[Rapid prenatal diagnosis of 60 cases with beta-thalassemia by reverse dot blot analysis].

OBJECTIVE: To evaluate the rapid prenatal diagnosis method for beta-thalassemia by reverse dot blot (RDB) analysis. METHODS: Using RDB analysis which can detect 18 types of beta-thalassemia mutation, 60 fetuses (with 1 twin) suspected of beta-thalassemia from 59 couples in Southern China were investigated. RESULTS: 15 fetus had normal genotype, 34 were carriers of heterozygous with one of parental affected gene; 10 had both parental affected genes-heterozygous or homozygous; and 1 was not able to identified. Three rare types of beta-thalassemia mutations (CD43, CD14-15, CD27-28) were detected. CONCLUSIONS: The RDB assay is able to complete the screening of beta-thalassemia mutation by DNA hybridization in only one single working day. It is simple, accurate and convenient to operate without radio-isotopes. It can be used as a routine technique in clinical laboratory for the detection of carriers and prenatal diagnosis of beta-thalassemia.