No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation.
作者： Jyh-Pyng Gau , Chih-Cheng Chen , Yi-Sheng Chou , Chia-Jen Liu , Yuan-Bin Yu
DOI: 10.1016/J.BCMD.2015.03.009
关键词:
摘要: The true frequency of the JAK2 46/1 haplotype in patients myeloproliferative neoplasms (MPN) with CALR mutations was unknown. Totally 187 MPN cases diagnosis polycythemia vera (PV) and essential thrombocythemia (ET) were recruited. significantly higher JAK2V617F-positive PV (51%, p < 0.001) ET (41%, = 0.005) compared to normal controls. exact location JAK2V617F mutation located at cis-46/1 86.4% (32/37) 87.5% (28/32) patients, respectively. Among 51 without mutation, 38 (75%) harbored 3 had MPL mutation. 27%, which is not different from that control (p value 0.879). Compared non-46/1 haplotype, presence a trend have white blood cell count JAK2V617F-mutated but CALR-mutated ET. We conclude could functioning effect only context
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