Objective： JAK2 V617F, MPL W515L and JAK2 exon 12 mutations are novel acquired mutations that induce constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders （MPD）. The d...Objective： JAK2 V617F, MPL W515L and JAK2 exon 12 mutations are novel acquired mutations that induce constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders （MPD）. The discovery of these mutations provides novel mechanism for activation of signal transduction in hematopoietic malignancies. This research was to investigate their prevalence in Chinese patients with primary myelofibrosis （PMF）. Methods： We introduced allele-specific PCR （AS-PCR） combined with sequence analysis to simultaneously screen JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in 30 patients with PMF. Results： Fifteen PMF patients （50.0%） carried JAK2 V617F mutation, and only two JAK2 V617F-negative patients （6.7%） harbored MPL W515L mutation. None had JAK2 exon 12 mutations. Furthermore, these three mutations were not detected in 50 healthy controls. Conclusion： MPL W515L and JAK2 V617F mutations existed in PMF patients but JAK2 exon 12 mutations not. JAK2 V617F and MPL W515L and mutations might contribute to the primary molecular pathogenesis in patients with PMF.展开更多
采用PCR-SSCP技术分析了小尾寒羊肌细胞生成素Myo G基因外显子2和生肌决定基因Myo D 5'侧翼区的多态性,结果表明:Myo D 5'侧翼区在小尾寒羊中检测到2种基因型(BB、AB),BB和AB基因型频率分别为0.975 0和0.025 0,A和B等位基因频...采用PCR-SSCP技术分析了小尾寒羊肌细胞生成素Myo G基因外显子2和生肌决定基因Myo D 5'侧翼区的多态性,结果表明:Myo D 5'侧翼区在小尾寒羊中检测到2种基因型(BB、AB),BB和AB基因型频率分别为0.975 0和0.025 0,A和B等位基因频率分别为0.012 5和0.987 5;小尾寒羊的Myo G外显子2不存在多态性。对Myo D 5'侧翼区的BB基因型测序分析发现,其与牛的Myo D1基因序列(XM_592330.2)相比,发生了2处突变,分别是第960位发生了T→C突变、第972位发生了C→A突变。展开更多
文摘Objective： JAK2 V617F, MPL W515L and JAK2 exon 12 mutations are novel acquired mutations that induce constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders （MPD）. The discovery of these mutations provides novel mechanism for activation of signal transduction in hematopoietic malignancies. This research was to investigate their prevalence in Chinese patients with primary myelofibrosis （PMF）. Methods： We introduced allele-specific PCR （AS-PCR） combined with sequence analysis to simultaneously screen JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in 30 patients with PMF. Results： Fifteen PMF patients （50.0%） carried JAK2 V617F mutation, and only two JAK2 V617F-negative patients （6.7%） harbored MPL W515L mutation. None had JAK2 exon 12 mutations. Furthermore, these three mutations were not detected in 50 healthy controls. Conclusion： MPL W515L and JAK2 V617F mutations existed in PMF patients but JAK2 exon 12 mutations not. JAK2 V617F and MPL W515L and mutations might contribute to the primary molecular pathogenesis in patients with PMF.
文摘采用PCR-SSCP技术分析了小尾寒羊肌细胞生成素Myo G基因外显子2和生肌决定基因Myo D 5'侧翼区的多态性,结果表明:Myo D 5'侧翼区在小尾寒羊中检测到2种基因型(BB、AB),BB和AB基因型频率分别为0.975 0和0.025 0,A和B等位基因频率分别为0.012 5和0.987 5;小尾寒羊的Myo G外显子2不存在多态性。对Myo D 5'侧翼区的BB基因型测序分析发现,其与牛的Myo D1基因序列(XM_592330.2)相比,发生了2处突变,分别是第960位发生了T→C突变、第972位发生了C→A突变。
