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Expanded molecular detection of MPL codon p.W515 and p.S505N mutations in myeloproliferative neoplasms
Journal of Clinical Laboratory Analysis ( IF 2.7 ) Pub Date : 2023-12-07 , DOI: 10.1002/jcla.24992
Eric W. Miller 1 , Celeste M. Lamberson 1 , Ratilal R. Akabari 1 , Michel R. Nasr 1 , Steven M. Sperber 1
Affiliation  

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.

中文翻译:

骨髓增生性肿瘤中 MPL 密码子 p.W515 和 p.S505N 突变的扩展分子检测

JAK2 p.V617F 体细胞变异呈阴性的患者经常会反射性地检测MPL外显子 10 变异。先前已发表通过多重等位基因特异性 PCR 检测这些变异,然后进行片段分析。本研究基于这一概念,改进了 p.W515A 变体的检测,添加了第二个等位基因特异性引物来检测 p.W515R 变体,并纳入了用于 p.S505N 检测的改进引物。
更新日期:2023-12-07
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