Objective: To explore the mutation and single nucleotide polymorphism(SNP) of LNK gene in the patients with essential thrombocytosis (ET), and to analyze the relationship between LNK gene variation and the occurrence of ET.
Methods: JAK2V617F mutation was identified by allele-specific PCR. The whole exon of LNK gene was amplified by PCR. The amplified sequences included the Rs3184504 (C/T) and Rs78894077 (A/C/G/T) affecting the expression of amino acids in LNK gene, and the Rs7973120 (A/T) unaffecting the expression of amino acids. The mutation and SNP of LNK gene were analyzed by DNA sequencing.
Results: Six cases of ET had LNK mutation, including four types: A300V, R425C, V402L and R426Q. T allele distribution of SNP Rs78894077 Ser in ET group was statistically significantly higher than that in the control group (P<0.05). T allele frequency of SNP Rs3184504 Ser in ET group was higher than that in the control group(P<0.05).
Conclusion: LNK mutations exist in ET patients, and the T allele gene carrying LNK SNP Rs78894077 Ser and Rs3184504 Ser in persons may increase the risk of ET.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.7534/j.issn.1009-2137.2018.01.040 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.
Ann Hematol
December 2024
Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Article Synopsis
- * Understanding inherited traits is essential for making decisions regarding allogeneic hematopoietic cell transplants (allo-HCT) and choosing suitable donors.
- * The case of a 49-year-old woman with JAK2 V617F-positive primary myelofibrosis (PMF) illustrates the significance of genetic findings, including a variant in the SH2B3 gene, in clinical management and genetic counseling for transplant options.
Therapeutic Potential of Neutralizing Monoclonal Antibodies (nMAbs) against SARS-CoV-2 Omicron Variant.
Curr Pharm Des
November 2024
School of Pharmaceutical Sciences, Siksha 'O' Anusandhan (Deemed to be University), Kalinga Nagar, Bhubaneswar-751030, Odisha, India.
Background: The COVID-19 pandemic has spurred significant endeavors to devise treatments to combat SARS-CoV-2. A limited array of small-molecule antiviral drugs, specifically monoclonal antibodies and interferon therapy, have been sanctioned to treat COVID-19. These treatments typically necessitate administration within ten days of symptom onset.
View Article and Find Full Text PDFFunctional Natural Killer-cell Genetics and Microvascular Inflammation After Kidney Transplantation: An Observational Cohort Study.
Transplantation
October 2024
Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
Background: Recent evidence highlights the pivotal role of natural killer (NK) cells in allograft rejection.
Methods: We explored associations of missing self and gene polymorphisms determining the phenotype and/or functionality of NK cells with microvascular inflammation (MVI) in a single-center cohort of 507 consecutive kidney transplant recipients. Patients were genotyped for killer cell Ig-like receptors and polymorphisms in 4 selected genes (FCGR3AV/F158 [rs396991], KLRC2wt/del, KLRK1HNK/LNK [rs1049174], and rs9916629-C/T).
Control of germinal center B cell survival and IgE production by an adaptor molecule containing PH and SH2 domains, Aps/Sh2b2.
Sci Rep
August 2024
Department of Immune Regulation, The Research Center for Hepatitis and Immunology, Research Institute, National Center for Global Health and Medicine, Ichikawa, Chiba, Japan.
The germinal centers (GCs) are structure found within secondary lymphoid organs and are important for the antibody-producing response against foreign antigens. In GCs, antigen-specific B cells proliferate intensely, inducing immunoglobulin class switching. Recent studies have shown that GCs are also an important site for class switching to IgE, which is implicated in allergy.
View Article and Find Full Text PDFThe circadian clock and thermal regulation in plants: novel insights into the role of positive circadian clock regulators in temperature responses.
J Exp Bot
May 2024
Fundación Instituto Leloir-IIBBA/CONICET, Av. Patricias Argentinas 435, Ciudad Autónoma de Buenos Aires, Argentina.
The impact of rising global temperatures on crop yields is a serious concern, and the development of heat-resistant crop varieties is crucial for mitigating the effects of climate change on agriculture. To achieve this, a better understanding of the molecular basis of the thermal responses of plants is necessary. The circadian clock plays a central role in modulating plant biology in synchrony with environmental changes, including temperature fluctuations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!