2324例β珠蛋白生成障碍性贫血患者的基因突变类型分析

Study on gene mutation of 2324 cases with β-thalassemia

目的研究现居住在广东地区的β珠蛋白生成障碍性贫血患者的基因突变类型。方法应用聚合酶链反应结合反向点杂交(polymerase chain reaction-reverse dot blot,PCR-RDB)技术和PCR产物测序方法。结果 6868例β珠蛋白生成障碍性贫血疑诊患者中共检测到2324例β珠蛋白生成障碍性贫血患者,其中重型患者99例,共检测到17种突变。结论 CD41-42、IVS-Ⅱ-654、-28、CD17为广东地区β珠蛋白生成障碍性贫血最常见的突变类型,占全部突变基因的86.5%。

Objective To analyze the gene mutation and genotype of β-thalassemia in Guangdong residents.Methods Polymerase chain reaction-reverse dot blot（PCR-RDB） assay and DNA sequencing were performed.Results 2324 cases were finally diagnosed from 6868 suspected cases of β-thalassemia,in which 17 types of gene mutation were detected.Conclusion The four mutations CD41-42,IVS-Ⅱ-654,-28 and CD17 were the most common mutation in β-thalassemia in Guangdong residents.