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β-地中海贫血(β-地贫)在我国南方是一种较为常见的遗传性血液病。本病是由于调控β珠蛋白的基因突变或缺失所致β珠蛋白生成减少或不能生成。目前对本病尚无简便而有效的治疗方法,因此,从基因水平对本病进行分析,并开展产前诊断,避免重型β地贫胎儿的出生,是防治本病较为有效的方法。本文采用简便易行的反向点杂交法(reverse dot blot)进行基因分析和产前诊断,现将初步结果报告如下。
β-thalassemia (β-thalassemia) is a common hereditary hematological disease in southern China. The disease is due to the regulation of β-globin gene mutations or deletions caused β-globin production reduced or can not be generated. At present, there is no simple and effective treatment for this disease. Therefore, analyzing this disease from the genetic level and prenatal diagnosis to prevent the birth of severe β-thalassemia is a more effective method to prevent and treat this disease. This article uses a simple and convenient method of reverse dot blot (reverse dot blot) for genetic analysis and prenatal diagnosis, the preliminary results are reported below.