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Journals / Türk Biyokimya Dergisi / 2014 / Cilt: 39 - Sayı: 1

The frequency of JAK2 V617F gen mutation and its associations with whole blood count parameters

JAK 2 V617F gen mutasyon sıklığı ve tam kan sayımı parametreleri ile ilişkisi

Kübranur ÜNAL
Serpil ERDOĞAN
Fatma Meriç YILMAZ
Pages
93–98
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

Age, RDW and PLT levels were significantly higher in mutation positive group (p

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: V617F mutation of Janus kinase (JAK2) gene is used in the diagnosis of BCR-ABL negative myeloproliferative diseases such as polycytemia vera, essential thrombocythemia and primary myelofibrosis.
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Key Findings & Data:In this study, we evaluated the frequency of JAK2 V617F mutation in a group of Turkish individuals and its association with whole blood count parameters.Methods: We retrospectively reviewed the records of 201 patients (174 males and 27 females) who were tested for JAK2 V617F mutation from January 2012 to December 2012.
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Conclusion & Impact:Age, RDW and PLT levels were significantly higher in mutation positive group (p
🔬Design:Review & Systematic Survey
📍Scope:2012 · 201 samples
⚙️Variables:Domain Parameters

Abstract

Objective: V617F mutation of Janus kinase (JAK2) gene is used in the diagnosis of BCR-ABL negative myeloproliferative diseases such as polycytemia vera, essential thrombocythemia and primary myelofibrosis. In this study, we evaluated the frequency of JAK2 V617F mutation in a group of Turkish individuals and its association with whole blood count parameters.Methods: We retrospectively reviewed the records of 201 patients (174 males and 27 females) who were tested for JAK2 V617F mutation from January 2012 to December 2012. JAK2V617F mutation, BCR-ABL mutation, level of white blood cell count (WBC), red blood cell count (RBC), platelet count (PLT), red blood cell distribution width (RDW), hemoglobin (Hb), hematocrit (Hct), level of iron, iron binding capacity and demographic data of patients were also noted. A commercial kit assay for the identification of V617F mutation based on real time-polymerase chain reaction had been used to investigate mutation of the JAK2 gene.Results: 14.9 % of the 201 samples being investigated for JAK2 V617F mutation were positive. Patients who were ordered for JAK2 V617F mutation testing were divided into two groups according to mutation being positive and negative. Age, RDW and PLT levels were significantly higher in mutation positive group (p

Özet

Amaç: Janus Kinaz 2 (JAK2) geninin V617F mutasyonu; polisitemi vera (PV), esansiyel trombositoz (ET) ve primer miyelofibrozis (PMF) gibi BCR-ABL negatif myeloproliferatif hastalıkların (MPD) tanısında kullanılır. Biz de bu çalışmamızda Türkiye'nin pek çok yerinden hastanemize başvurup JAK2 V617F mutasyonu bakılan hastalarda mutasyonun görülme sıklığını ve mutasyonun bazı hematolojik parametreler üzerine etkisini araştırmayı planladık.Yöntemler: Ocak-Aralık 2012 tarihleri arasında JAK2 V617F mutasyonu istemi yapılan 201 hastanın (174 erkek, 27 kadın) laboratuvar sonuçları retrospektif olarak incelendi. JAK2 V617F mutasyonu, BCR-ABL mutasyonu, lökosit (WBC), eritrosit (RBC), trombosit (PLT), eritrosit dağılım genişliği (RDW), hemoglobin (Hb), hematokrit (Hct) seviyeleri, demir düzeyleri, demir bağlama kapasitesi (Dbk) ve hastaların demografik verileri kaydedildi. JAK2 genindeki mutasyonu araştırmak için gerçek zamanlı polimeraz zincir reaksiyonuna dayanan V617F mutasyonu ticari kiti kullanıldı.Bulgular: Laboratuvarımızda çalışılan 201 hastanın JAK2 V617F mutasyonu %14.9 pozitif idi. JAK2 V617F mutasyonu istemi olan hastalar, JAK2 V617F mutasyonu pozitif ve negatif olmasına göre iki gruba ayrıldı. Bu iki grup arasında yaş, RDW ve PLT değerleri mutasyon pozitif grupta anlamlı olarak daha yüksekti (p

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Cite This Article

ÜNAL, K., ERDOĞAN, S., YILMAZ, F. M. (2022). The frequency of JAK2 V617F gen mutation and its associations with whole blood count parameters. Türk Biyokimya Dergisi, Cilt: 39 - Sayı: 1, 93–98. https://ajindex.com/articles/621215

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