β-地中海贫血与先天性软骨发育不全诊断性基因芯片的构建

DNA chip construction for β-thalassemia and achondroplasia

目的建立一种能同时快速、准确地检测β-地中海贫血与先天性软骨发育不全常见基因突变的技术。方法将针对2种疾病常见突变的特异性氨基修饰寡核苷酸探针点样于醛基修饰的玻片上,制成基因芯片,对β-地中海贫血、先天性软骨发育不全的病例和正常样本进行基因诊断。结果该基因芯片成功检测到相应的突变位点。结论该芯片制作成本低,重复性好,特异性高,能满足临床标本检测的要求,具有良好的临床应用前景。

Objective To build a gene chip that is used to simultaneously detect the constant gene mutations of β-thalassemia and achondroplasia quickly and exactly. Methods Specific aminated oligonucleotide probes based on the constant gene mutations were fixed on the aldehyde modified glass. The gene chip was made. The blood sample from 3 children with β-thalassemia and from 3 children with achondroplasia and 6 normal subjects was used to diagnose β-thalassemia and achondroplasia by the gene chip, Results The gene chip successfully detected the certain mutations, Conclusion The low-cost chip is of well-repeated and high speci- ficity in checking clinical samples.