CN111621571A - Application of polymorphic site in preparation of myeloproliferative tumor detection product - Google Patents
Application of polymorphic site in preparation of myeloproliferative tumor detection product Download PDFInfo
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- CN111621571A CN111621571A CN202010642394.6A CN202010642394A CN111621571A CN 111621571 A CN111621571 A CN 111621571A CN 202010642394 A CN202010642394 A CN 202010642394A CN 111621571 A CN111621571 A CN 111621571A
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Abstract
The invention belongs to the technical field of biomedicine, and particularly relates to application of a polymorphic site in preparation of a bone marrow proliferative tumor detection product. The invention statistically analyzes the distribution of rs28362491 insertion/deletion polymorphism sites on NF-kB genes in blood samples through 269 cases of patients who are clinically diagnosed as MPN in Qilu hospital of Shandong university and 291 cases of normal controls, and data shows that the gene carrying type of the rs28362491 site on the individual NF-kB genes is related to the susceptibility of the individual NF-kB genes to the MPN, thereby providing a theoretical basis for the generation mechanism of myeloproliferative tumors and providing a research basis for developing an early warning model of the myeloproliferative tumors suitable for the population in China.
Description
Technical Field
The invention belongs to the technical field of biomedicine, and particularly relates to application of a polymorphic site in preparation of a bone marrow proliferative tumor detection product.
Background
The information in this background section is only for enhancement of understanding of the general background of the invention and is not necessarily to be construed as an admission or any form of suggestion that this information forms the prior art that is already known to a person of ordinary skill in the art.
Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell diseases characterized by the proliferation of one or more lineages of cells of the myeloid lineage (granulosa, erythroid, megakaryoid, or mast). Classical BCR/ABL 1-negative MPNs include Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Myelofibrosis (MF). The clinical manifestations are one or more kinds of hematemesis, often accompanied with liver and spleen enlargement, thrombosis, bleeding tendency and extramedullary hematopoiesis, which seriously affect the survival and life quality of patients. Because the current treatment means can not meet the clinical requirements, the search for susceptibility genes closely related to the occurrence and development of myeloproliferative neoplasm (MPN) has important significance for preventing diseases and improving the life quality of patients.
The nuclear factor kappa B (NF-kappa B) is an important transcription factor that regulates cell proliferation, apoptosis, and immune response. The research shows that the abnormal protein function or expression quantity can not only induce the proliferation of CD34+ stem cells of MPN patients, but also promote the growth of cells with mutation of MPN driving gene JAK2, thereby leading to the generation and development of MPN. Therefore, the mutation of NF-kB gene is considered to have a certain relation with the generation and development of MPN, but the mechanism of the abnormal high expression of NF-kB in MPN patients is not clear at all.
rs28362491 is an insertion/deletion polymorphic site on NF-kB gene, and no research report on the association of rs28362491 and MPN exists at present.
Disclosure of Invention
Aiming at the defects of the prior art, the invention discloses the application of rs28362491 insertion/deletion polymorphic sites on a nuclear factor kappa B gene in detecting myeloproliferative tumors, and provides a new thought for prevention and detection of MPN.
The invention is realized by the following technical scheme:
in the first aspect of the invention, the product for detecting the myeloproliferative tumor patients or susceptibility contains the substance for detecting the NF-kB insertion/deletion polymorphic site rs 28362491.
In the second aspect of the invention, the substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 is combined with other substances (such as substances for detecting other polymorphic sites or genotypes related to myeloproliferative tumors) to prepare a product for detecting myeloproliferative tumor patients or susceptibility.
In the third aspect of the invention, a method for detecting a patient with or susceptibility to a myeloproliferative tumor is provided, by detecting a substance of the NF-kappa B insertion/deletion polymorphic site rs28362491 or jointly detecting the substance of the NF-kappa B insertion/deletion polymorphic site rs28362491 and other substances (such as other substances for detecting the polymorphic site or genotype related to the myeloproliferative tumor).
In the fourth aspect of the invention, the application of the substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 in preparing a product for detecting a myeloproliferative tumor patient or a myeloproliferative tumor susceptibility product is provided.
In the fifth aspect of the invention, the application of the substance for detecting the NF-kB insertion/deletion polymorphic site rs28362491 in preparing products for detecting, identifying or assisting in identifying the polymorphism related to the myeloproliferative tumors is provided.
One or more technical schemes of the invention have the following beneficial effects:
(1) through 269 cases of patients who are clinically diagnosed as MPN in Qilu hospital of Shandong university and 291 cases of normal controls, statistical data analysis finds that the rs28362491 insertion/deletion polymorphic site on NF-kB gene in a blood sample is a polymorphic site related to myeloproliferative tumors and can be used for detecting the myeloproliferative tumors and the susceptibility thereof. The inventor firstly discovers that the NF-kB insertion/deletion polymorphic site rs28362491 is abnormally distributed in an MPN patient, further expounds the influence of the polymorphic site on the NF-kB expression in the MPN patient, provides a theoretical basis for the generation mechanism of the myeloproliferative tumor, and provides a research basis for developing an early warning model of the myeloproliferative tumor suitable for Chinese population.
