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[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.
