CRISPR/Cas9在β-地中海贫血治疗中的研究进展  

Progress of CRISPR/Cas9 in the Treatment ofβ-thalassemia

作　　者：贺静 吴柳娇[1] HE Jing;WU Liujiao(Medical School,Kunming University of Science and Technology,Kunming 650500,China;Department of Medical Genetics,the First People's Hospital of Yunnan,Kunming 650032,China)

机构地区：[1]昆明理工大学医学院,云南昆明650500 [2]云南省第一人民医院医学遗传科,云南昆明650032

出　　处：《昆明理工大学学报（自然科学版）》2022年第4期83-89,共7页Journal of Kunming University of Science and Technology(Natural Science)

基　　金：国家自然科学基金项目(81860030);云南省自然科学基金项目(2019LCZXKF-XY04)。

摘　　要：β-地中海贫血是β-珠蛋白基因突变后导致血红蛋白合成量不足而引起的一种严重威胁人类健康的致死、致残的常染色体隐性遗传血液病.广泛分布于热带、亚热带及地中海地区,发病率位于各种出生缺陷中的第三位,已成为世界性的重大公共卫生问题,云南是地贫高发地区,目前,临床能治愈重型β-地贫患者的是造血干细胞移植技术,但由于缺乏免疫匹配的供者以及昂贵的费用限制了其发展.近年来,CRISPR/Cas9在地中海贫血中的应用为重型β-地贫患者治疗提供了一种新的治疗途径.本文对CRISPR/Cas9技术用于诱导胎儿血红蛋白和纠正珠蛋白基因的突变以减轻β-地中海贫血患者的临床症状的技术方法、进展进行了综述.β-thalassemia is an autosomal recessive blood disease caused by the deficiency in hemoglobin synthesis due to the mutation ofβ-globin gene,which is a serious threat to human health.It is a common disease in the tropical and subtropical regions as well as the Mediterranean region.Having the third highest incidence rate among the birth defects,it has become a major public health problem in the world.Yunnan is a high incidence area of this disease.At present,Hematopoietic stem cell transplantation is a clinical cure for patients with severeβ-thalassemia,but its development is limited by the lack of immune matching donors and high cost.In recent years,the application of CRISPR/Cas9 in thalassemia provides a new treatment approach for patients with severeβ-thalassemia.In this paper,the methods and progress of CRISPR/Cas9 technology for inducing fetal hemoglobin and correcting globin gene mutation to alleviate the clinical symptoms ofβ-thalassemia patients are reviewed.

关 键 词：Β-地中海贫血 造血干细胞移植 CRISPR/Cas9 

分 类 号：R556.61[医药卫生—血液循环系统疾病]