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

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

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(P<0.000 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(P<0.000 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.

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 JAK2V617 F 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.