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β地中海贫血(简称β地贫)是由于β珠蛋白基因突变导致β珠蛋白多肽链缺如(β°)或合成不足β~+而引起的遗传性溶血性疾病。我国南方地区发病率较高,目前尚无有效的治疗方法,产前诊断是预防β地贫的有效措施。对原先未研究过的群体进行系统的研究,将发现新的β基因缺陷类型,在此基础上人工合成相应的寡核苷酸探针,提高β地贫产前诊断的成功率。过去几年中,运用重组DNA技术、快速DNA序列分析及克隆化β基因功能测定、多聚酶链反应(PCR)
Beta thalassemia (beta thalassemia) is a hereditary hemolytic disease caused by a mutation in the beta globin gene that results in absence (beta) of the beta globin polypeptide chain or insufficient synthesis of beta to beta. In southern China, the incidence rate is high, there is no effective treatment, prenatal diagnosis is an effective measure to prevent thalassemia. A systematic study of previously untargeted populations will reveal new types of beta gene defects and, on this basis, synthesize appropriate oligonucleotide probes to improve the success rate of prenatal diagnosis of beta thalassemia. Over the past few years, the use of recombinant DNA technology, rapid DNA sequence analysis and cloning β gene function, polymerase chain reaction (PCR)