轻型β-地中海贫血的β-珠蛋白基因突变检测

Identification of the Mutation of β-Glob in Genein β-thalassemia Carrier in Shenzhen Population

目的对深圳地区临床诊断为轻型β-地中海贫血个体的β-珠蛋白基因进行突变分析。方法用PCR法对轻型β-地中海贫血个体的β-珠蛋白基因进行扩增,扩增产物经纯化后测序,确定其基因突变。结果在25例深圳地区轻型β-地中海贫血个体的β-珠蛋白基因所分析的片段中仅发现三种基因突变,它们分别是外显子1上的CD 41/42(-TCTT)突变、启动子中-28(A→G)突变及内含子1上IV S-I-11(A→C)突变。结论在深圳地区轻型β-地中海贫血个体中仅发现两种流行的β-珠蛋白基因突变,同时发现一种新的β-珠蛋白基因突变。

Objective To investigate the molecular defects of the β-globin gene in β-thalassemia carrier in Shenzhen population. Methods The target fragment of the β-globin gene in β-thalassemia carrier was first amplified using PCR technique, the molecular defects of the β-globin gene were determined by the automatic DNA sequencing. Results Three mutations of β-globin gene were found in β-thalassemia carrier in Shenzhen population. They are the CD41/42（-TCTT） in exon 1 -28（A →G） in promoter,and the IVS-I-11（A→C） in intron 1 respectively, Conclusion There are only two prevalent β-globin gene mutations in β-thalassemia carrier in Shenzhen population,there is a novel β-globin gene mutation.