JAMA Diagnostic Test Interpretation June 6, 2017 JAK2 V617F Mutation Testing in Patients Presenting With Hepatic and Portal Vein Thrombosis Charles Elliott Foucar, MD1; Brady Lee Stein, MD, MHS2 Author Affiliations JAMA. 2017;317(21):2228-2229. doi:10.1001/jama.2017.2329 ...
(WHO) diagnostic criteria for these disorders include the presence of JAK2V617F mutation as a major criterion for diagnosis.4 Although various studies have shown that JAK2 mutation testing can be successfully performed on peripheral blood (PB),1–3 bone marrow aspirate (BMA),5 or BM biopsy,6...
3,在以白细胞升高为主的患者中,JAK2V617F突变检出率低。首先应进行骨髓 常规、BCR.ABL融合基因检测。 关键词:JAK2V617F突变骨髓增殖性疾病白细胞增多血小板增多红细胞增 多 111 浙江人学硕{-q:位论文英义摘耍 To investigate JAK2V617Fmutationin
5、zyme digestion were sensitive and specific tests for JAK2V617F point mutation, and can be successfully used for clinical test. Key words Allele specific-PCR;JAK2V617F mutation;Restriction enzyme BsaX 6、; JAK2基因属JAKs(Janus kinases/Just another kinases )家族成员,是胞浆非受体性酪氨酸激酶...
JAK2V617F mutation in patients with thrombosis: to screen or not to screen? Summary Introduction: Thrombotic complications are a main concern in patients with myeloproliferative neoplasms. Recently, a gain-of-function mutation ... SG Xavier,T Gadelha,SM Rezende,... - 《International Journal ...
PCR(AS-PCR)、限制性内切酶消化方法检测JAK2V617F突变,并对 BCR/ABL阴性MPD41例和正常对照2例进行基因测序鉴定;②选 博士学位论文中文摘要 择人红白血病细胞株HEL细胞为模型,用上述三种方法检测和验证 HEL细胞模型中存在天然的JAK2V617F突变,并对HEL细胞的形 ...
JAK2V617F mutationPortal vein thrombosisMyeloproliferative diseasesIn a retrospective cohort, we investigated the presence of the JAK2V617F mutation in chronic non-cirrhotic portal vein thrombosis (PVT) patients, irrespective of the presence or absence of myeloproliferative diseases (MPDs). We identified...
This case report focuses on a 71-year old patient affected by unknown dyspnea and erythrocytosis referred by his general practitioner to our center for specialist advice after a hematological examination had excluded polycythemia vera on grounds of negative test for JAK2 V617F/exon 12 mutation. An...
A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute of valine to phenylalanine at position 617 ( JAK2 V617F) has been discovered to be prevalent in patients with mesenteric vein thrombosis and myeloproliferative disorders. This article reports a ...
结论:AS-PCR法和限制性内切酶法是检测JAK2V617F突变的敏感特异的检测方法,可以成功应用于临床检测。 【关键词】 等位基因特异性-PCR;JAK2V617F突变;限制性内切酶BsaXⅠ Abstract Objective:To establish a sensitive and specific test for JAK2V617F point mutation. Methods: Genomic DNA was isolated from HEL ...