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JAK2V617F mutation is associated with special alleles in essential thrombocythemia
- Source :
- Leukemialymphoma. 52(3)
- Publication Year :
- 2011
-
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.
- Subjects :
- Cancer Research
Genetic Linkage
Phenylalanine
DNA Mutational Analysis
Mutation, Missense
Single-nucleotide polymorphism
Polymorphism, Single Nucleotide
Gene Frequency
Leucine
medicine
SNP
Humans
Genetic Predisposition to Disease
Jak2v617f mutation
Genetic Testing
Allele
Alleles
Genetics
Janus kinase 2
biology
Essential thrombocythemia
Lysine
Tryptophan
Valine
Hematology
Janus Kinase 2
medicine.disease
Oncology
Amino Acid Substitution
Healthy individuals
Mutation (genetic algorithm)
biology.protein
Receptors, Thrombopoietin
Thrombocythemia, Essential
Subjects
Details
- ISSN :
- 10292403
- Volume :
- 52
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Leukemialymphoma
- Accession number :
- edsair.doi.dedup.....5869dbd905386766fb546f4ae4cf4dd3