关键词: JAK2基因单倍型46/1, 中国人群, JAK2V617F, 骨髓增殖性肿瘤, 等位基因特异性PCR

Abstract:

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.

Key words: JAK2 gene haplotype 46/1, Chinese population, JAK2V617F, myeloproliferative neoplasms (MPNs), allele specific PCR (ASP)