Additional file 2.
Six SNPs of the JAK2 locus in PV patients and normal controls. Six SNPs were sequenced using allele-specific primers (Additional File 1). In normal controls, detected SNPs were located in the allele without JAK2 V617F mutation. In PV patients, detected SNPs were located in the mutated T allele of JAK2. The genotype that had minor alleles in all six SNPs was designated as the GGTCAC genotype. This genotype is more frequently observed in T allele of JAK2 V617F (19/28, 67.9%) than G allele in normal controls (6/28, 21.4%); the odds ratio was 7.74 (95% CI: 2.32-25.75). There were no significant differences in age or sex between normal controls and patients with PV.
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Ohyashiki et al. BMC Medical Genetics 2012 13:6 doi:10.1186/1471-2350-13-6