(2) The expression condition of NF-kB is influenced by different genotypes of the NF-kB rs28362491 insertion/deletion polymorphic sites in the bone marrow specimen of the MPN patient and JAK2V617FMutations affected NF-. kappa.B expression with similar behavior. And the experimental result shows that the expression level of NF-kB of MPN patients is higher than that of the MPN patientsThe normal control shows that the NF-kB rs28362491 insertion/deletion polymorphism locus and the MPN most common gene mutation diagnosis standard JAK2V617FMutations, similar, are all associated with myeloproliferative tumors. The substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 can be mixed with other substances (such as substances for detecting other polymorphic sites or genotypes related to susceptibility of myeloproliferative tumors, such as JAK2V617FMutation) are combined together to prepare a product for detecting susceptibility of myeloproliferative tumors.
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The accompanying drawings, which are incorporated in and constitute a part of this specification, are included to provide a further understanding of the invention, and are incorporated in and constitute a part of this specification, illustrate exemplary embodiments of the invention and together with the description serve to explain the invention and not to limit the invention.
FIG. 1 correlation of NF-. kappa.B expression with MPN typing for example 2.
FIG. 2 NF-. kappa.B expression and JAK2 of example 2V617FThe relationship of the mutations.
FIG. 3 mRNA expression level of NF-. kappa.B expression versus NF-. kappa.B rs28362491 genotype of example 2.
FIG. 4 is a graph showing the protein expression levels of NF-. kappa.B in mononuclear cells of MPN patients having an insertion/insertion (ins/ins) genotype and patients having a bone marrow deletion/deletion (del/del) genotype in example 2.
Detailed Description
It should be noted that the following detailed description is exemplary and is intended to provide further explanation of the disclosure. Unless defined otherwise, all technical and scientific terms used herein have the same meaning as commonly understood by one of ordinary skill in the art to which this application belongs.
It is noted that the terminology used herein is for the purpose of describing particular embodiments only and is not intended to be limiting of example embodiments according to the present application. As used herein, the singular forms "a", "an" and "the" are intended to include the plural forms as well, and it should be understood that when the terms "comprises" and/or "comprising" are used in this specification, they specify the presence of stated features, steps, operations, devices, components, and/or combinations thereof, unless the context clearly indicates otherwise.
The invention discovers that rs28362491 insertion/deletion polymorphism has correlation with MPN, and the susceptibility of MPN can be predicted by detecting NF-kB gene insertion/deletion polymorphic sites, thereby providing a new thought for prevention and detection of MPN. The detection method can be DNA sequencing, restriction enzyme fragment length polymorphism, single-strand conformation polymorphism, denaturing high performance liquid chromatography, SNP chip, microfluidic chip technology, TaqMan probe technology, Sequenom MassArray technology and the like.
The substance for detecting the NF-kB insertion/deletion polymorphic site rs28362491 can be a primer, a probe or a combination of the primer and a matched reagent thereof for sequencing, a reagent for denaturing high performance liquid chromatography, a biochip and other substances or other reagents which can be expected by a person skilled in the art to be used when detecting the polymorphic site, so that the method for detecting the polymorphic site by DNA sequencing, restriction enzyme fragment length polymorphism, single-strand conformation polymorphism, denaturing high performance liquid chromatography, SNP chip, microfluidic chip technology, TaqMan probe technology, Sequenom MassArray technology and the like can be realized.
The myeloproliferative tumors of the present invention are further classified into Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Myelofibrosis (MF).
In order to make the technical solutions of the present disclosure more clearly understood by those skilled in the art, the technical solutions of the present disclosure will be described in detail below with reference to specific examples and comparative examples.
Example 1
The research is incorporated into 269 cases of patients who are clinically confirmed to be MPN in Qilu hospital of Shandong university and 291 cases of normal controls, and the distribution condition of the rs28362491 insertion/deletion polymorphism site on NF-kB gene in a blood sample is detected.
As shown in table 1, in the co-dominant model, the ins/ins genotype was positively correlated with the onset of MPN (p ═ 0.033, OR ═ 1.713, 95% CI ═ 1.044-2.810), while the ins genotype was positively correlated with the onset of MPN (p ═ 0.040, OR ═ 1.113, 95% CI ═ 1.005-1.232). The result shows that the gene carrying type of the rs28362491 locus on the NF-kappa B gene of an individual is related to the susceptibility of the individual to MPN. The ins/ins genotype and the ins gene distribution frequency have obvious difference in individuals with and without myeloproliferative tumors, the susceptibility of individual myeloproliferative tumors can be predicted by detecting the gene carrying type of the rs28362491 site on the NF-kB gene of the individual, or an early warning model or system suitable for the population of China to predict the susceptibility of individual myeloproliferative tumors is established by combining with other substances (such as substances for detecting other polymorphic sites or genotypes related to the myeloproliferative tumors), and products for detection are prepared.
