Expanded molecular detection of MPL codon p.W515 and p.S505N mutations in myeloproliferative neoplasms.

ABSTRACT:

Background

Patients negative for the JAK2 p.V617F somatic variant are frequently reflexed to testing for MPL exon 10 variants. Detection of these variants via multiplexed allele-specific PCR followed by fragment analysis has been previously published. The present study builds on this concept by improving the detection of the p.W515A variant, adding a second allele-specific primer to detect the p.W515R variant, and incorporating an improved primer for p.S505N detection.

Methods

The W515 amplification employs 5'-labeled allele-specific forward primers to detect p.W515K, p.W515L, p.W515R, and p.W515A. The p.S505N amplification includes an allele-specific reverse primer with a tail extension. Fragments were subject to capillary electrophoresis on an ABI 3500 Genetic Analyzer and

SUBMITTER: Miller EW 

PROVIDER: S-EPMC10756946 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature