Abstract: Objective To analyze the mutation allele ratio in polycythemia vera(PV) and essential thrombocythemia(ET) samples. Methods SB-ASA and real-time PCR assays were developed and performed for JAK2 V617F detection on 40 PV samples, 31 ET samples and control samples(40 acute leukemias and 40 normal samples). Difference between detection rates of the two assays was analyzed. Ratio between mutation alleles in PV and ET samples and their relevance with biological characters were also analyzed. Results More mutation positive samples were detected with real-time PCR than with SB-ASA assay. The detection rates in PV and ET were 87.5% and 51.6% with SB-ASA PCR but 92.5% and 64.5% with real-time PCR respectively. No mutation was detected in control samples. The mutation allele ratio was 0.436±0.261 in PV and 0.216±0.207 in ET respectively. Percent age of homozygous mutation in PV was 40.54% and in ET was 10%. Statistical analysis showed no relevance between mutation allele ratio and sex and age. Conclusion The JAK2 V617F mutated allele ratio is higher in PV than in ET; The ratio of homozygous mutated clone in PV is 4 times of that in ET. The pathogenesis of PV or ET has relationship with the mutation allele ratio of JAK2.

Key words: JAK 2V617F mutation, real-time PCR, polycythemia vera, essential thrombocythemia