The specific primer pair for detecting the rs28362491 insertion/deletion polymorphic site on the NF-kappa B gene in the embodiment is as follows:
upstream primer 5'-CCGTGCTGCCTGCGTT-3'
Downstream primer 5'-GCTGGAGCCGGTAGGGAA-3'
Probe 1: b5 '-VIC-ACCATTGATTGGGCC-MGB-3'
Probe 2:5 '-FAM-CGACCATTGGGCC-MGB-3'
TABLE 1 relationship between NF- κ B rs28362491 genotyping and MPN susceptibility in MPN cases and normal controls
Example 2
Meanwhile, 64 MPN patient bone marrow samples and 9 normal control bone marrow samples were collected for mRNA expression detection and protein expression detection.
As shown in FIGS. 1-4, the mRNA expression level of NF-. kappa.B in bone marrow mononuclear cells of MPN patients was significantly higher than that of the normal control, and the mRNA expression level of NF-. kappa.B was significantly higher than that of the normal control in different MPN typing (FIG. 1). JAK2V617FMutations are the most common genetic mutations in MPN and are one of the criteria for clinical diagnosis of MPN. We found that NF-. kappa.B mRNA expression levels were in JAK2V617FThe mutation-positive patients were significantly higher than the mutation-negative patient samples (fig. 2). The expression of NF-kappa B is influenced by different genotypes of the polymorphic sites of NF-kappa Brs28362491 insertion/deletion. Insertion/insertion (ins/ins) genotype MPN patient bone marrowThe expression level of NF-kB mRNA and protein in the mononuclear cells is obviously higher than that of the patients with deletion/deletion (del/del) genotypes (FIG. 3 and FIG. 4). rs28362491 polymorphic site of insertion/deletion is related to MPN susceptibility and can be combined with JAK2V617FMutations are used to detect MPN susceptibility.
It should be noted that the above examples are only used to illustrate the technical solutions of the present invention and not to limit them. Although the present invention has been described in detail with reference to the examples given, those skilled in the art can modify the technical solution of the present invention as needed or equivalent substitutions without departing from the spirit and scope of the technical solution of the present invention.
SEQUENCE LISTING
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Claims (10)
1. A product for detecting a bone marrow proliferative tumor patient is characterized by comprising a substance for detecting NF-kB insertion/deletion polymorphic site rs 28362491.
2. A product for detecting susceptibility of myeloproliferative tumors is characterized by containing a substance for detecting NF-kB insertion/deletion polymorphic site rs 28362491.
3. The substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 is combined with other substances (such as substances for detecting other polymorphic sites or genotypes related to the myeloproliferative tumor) to prepare the product for detecting the myeloproliferative tumor patients.
4. The substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 is combined with other substances (such as substances for detecting other polymorphic sites or genotypes related to the susceptibility of the myeloproliferative tumors) to prepare the product for detecting the susceptibility of the myeloproliferative tumors.
5. A method for detecting a myeloproliferative tumor patient, which is characterized in that a substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 and other substances (such as substances for detecting other myeloproliferative tumor related polymorphic sites or genotypes) are jointly used.
6. The method for detecting the susceptibility of the myeloproliferative tumor is characterized in that a substance for detecting the NF-kB insertion/deletion polymorphic site rs28362491 is used, or the substance for detecting the NF-kB insertion/deletion polymorphic site rs28362491 and other substances (such as substances for detecting other polymorphic sites or genotypes relevant to the myeloproliferative tumor) are jointly detected.
7. The application of the substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 in preparing a detection product for a patient with myeloproliferative tumor.
8. The application of the substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 in preparing bone marrow proliferative tumor detection susceptibility products.
9. Application of a substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 in preparing products for detecting polymorphism related to myeloproliferative tumors.
10. Application of a substance for detecting NF-kB insertion/deletion polymorphic site rs28362491 in preparing products for identifying or assisting in identifying polymorphisms related to myeloproliferative tumors.
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2020
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| WO2007130399A2 (en) * | 2006-05-01 | 2007-11-15 | Vincent C Giampapa | Method of determining genetic predisposition for deficiency in health functions using snp analysis |
| CN106480212A (en) * | 2016-11-24 | 2017-03-08 | 深圳市核子基因科技有限公司 | A kind of kit for detecting liver cancer susceptibility and its SNP mark |
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