应用PCR结合反向斑点杂交技术检测β-地中海贫血

目的探讨一种简便、高效可同时检测β-地中海贫血多基因位点突变的基因诊断技术。方法采用多聚酶链反应(PCR)结合反向斑点杂交(RDB)技术。结果486例疑诊患者共检测出175例为β-地中海贫血,检出9种基因突变类型22种组合形式,包括纯合子、杂合子以及双重杂合子。结论β-地中海贫血基因突变类型多样,基因组合形式复杂,多聚酶链反应结合反向斑点杂交技术(PCR/RDB)简便、高效、准确可靠,适于β-地中海贫血的基因诊断和实验研究,可作为常规方法推广用于临床标本的检测和产前诊断。

Detection of β-thalassemia by PCR connected with reverse dot blot

Objective To explore a convenient, high-performance technology of gene diagnosis for multiple gene mutation of β-thalassemia. Methods Polymerase chain reaction(PCR) connected with reverse dot blot(RDB) were performed. Results 175 cases were final diagnosed from 486 cases suspective of β-thalassemia, there were 9 types of gene mutation with 22 gene combinations, including homozygote, heterozygote and double heterozygote. Conclusion β-thalassemia has manifold type of gene mutation and complicated gene combinations, the PCR/RDB is a convenient, high-performance and reliable method for detection of β-thalassemia in gene diagnosis and laboratory study, and is useful in routine laboratory for detection of carrier and prenatal diagnosis.