methods: Dilution series of 100%, 50%, 25%, 5%, 0.5% and 0% mutant alleles were created as pseudo-samples establish the detection limits and the technical specificity of DSA-PCR-ARMS assays in identifying the mentioned genetics markers.
Result: Our approach can detect presence of 0.5 % V617F mutant DNA fragment; beside that just by one gel-based PCR reaction, we can differentiate the deletion/insertion CARL carriers from the wild
type counterpart. By applying our approachesto a study cohort of 50 MPN cases, a sensitivity of 64% and specificity of 100% was recorded for our Jak2 C617F detection assay and we also detected 3 CARL mutation case amongst the 10 V617F negative cases.
Conclusion: The in-house of Jak2 V617F/CARL mutation detection protocols have been successfully established in our hospital.
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| Published | 20-02-2020 | |
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| Issue | No. 59 (2020) | |
| Section | Original article | |
| DOI | 10.38103/jcmhch.2020.59.8 | |
| Keywords | Jak2 V617F, CARL, hội chứng tăng sản tủy (MPN) Jak2 V617F, CARL, myeloid proliferative neoplasm (MPN). |
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