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Familial polycythemia vera pedigree. The two affected individuals (UPNs 534 and 533) are shown as black circles. The genotype for rs12340895 is shown (G = 46/1 allele; C = non-46/1 allele), as is the %V617F in affected cases. Allele-specific PCR for UPN 534 showed that JAK2V617F arose on the 46/1 allele. All other individuals had normal blood counts and were negative for JAK2V617F, PRV1 overexpression and endogenous erythroid colony growth14.
