title: JAK2V617F mutation is associated with special alleles in essential thrombocythemia.
abstract: Janus kinase 2 mutation (JAK2V617F) has been identified in myeloproliferative neoplasms. Furthermore, special single nucleoside polymorphisms (SNPs) have been found to be associated with the JAK2V617F mutation. Therefore, the associations among JAK2V617F and special SNPs and the allelic location between them were investigated in patients with essential thrombocythemia (ET). A total of 61 patients with ET and 106 healthy individuals were enrolled. The PCR-RFLP method was applied to investigate the pattern of three SNPs, rs10974944, rs12343867, and rs12340895. Allele-specific PCR was used to examine the allelic location between rs10974944 and JAK2V617F. Among the patients with ET, 34 (55.7%, 34/61) were JAK2V617F positive (heterozygous) while the other 27 (44.3%, 27/61) were negative, and there were no MPLW515L/K mutations noted. The pattern of special SNPs in JAK2V617F(+) was significantly different from that in normal individuals (p <0.05), while there was no difference between JAK2V617F(-) patients and normal individuals. Allele-specific PCR showed high association of a cis-location between the special G-allele of rs10974944 and JAK2V617F(+). Based on this small numbered study, the results show the association between special SNPs and JAK2V617F mutation and a cis-location between the special G-allelic form of rs10974944 and the JAK2V617F mutation. These data highlight a close relationship between them in patients with ET.
authors.affiliation: Faculty of Medicine, Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Hui-Hua
authors.initials: HH
authors.lastname: Hsiao
authors.forename: Yi-Chang
authors.initials: YC
authors.lastname: Liu
authors.forename: Hui-Jen
authors.initials: HJ
authors.lastname: Tsai
authors.forename: Ching-Ping
authors.initials: CP
authors.lastname: Lee
authors.forename: Jui-Feng
authors.initials: JF
authors.lastname: Hsu
authors.forename: Sheng-Fung
authors.initials: SF
authors.lastname: Lin
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007930:Leucine / Q000235:genetics; D008239:Lysine / Q000235:genetics; D020125:Mutation, Missense / Q000502:physiology; D010649:Phenylalanine / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D053628:Receptors, Thrombopoietin / Q000235:genetics; D013920:Thrombocythemia, Essential / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics; D014633:Valine / Q000235:genetics
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D010649:Phenylalanine; D014364:Tryptophan; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D007930:Leucine; D014633:Valine; D008239:Lysine