CN114222816A - 一种高效修复环状铁粒幼细胞性贫血基因突变的方法 - Google Patents

一种高效修复环状铁粒幼细胞性贫血基因突变的方法 Download PDF

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CN114222816A
CN114222816A CN202080056107.1A CN202080056107A CN114222816A CN 114222816 A CN114222816 A CN 114222816A CN 202080056107 A CN202080056107 A CN 202080056107A CN 114222816 A CN114222816 A CN 114222816A
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sequence
gene
nucleotides
alas
sgrna
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方日国
袁鹏飞
张英驰
杨卉慧
于玲玲
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Guangzhou Ji Yin Medical Technology Co ltd
Institute of Hematology and Blood Diseases Hospital of CAMS and PUMC
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Guangzhou Ji Yin Medical Technology Co ltd
Institute of Hematology and Blood Diseases Hospital of CAMS and PUMC
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    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
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    • C12N5/00—Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C12N9/22—Ribonucleases RNAses, DNAses

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Abstract

提供一种利用基因编辑技术高效修复导致环状铁粒幼红细胞性贫血的ALAS‑2基因突变的方法，其包含利用基因编辑技术，高效安全地基因修饰患者造血干细胞的ALAS‑2基因特异点突变，恢复ALAS‑2因表达，使亚铁血红素合成以及红细胞成熟恢复至正常水平，实现治疗疾病的目的。

Description

PCT国内申请，说明书已公开。

Claims (25)

  1. PCT国内申请，权利要求书已公开。
CN202080056107.1A 2019-08-29 2020-08-28 一种高效修复环状铁粒幼细胞性贫血基因突变的方法 Pending CN114222816A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
CNPCT/CN2019/103235 2019-08-29
CN2019103235 2019-08-29
PCT/CN2020/112227 WO2021037234A1 (zh) 2019-08-29 2020-08-28 一种高效修复环状铁粒幼细胞性贫血基因突变的方法

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CN114222816A true CN114222816A (zh) 2022-03-22

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CN202080056107.1A Pending CN114222816A (zh) 2019-08-29 2020-08-28 一种高效修复环状铁粒幼细胞性贫血基因突变的方法

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CN (1) CN114222816A (zh)
WO (1) WO2021037234A1 (zh)

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002010454A2 (en) * 2000-07-28 2002-02-07 Genaissance Pharmaceuticals, Inc. Haplotypes of the alas2 gene
CN107949641A (zh) * 2015-06-17 2018-04-20 Uab研究基金会 用于基因组编辑的crispr/cas9复合物
CN109735497A (zh) * 2017-10-27 2019-05-10 博雅辑因（北京）生物科技有限公司 一种提高胎儿血红蛋白表达水平的方法

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11123430B2 (en) * 2015-11-04 2021-09-21 Acceleron Pharma Inc. Methods for increasing red blood cell levels and treating ineffective erythropoiesis

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002010454A2 (en) * 2000-07-28 2002-02-07 Genaissance Pharmaceuticals, Inc. Haplotypes of the alas2 gene
CN107949641A (zh) * 2015-06-17 2018-04-20 Uab研究基金会 用于基因组编辑的crispr/cas9复合物
CN109735497A (zh) * 2017-10-27 2019-05-10 博雅辑因（北京）生物科技有限公司 一种提高胎儿血红蛋白表达水平的方法
CN109735574A (zh) * 2017-10-27 2019-05-10 博雅辑因（北京）生物科技有限公司 一种提高胎儿血红蛋白表达的方法

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
ZHANG，Y.C.等: "Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation" *

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