47 results about "Beta globin" patented technology

The invention relates to the field of medical diagnostics. More specifically, the invention relates to methods to diagnose or screen for inflammatory conditions or disease, including auto-inflammatory disease and affective disorder, in a subject, preferably a human subject, by assaying for a marker for an inflammatory disease. Provided is a method to diagnose, screen for or predict the development of an affective disorder (AD), preferably bipolar disorder (BP), in a subject, the method comprising determining the level of at least one, preferably at least two, more preferably at least three, most preferred at least four, AD-specific gene product(s) in a biological sample isolated from the subject, preferably peripheral blood monocytes, wherein the gene is selected from the group comprising ATF3, phosphodiesterase 4 B, CXCL2, BCL2-related protein A2, Dual specificity phosphatase 2, TNFα-induced protein 3 / A20, BTEB1 CXCL3, Chemokine CCL-3 like, CCL-4, CCL20, CX2CR1, Amphiregulin, Thrombomodulin, Heparin-binding EGF-like growth factor, DNA-damaged inducible transcript, V28 chemokine-like receptor, TRAIL. MAPK6, B4BP4, PBEF1, Thrombospondin 1, MAFF, HSP70, CCL2, MCP-3, CCR2, CX3CR1, DOK1, HBB, G-gamma globin, THBD, PHLDA1, DTR and GNLY.

The invention discloses a combined vector for mediating the high-efficiency expression of an exogenous gene in cells of a mammal, which comprises an exogenous gene high-efficiency expression vector pATEW and an artificial transcription factor pcDNA3.1(+) / Hy / GVP4. The exogenous gene high-efficiency expression vector pATEW combines gene expression regulatory elements including a human beta-globin MAR sequence, a hEF-1a genetic transcription regulatory sequence, an after-transcription regulatory element WPRE and the like and an artificial transcription factor combined site sequence. The artificial transcription factor expression vector (pcDNA3.1(+) / Hy / GVP4 is an artificial transcription factor GVP4 which is formed by connecting two parts: four tandem repeats of 12 peptides (DALDDFDLDMLG) in VP16, which serves as the functional structural region of the artificial transcription factor; and the nuclear localization sequence of SV40. By co-transfecting cells of the mammal with the pATEW carrying the exogenous gene and the pcDNA3.1(+) / Hy / GVP4, the high-efficiency expression of the exogenous gene in the cells of the mammal can be realized.

The invention relates to a positive quality control product for detecting HBB / GJB2 / ATP7B / PAH genetic disease genes and a preparation method of the positive quality control product. A DNA sequence, which includes four mutant gene segments, namely HBB_CD41-42, GJB2_235delC, ATP7B_2333G>T and PAH_728G>A, is synthesized, and the sequence is interpolated into a plasmid vector and is mixed with wild-type human genome DNA according to a copy number of 2 to 1, so that the positive quality control product is obtained. The positive quality control product prepared by the invention, as a positive internal standard quality control material of a kit for detecting HBB / GJB2 / ATP7B / PAH gene mutation related to genetic diseases, can be used for accurately monitoring an entire experimental process of detecting the related genetic diseases with the adoption of the detection kit; therefore, the positive quality control product can serve as a standard for judging whether an experiment is successful or not.

The invention discloses a lentiviral vector suitable for gene therapy of thalassemia and sickle anemia. The system comprises: a, a micro locus control region, which is a micro regulatory element which is screened from a locus control region of beta globin 16kb and does not contain an HS1 region; b, a gene sequence of beta globin, wherein the gene sequence is as shown in SEQ ID NO.3; c, a promoter sequence of an upstream flanking of the gene sequence of beta globin; d, a flanking sequence at the downstream of the gene sequence of beta globin; and e, an insulator sequence from a Foamy virus (Foamy virus). Compared with the prior art, the invention optimizes the structure of the vector, and finds that after the second intron of the Beta globin gene (HBB) is optimized, the expression of the gene can be improved to a certain extent, and the packaging yield of the virus can be greatly improved, so that the clinical use and industrialization of the Beta globin gene become possible.

The invention discloses a library building method for screening large samples of thalassemia based on high-throughput sequencing. The library building method comprises the following steps: respectively amplifying HBA1, HBA2 and HBB genes by using specific primers with tag sequences, wherein the tag sequences are used for distinguishing different samples; mixing amplification products with same genes from different samples and then mixing the mixed amplification products with different genes; purifying the mixed products; incompletely interrupting the purified products; carrying out 5' phosphorylation blunt end repair and 3' end plus A to obtain a DNA segment with 5' phosphorylation and 3' viscous end A; ligating the DNA fragment with a connector containing a unique barcode sequence for distinguishing the library; purifying a ligation product to obtain an upper computer library suitable for the high-throughput sequencing. The method disclosed by the invention has the advantages that 245kinds of HBB gene mutation types and 93 kinds of HBA gene mutation types which are currently known and related to the thalassemia can be covered; meanwhile, novel types in the target area range can also be detected.

Methods of using one or more fumaric acid esters or pharmacologically active salts, derivatives, analogues, or prodrugs thereof to increase expression of fetal hemoglobin (HbF) are disclosed. The methods typically include administering to a subject an effective amount of one or more fumaric acid esters optionally in combination or alternation with hydroxyurea to induce HbF expression in the subject in an effective amount to reduce one or more symptoms of a sickle cell disorder, a hemoglobinopathy, or a beta-thalassemia, or to compensate for a genetic mutation is the human beta-globin gene (HBB) or an expression control sequence thereof. Pharmaceutical dosage units and dosage regimes for use in the disclosed methods are also provided.

The invention discloses differential protein in serum at the early pregnancy stage of a cow and application of the differential protein, and relates to the field of cow feeding. The differential protein includes pregnancy differential protein, non-pregnant differential protein and reverse differential protein. The pregnancy differential protein comprises ARHGAP42, EFEMP1, GTF2F1, LOXL2, CPB2, LYST, RDH11, TRABD, TRIM67 and / or TRMT112. The non-pregnant differential protein comprises IGL. The reverse differential protein comprises HBB and HP. The differential protein is used for judging whether the cow is pregnant or not and whether early embryo loss exists or not or increasing the embryo survival rate. By means of the differential protein, whether the fertilized cow is pregnant or not can be judged, synchronous estrus and the second time of artificial insemination can be conducted on the non-pregnant cow in time, early embryo loss early warning and progesterone preparation can be conducted, and the pregnancy rate and the breeding efficiency of cattle can be comprehensively increased.

A process for preparing the transgenic mouse able to specifically express Cre recombinant enzyme in cental nerve system includes such steps as using the terminals' regulatory sequence of 1.8 kb GFAP gene to configure the transgenic carrier pGFAP-Cre-hGH containing two beta-glubolin insulators, GFAP5' terminal regulatory region, Cre recombinant enzyme gene and human growth hormone gene, injecting the 7.6 kbtransgenic fragment beta globin insulator-pGFAP-Cre-hGH into mouse's fertilizer eggs, transplating them in the deference duct of male mouse, and developing to obtain the target mouses.