Method for effectively repairing Westmead mutation of thalassemia and application

Abstract

The invention discloses a method for effectively repairing Westmead mutation of thalassemia and application. The invention provides an induced pluripotent stem cell. The HBA2 gene of the induced pluripotent stem cell does not have the westmead mutation. The induced pluripotent stem cell is initially induced by human amniocytes which carry the Westmead mutation of the thalassemia, and initial induced pluripotent stem cell is subjected to mutation repair according to a certain gene repair method to obtain the induced pluripotent stem cell, and the HBA2 gene of the induced pluripotent stem cell no longer has the westmead mutation. The induced pluripotent stem cell has pluripotency and is significantly improved in hematopoietic function compared with induced pluripotent stem cells having the westmead mutation.

Description

technical field [0001] The present invention relates to the field of biomedicine, in particular, the present invention relates to induced pluripotent stem cells and their preparation method and application. Background technique [0002] Thalassemia has spread all over the world, accounting for 2% of the world's population. About 250 million people are carriers of thalassemia, including α and β thalassemia, which are mostly distributed in coastal areas such as the Mediterranean Sea and Africa, while China is common in Guangdong, Hainan, etc. Southern coastal area. Adult hemoglobin is composed of 4 mutually balanced globin chains, including 2 α chains and 2 β chains. The deficiency of the β-globin gene (HBB gene) on autosome 11 that guides the synthesis of β-globin in hemoglobin causes difficulties or decreases in the synthesis of β-globin, the imbalance of α-globin, and the deposition of excess α-globin on the red blood cell membrane, thereby Destruction of the red blood ce...

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Problems solved by technology

However, graft-versus-host disease and immune rejection are still two difficult problems that allogeneic transplantation must face. Therefore, it is necessary to find a donor that matches the major histocompatibility antigen to avoid the above-mentioned rejection. Patients still have some immune complications and the risk of transplant failure. In the absence of donors, the mutation site can be corrected before autologous bone marrow transplantation before transplantation. This may be a new hope for the treatment of thalassemia, or Introducing normal HBB and HBA into patient target cells to compensate for the missing function is currently the most direct treatment for thalassemia, but progress is slow due to the lack of safe and effective expression vectors

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