β-地中海贫血产前基因诊断的临床应用

Clinic application of β-thalassemia prenatal genic diagnosis.

目的建立β-地中海贫血产前基因诊断方法并应用于临床诊断。方法对高风险孕妇于孕中期抽取羊水10m l,应用双重PCR结合反向斑点杂交技术(PCR-RDB),进行产前基因诊断。结果85例受检病例中,检出β-地贫基因突变46例,其中杂合子37例,双重杂合子5例,纯合子4例。结论PCR-RDB法是β-地贫产前诊断的有效方法,灵敏、准确、重复性好,值得在临床上应用推广。

Objective： To establish a prenatal diagnosis methods： for β -thalassemia on clinic application. Methods： pregnant women with high risk were analyzed by amniocentesis applying PCR - RDB for β - thalassemia. Results ： 46 cases of β - thalassemia were detected out of 85 individuals, 37 Heterozygous, 5 double heterozygous, 4 Homozygous separately. Conclusion ： PCR - RDB is a useful method in β -thalassemia pernatl genic analyzing based on it＇s sensitivity , accuracy, and repeatability.