JAK2基因单倍型46/1对中国人群骨髓增殖性肿瘤易感性的影响

从91例骨髓增殖性肿瘤(MPNs)患者及1 028例健康志愿者(均为中国人)外周血中提取基因组DNA,应用等位基因特异性PCR(ASP)技术,检测作为蛋白质酪氨酸激酶JAK2单倍型46/1标签的rs12343867和rs10974944位点的基因型,并结合临床资料,应用SNPstats软件进行统计学分析.实验结果表明:MPNs患者JAK2单倍型46/1出现的几率明显高于健康志愿者(P0.000 1);MPNs患者的JAK2单倍型46/1更易在JAK2V617F突变阳性MPNs患者(n=70)中出现(P0.000 1);具有JAK2单倍型46/1的中国人群患MPNs的风险增加显著,该结果与测试欧美人群的结果一致.

Effect of JAK2 Gene Haplotype 46/1 on Susceptibility toMyeloproliferative Neoplasms in Chinese Population

Genomic DNA was extracted from peripheral blood of 91 patients with myeloproliferative neoplasms (MPNs) and 1 028 healthy volunteers (both Chinese). Using allele specific PCR (ASP) technique, we detected the genotype of rs12343867 and rs10974944 loci of the JAK2 haplotype 46/1 as protein tyrosine
kinase. And combined with clinical data, we used SNPstats software for statistical analysis. Experimental results show that the probability of JAK2 haplotype 46/1 in MPNs patients was significantly higher than that in healthy volunteers (P<0.000 1); MPNs patients with JAK2 haplotype 46/1 are more likely to appear in the JAK2V617F mutation positive MPNs patients (n=70, P<0.000 1); the risk of MPNs in the Chinese population with JAK2 haplotype 46/1 is significantly increased, which is consistent with the results of the test in Europe and the United States.