Rapid and Sensitive Detection of Calreticulin Type 1 and 2 Mutations by Real-Time Quantitative PCR
| العنوان: | Rapid and Sensitive Detection of Calreticulin Type 1 and 2 Mutations by Real-Time Quantitative PCR |
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| المؤلفون: | Richard Reinhardt, Thomas Burmeister, Michael Zinke, Vanasa Nageswaran |
| المصدر: | Molecular Diagnosis & Therapy. 19:329-334 |
| بيانات النشر: | Springer Science and Business Media LLC, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Mutant, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Sensitivity and Specificity, Frameshift mutation, Exon, Genetics, medicine, Humans, Allele, Gene, Sequence Deletion, Pharmacology, Mutation, Myeloproliferative Disorders, biology, Essential thrombocythemia, Sequence Analysis, DNA, General Medicine, Janus Kinase 2, medicine.disease, Molecular biology, Mutagenesis, Insertional, biology.protein, Molecular Medicine, Calreticulin |
| الوصف: | The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene. These mutations are located in CALR exon 9 and lead to a frameshift with subsequent alteration of the CALR protein C-terminus. They have emerged as valuable molecular markers for the diagnosis of clonal myeloproliferative diseases. Although a variety of CALR mutations have been described, two mutations, denoted type 1 and type 2, account for around 85 % of cases. The type 1 mutation encompasses a 52 bp deletion and the type 2 mutation a 5 bp TTGTC insertion. This work describes the development and testing of quantitative real-time PCRs (qPCRs) for detecting these two mutations. The final type 1 CALR qPCR displayed a sensitivity of |
| تدمد: | 1179-2000 1177-1062 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a06d7db014d1a8244824501626f67f62Test https://doi.org/10.1007/s40291-015-0162-3Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....a06d7db014d1a8244824501626f67f62 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 11792000 11771062 |
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