35 results about "Beta globin gene" patented technology

A method is described for regulating gene expression related to iron metabolism to ameliorate diseases that include sickle cell disease, cancers, neurodegenerative diseases, Friedreich's ataxia and other neuromuscular disorders, and atherosclerosis. This approach is illustrated by recent findings that show that ferritin-H, an iron-binding protein that is present in cell nuclei, can repress the human beta-globin gene, the gene that is mutated in sickle cell disease. Increased expression of ferritin-H or a related ferritin-family peptide, given to effected cells either as the peptide itself (or a part thereof), as an expression clone of the ferritin-H-subfamily gene, or via a gene regulator that increases expression of the ferritin-H-subfamily gene itself, prevents or ameliorates expression of the disease state in disorders where increased availability of iron is implicated in the etiology of the disease, including those named above.

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 method for preparing a beta<IVS-II-654> thalassemia transgenic mouse model carrying human beta-globin gene. A lentiviral vector mediated human beta-globin gene is stably integrated in the genome of the mouse model, and the genome can be expressed continuously and stably; furthermore, the genome can also be inherited to the offspring and maintain the original expression level, thus phenotypes such as hematology, pathology and the like of the beta<IVS-II-654> thalassemia transgenic mouse model carrying the human beta-globin gene are improved. The mouse model prepared by the method can be used for evaluating the effectiveness, the stability and the security of the lentiviral vector mediated human beta-globin gene in the treatment of beta<IVS-II-654> thalassemia.

The invention discloses a nucleic acid composition for detecting HPVs (Human Papilloma Viruses) as well as application and a kit of the nucleic acid composition, and relates to the technical field ofin-vitro diagnosis of virus nucleic acid detection. The nucleic acid composition for detecting the HPV comprises primers which are shown in SEQ ID NO.1 to 6 and primers which are shown in SEQ ID NO.7to 9. The nucleic acid composition disclosed by the invention is capable of simultaneously detecting HPV 16 and HPV 18 and parting the specificity of the HPV 16 and the HPV 18, meanwhile, quality control can also be carried out on a detecting process through an internal control beta-globin gene detection result, false negatives can be reduced, and the nucleic acid composition has the characteristics of high sensitivity and strong specificity.

The invention discloses a nucleic acid detection kit for 12+2 high-risk human papilloma virus (HPV), comprising: (1) probes as shown in SEQ ID No:1-12 and primers as shown in SEQ ID No: 13-36 of a nucleotide sequence which is only complementary with the DNAs of 12 high-risk HPV; (2) a probe as shown in SEQ ID No:37 and primers as shown in SEQ ID No: 38-39 of a nucleotide sequence which is only complementary with the DNA of high-risk HPV16; (3) a probe as shown in SEQ ID No:40 and primers as shown in SEQ ID No: 41-42 of a nucleotide sequence which is only complementary with the DNA of high-risk HPV 18; and (4) a probe as shown in SEQ ID No: 43 and primers as shown in SEQ ID No: 44-45 of a nucleotide sequence which is only complementary with the DNA of an intracellular beta-globin gene, wherein each group of probes respectively mark different dyes with the maximum emission wavelengths of 518nm, 538-553nm, 574-575nm, 607-615nm, 640nm, 666-667nm and 690nm. The kit disclosed by the invention can furthest lighten huge cost brought by HPV gene detection in China, and the health of people is protected.

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 relates to a thalassemia-induced multipotent stem cell as well as a preparation method and application thereof. The multipotent stem cell is derived from a body cell of a thalassemia patient; and a genome of the thalassemia-induced multipotent stem cell contains a normal beta globin gene. The thalassemia-induced multipotent stem cell disclosed by the invention can be differentiated into hemopoietic stem cells under proper conditions; and the hemopoietic stem cells can express the normal beta globin gene.

The invention discloses a human-source chromosome targeting carrier and preparing method and appliance of beta-globin gene cluster, which is characterized by the following: the carrier contains recombinant human-source chromosome targeting BAC carrier of Beta-globin gene cluster,BGGC, whose GenBank number is NG_000007 to construct carrier as human-source chromosome targeting BAC carrier BACMS.

The invention discloses a kit for detecting α and β globin gene sequences in one tube, including amplification primers, and used for identifying α globin gene sequences -SEA, -α 3.7 ,-α 4.2 Site deletions, alpha globin gene sequence CD30, CD31, CD59, WM, QS, CS site mutations and beta globin gene sequence ‑82, ‑80, ‑79, ‑78, Cap+1, Cap40‑43, Int , CDs14 / 15, CD17, CD19, CD26, CDs27 / 28, CD30, IVSⅠ‑1, CD31, CD37, CDs41 / 42, CD43, CDs71 / 72, CD95, IVSⅡ‑5, IVSⅡ‑654 site mutation probe .

The invention provides an erythroid-specific human beta globin gene promoter, a recombinant sequence for expressing human beta globin and applications thereof, belonging to the technical field of genetic engineering. The present invention provides an erythroid-specific human β-globin gene promoter, the nucleotide sequence of which is shown in SEQ ID NO: 1, which has the characteristics of high-efficiency and erythroid-specific activation of functional gene expression. The present invention also provides a recombinant sequence specifically expressing human β-globin in erythroid cells, which is human β-globin gene locus control region HS3~1-β-globin gene promoter-β-globin gene-β-globin Gene enhancers. By constructing a recombinant vector expressing the recombinant sequence, it was verified in erythroid cells that the recombinant sequence can specifically express the human β-globin gene with high efficiency, which provides a basis and experimental reference for gene therapy of β-thalassemia, and is useful for the treatment of thalassemia. It is of great significance, and at the same time provides method support for the study of the expression regulation of β globin.

The embodiment of the invention relates to the technical field of biological detection, in particular to an anemia screening kit for capturing long-fragment DNA in a targeted mode through CRISPR and CAS9. The anemia screening kit comprises sgRNA used for capturing thalassemia related genes in a targeted mode, a Y-type connector used for cyclization amplification and a primer used for cyclization amplification. The target capture range of the sgRNA is as follows: chr11: 5166361 to 5296578 (hg38), and chr16: 48994 to 210817 (hg38), and the target capture range of the sgRNA is as follows: chr11: 5166361 to 5296578 (hg38). According to the anemia screening kit for target capture of long fragment DNA by CRISPR and CAS9 and the method thereof, a large fragment region of thalassemia variation is captured in a targeted manner through CRISPR and CAS9 systems, five types of thalassemia mutation regions including alpha, beta, delta, delta beta and epsilon gamma delta beta are covered, and a three-generation or four-generation long-reading sequencing technology is utilized to identify the thalassemia mutation region of the thalassemia mutation region of the thalassemia mutation region of the thalassemia mutation region of the thalassemia mutation region of the thalassemia mutation region. The kit can effectively detect pathogenic mutation, complex structure variation and large fragment deletion which may cause thalassemia in people, and non-deletion and deletion mutation covering beta globin genes and related regulatory genes including HS-40 and beta LCR genes.